Biomarker Gene Alteration type Alteration Targeting Drug status Drug family Drug Association Evidence level Assay type Source Curator Curation date Primary Tumor type Metastatic Tumor Type TCGI included Comments Drug full name Primary Tumor type full name EZH2 (A692V,Y646C,Y646F,Y646H,Y646N,Y646S,A682G) EZH2 MUT EZH2:A692V,Y646C,Y646F,Y646H,Y646N,Y646S,A682G Approved EZH2 inhibitor Tazemetostat Responsive FDA guidelines FDA:https://www.fda.gov/drugs/fda-granted-accelerated-approval-tazemetostat-follicular-lymphoma;PMID:33035457 SDemajo;RShadrina 29.04.2022 FL FDA granted accelerated approval to tazemetostat for adult patients with relapsed or refractory (R/R) follicular lymphoma (FL) whose tumors are positive for an EZH2 mutation as detected by an FDA-approved test and who have received at least 2 prior systemic therapies, and for adult patients with R/R FL who have no satisfactory alternative treatment options. Tazemetostat (EZH2 inhibitor) Follicular lymphoma ERBB2 amplification ERBB2 CNA ERBB2:amp Approved ERBB2 inhibitor;Chemotherapy Neratinib;Capecitabine Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-neratinib-metastatic-her2-positive-breast-cancer;PMID:30860945 SDemajo;RShadrina 13.05.2022 BRCA Drug combination Neratinib (ERBB2 inhibitor) + Capecitabine (Chemotherapy) Breast adenocarcinoma ERBB2 amplification ERBB2 CNA ERBB2:amp Approved ERBB2 inhibitor;ERBB2 inhibitor;Chemotherapy Pertuzumab;Trastuzumab;Docetaxel Responsive FDA guidelines PMID:23801166 SDemajo;RShadrina 13.05.2022 BRCA Drug combination Pertuzumab (ERBB2 inhibitor)+ Trastuzumab (ERBB2 inhibitor) + Docetaxel (Chemotherapy) Breast adenocarcinoma ERBB2 overexpression ERBB2 EXPR ERBB2:over Approved ERBB2 inhibitor;ERBB2 inhibitor;Chemotherapy Pertuzumab;Trastuzumab;Docetaxel Responsive FDA guidelines PMID:23801166 SDemajo;RShadrina 30.06.2022 BRCA Drug combination Pertuzumab (ERBB2 inhibitor) + Trastuzumab (ERBB2 inhibitor) + Docetaxel (Chemotherapy) Breast adenocarcinoma ERBB2 amplification ERBB2 CNA ERBB2:amp Approved ERBB2 inhibitor;Hormone therapy Lapatinib;Letrozole Responsive FDA guidelines FDA;PMID:19786658 SDemajo;RShadrina 13.05.2022 BRCA Drug combination Lapatinib (ERBB2 inhibitor) + Letrozole (Hormone therapy) Breast adenocarcinoma ERBB2 expression - ERBB2 EXPR ERBB2:norm Approved Estrogen receptor antagonist;CDK4/6 inhibitor Fulvestrant;Palbociclib Responsive FDA guidelines PMID:27407089 SDemajo;RShadrina 21.04.2022 BRCA 1 Drug combination indicated for Hormone Receptor (HR)-Positive breast cancer Fulvestrant (Estrogen receptor antagonist) + Palbociclib (CDK4/6 inhibitor) Breast adenocarcinoma ERBB2 amplification ERBB2 CNA ERBB2:amp Approved ERBB2 inhibitor Margetuximab Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-margetuximab-metastatic-her2-positive-breast-cancer SDemajo;RShadrina 21.04.2023 BRCA 1 In combination with chemotherapy Margetuximab (ERBB2 inhibitor) Breast adenocarcinoma ERBB2 overexpression ERBB2 EXPR ERBB2:over Approved ERBB2 inhibitor Margetuximab Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-margetuximab-metastatic-her2-positive-breast-cancer SDemajo;RShadrina 30.06.2022 BRCA 1 In combination with chemotherapy Margetuximab (ERBB2 inhibitor) Breast adenocarcinoma ERBB2 amplification ERBB2 CNA ERBB2:amp Approved ERBB2 inhibitor;ERBB2 inhibitor;Chemotherapy Tucatinib;Trastuzumab;Capecitabine Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-tucatinib-patients-her2-positive-metastatic-breast-cancer;PMID:31825569 SDemajo;RShadrina 21.04.2024 BRCA 1 Drug combination. Indicated for adult patients with advanced unresectable or metastatic HER2-positive breast cancer. Tucatinib (ERBB2 inhibitor) + Trastuzumab (ERBB2 inhibitor) + Capecitabine (chemotherapy) Breast adenocarcinoma BRCA1 oncogenic mutation BRCA1 MUT BRCA1:. Approved PARP inhibitor Talazoparib Responsive NCCN guidelines NCCN guideline Breast cancer 2022;PMID: 30110579 SDemajo;RShadrina 22.04.2022 BRCA Patients with Germline BRCA1 Mutation Talazoparib (PARP inhibitor) Breast adenocarcinoma BRCA2 oncogenic mutation BRCA2 MUT BRCA2:. Approved PARP inhibitor Talazoparib Responsive NCCN guidelines NCCN guideline Breast cancer 2022;PMID: 30110579 SDemajo;RShadrina 22.04.2022 BRCA Patients with Germline BRCA2 Mutation Talazoparib (PARP inhibitor) Breast adenocarcinoma PIK3CA oncogenic mutation PIK3CA MUT PIK3CA:. Approved PI3K inhibitor; Estrogen receptor antagonist Alpelisib;Fulvestrant Responsive NCCN guidelines NCCN guideline Breast cancer 2022 SDemajo;RShadrina 22.04.2022 BRCA Indicated for For HR-positive/HER2-negative breast cancer; Preferred second- or subsequent-line therapy; Specific mutations FDA-approved C420R,E542K,E545A,E545D,E545G,E545K,H1047L,H1047R,H1047Y,Q546E,Q546R Alpelisib (PI3K inhibitor) + Fulvestrant (Estrogen receptor antagonist) Breast adenocarcinoma NTRK1 fusion NTRK1 FUS NTRK__. Approved TRK Kinase Inhibitor Larotrectinib Responsive NCCN guidelines NCCN guideline Breast cancer 2022 SDemajo;RShadrina 22.04.2022 BRCA Larotrectinib and entrectinib are indicated for the treatment of solid tumors that have an NTRK gene fusion without a known acquired resistance mutation and have no satisfactory alternative treatments or that have progressed following treatment. Larotrectinib (TRK Kinase Inhibitor) Breast adenocarcinoma NTRK1 fusion NTRK1 FUS NTRK__. Approved Pan-TK inhibitor Entrectinib Responsive NCCN guidelines NCCN guideline Breast cancer 2022 SDemajo;RShadrina 22.04.2022 BRCA Larotrectinib and entrectinib are indicated for the treatment of solid tumors that have an NTRK gene fusion without a known acquired resistance mutation and have no satisfactory alternative treatments or that have progressed following treatment. Entrectinib (Pan-TK inhibitor) Breast adenocarcinoma CD274 (PD-L1) + CD274 EXPR CD274:norm Approved PD-1 blocking antibody Pembrolizumab Responsive NCCN guidelines NCCN guideline Breast cancer 2022 SDemajo;RShadrina 22.04.2022 BRCA CD274 is commonly known as PD-L1. FDA granted regular approval to pembrolizumab in combination with chemotherapy for patients with locally recurrent unresectable or metastatic TNBC (Triple Negative Breast Cancer) whose tumors express PD-L1 (Combined Positive Score [CPS] ≥10) as determined by an FDA approved test. Pembrolizumab (PD-1-blocking antibody) Breast adenocarcinoma FLT3-ITD FLT3 MUT FLT3::consequence::inframe_variant:572-630 Approved Pan-TK inhibitor Midostaurin Responsive FDA guidelines FDA:https://www.fda.gov/news-events/press-announcements/fda-approves-new-combination-treatment-acute-myeloid-leukemia;PMID:28644114 SDemajo;RShadrina 27.04.2022 AML Drug and chemoterphy (high dose quemotherapy) should be used in combination Midostaurin (Pan-TK inhibitor) Acute Myeloid Leukemia FLT3 (D835,I836) FLT3 MUT FLT3:D835.,I836. Approved Kinase inhibitor Gilteritinib Responsive FDA guidelines FDA: https://www.fda.gov/drugs/fda-approves-gilteritinib-relapsed-or-refractory-acute-myeloid-leukemia-aml-flt3-mutatation SDemajo;RShadrina 27.04.2022 AML Bibliography: https://www.fda.gov/drugs/fda-approves-gilteritinib-relapsed-or-refractory-acute-myeloid-leukemia-aml-flt3-mutatation AND PMID: 31665578 Gilteritinib (Kinase inhibitor ) Acute Myeloid Leukemia FLT3-ITD FLT3 MUT FLT3::consequence::inframe_variant:572-630 Approved Kinase inhibitor Gilteritinib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/fda-approves-gilteritinib-relapsed-or-refractory-acute-myeloid-leukemia-aml-flt3-mutatation;PMID:31665578 SDemajo;RShadrina 27.04.2022 AML Gilteritinib (Kinase inhibitor ) Acute Myeloid Leukemia FLT3 (D835,I836) FLT3 MUT FLT3:D835.,I836. Approved Pan-TK inhibitor Midostaurin Responsive FDA guidelines FDA:https://www.fda.gov/news-events/press-announcements/fda-approves-new-combination-treatment-acute-myeloid-leukemia; PMID:28644114 SDemajo;RShadrina 27.04.2022 AML Drug and chemoterphy (high dose quemotherapy) should be used in combination Midostaurin (Pan-TK inhibitor) Acute Myeloid Leukemia ABL1 (T315I,V299L,G250E,F317L) ABL1 MUT ABL1:T315I,V299L,G250E,F317L Approved BCR-ABL inhibitor 3rd gen Bosutinib Resistant NCCN guidelines NCCN SDemajo;RShadrina 19.04.2022 ALL;CML 1 Bosutinib (BCR-ABL inhibitor 3rd gen) Acute lymphoblastic leukemia; Chronic myeloid leukemia ABL1 (T315I) ABL1 MUT ABL1:T315I Approved Kinase inhibitor Asciminib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-asciminib-philadelphia-chromosome-positive-chronic-myeloid-leukemia SDemajo;RShadrina 26.04.2022 CML 1 Bibliography: https://ash.confex.com/ash/2020/webprogram/Paper143816.html ||| FDA indication: Philadelphia chromosome-positive chronic myeloid leukemia (Ph+ CML) in chronic phase (CP), previously treated with two or more tyrosine kinase inhibitors (TKIs) Asciminib (Kinase inhibitor) Chronic myeloid leukemia BCR-ABL1 ABL1 FUS ABL1__BCR Approved Kinase inhibitor Asciminib Responsive FDA guidelines FDA SDemajo;RShadrina 26.04.2022 CML 1 Bibliography: PMID: 34407542 ||| FDA indication: Philadelphia chromosome-positive chronic myeloid leukemia (Ph+ CML) in chronic phase (CP), previously treated with two or more tyrosine kinase inhibitors (TKIs). Asciminib (Kinase inhibitor) Chronic myeloid leukemia ABL1 (T315I) ABL1 MUT ABL1:T315I Approved BCR-ABL inhibitor 2nd gen Nilotinib Resistant NCCN guidelines NCCN Guideline ALL 2022 SDemajo;RShadrina 19.04.2022 ALL 1 Nilotinib (BCR-ABL inhibitor 2nd gen) Acute lymphoblastic leukemia ABL1 (E255V,Y253H,F359V) ABL1 MUT ABL1:E255V,Y253H,F359V Approved BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor Ponatinib Responsive NCCN guidelines NCCN Guidelines Chronic Myeloid Leukemia 2022; PMID:34407543 SDemajo;RShadrina 7.04.2022 CML 1 Ponatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor) Chronic myeloid leukemia MYD88 (L265P) MYD88 MUT MYD88:L265P Approved Kinase inhibitor Zanubrutinib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-zanubrutinib-waldenstroms-macroglobulinemia SDemajo;RShadrina 29.04.2022 WM Zanubrutinib may be also used in pateints with MYD88 wild type: PMID: 33284944 Zanubrutinib (Kinase inhibitor) Waldenström macroglobulinemia RET fusion RET FUS RET__. Approved Tyrosine kinase inhibitor Pralsetinib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-pralsetinib-ret-altered-thyroid-cancers;ASCO 2020 (abstr 109) SDemajo;RShadrina 29.04.2022 THM Pralsetinib (Tyrosine kinase inhibitor) Medullary thyroid cancer RET fusion RET FUS RET__. Approved RET kinase inhibitor Selpercatinib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-selpercatinib-lung-and-thyroid-cancers-ret-gene-mutations-or-fusions;ASCO 2020 (abstr 3594) SDemajo;RShadrina 29.04.2022 THM Selpercatinib (RET kinase inhibitor) Medullary thyroid cancer RET fusion RET FUS RET__. Kinase inhibitor Cabozantinib Responsive Early trials PMID:27825636 SDemajo;RShadrina 29.04.2022 NSCLC Cabozantinib (Kinase inhibitor ) Non-Small Cell Lung Cancer BRAF (V600E) BRAF MUT BRAF:V600E Approved MEK inhibitor;BRAF inhibitor Trametinib;Dabrafenib Responsive NCCN guidelines NCCN Non-Small Cell Lung Cancer guidlines 2022; FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-dabrafenib-combination-trametinib-unresectable-or-metastatic-solid SDemajo;RShadrina 8.04.2022 NSCLC 1 Drug combination dabrafenib plus trametinib is a preferred treatment option for patients with BRAF p.V600E mutations (NCCN). Trametinib (MEK inhibitor) + Dabrafenib (BRAF inhibitor) Non-Small Cell Lung Cancer EGFR (S786I,G719., L861Q) EGFR MUT EGFR:S786I,G719.,L861Q Approved EGFR inhibitor 3rd gen Osimertinib Responsive NCCN guidelines NCCN Non-Small Cell Lung Cancer guidlines 2022 SDemajo;RShadrina 8.04.2023 NSCLC Osimertinib (EGFR inhibitor 3d gen) Non-Small Cell Lung Cancer NTRK1 fusion NTRK1 FUS NTRK__. Approved Pan-TK inhibitor Entrectinib Responsive NCCN guidelines NCCN guidelines Gastric Cancer 2022 SDemajo;RShadrina 25.04.2022 ST Second-Line or Subsequent Therapy Useful in Certain Circumstances Entrectinib (Pan-TK inhibitor) Stomach NTRK1 fusion NTRK1 FUS NTRK__. Approved TRK Kinase Inhibitor Larotrectinib Responsive NCCN guidelines NCCN guidelines Gastric Cancer 2022 SDemajo;RShadrina 25.04.2022 ST Second-Line or Subsequent Therapy Useful in Certain Circumstances Larotrectinib (TRK Kinase Inhibitor) Stomach BRCA1 oncogenic mutation BRCA1 MUT BRCA1:. Approved PARP inhibitor Niraparib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-niraparib-first-line-maintenance-advanced-ovarian-cancer;PMID:30948273 SDemajo;RShadrina 21.04.2022 OV 1 Niraparib (PARP inhibitor) Ovary BRCA2 oncogenic mutation BRCA2 MUT BRCA2:. Approved PARP inhibitor Niraparib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-niraparib-first-line-maintenance-advanced-ovarian-cancer;PMID:30948273 SDemajo;RShadrina 21.04.2022 OV 1 Niraparib (PARP inhibitor) Ovary BRCA1 oncogenic mutation BRCA1 MUT BRCA1:. Approved PARP inhibitor;VEGF mAb inhibitor Olaparib;Bevacizumab Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-plus-bevacizumab-maintenance-treatment-ovarian-fallopian-tube-or-primary SDemajo;RShadrina 25.04.2022 OV 1 First-line maintenance treatment of adult patients with advanced epithelial ovarian, fallopian tube, or primary peritoneal cancer who are in complete or partial response to first-line platinum-based chemotherapy and whose cancer is associated with homologous recombination deficiency positive status defined by either a deleterious or suspected deleterious BRCA mutation, and/or genomic instability. Olaparib (PARP inhibitor) + Bevacizumab (VEGF mAb inhibitor) Ovary BRCA2 oncogenic mutation BRCA2 MUT BRCA2:. Approved PARP inhibitor;VEGF mAb inhibitor Olaparib;Bevacizumab Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-plus-bevacizumab-maintenance-treatment-ovarian-fallopian-tube-or-primary SDemajo;RShadrina 25.04.2022 OV 1 First-line maintenance treatment of adult patients with advanced epithelial ovarian, fallopian tube, or primary peritoneal cancer who are in complete or partial response to first-line platinum-based chemotherapy and whose cancer is associated with homologous recombination deficiency positive status defined by either a deleterious or suspected deleterious BRCA mutation, and/or genomic instability. Olaparib (PARP inhibitor) + Bevacizumab (VEGF mAb inhibitor) Ovary ALK oncogenic mutation ALK MUT ALK:. Approved ALK inhibitor Lorlatinib Responsive FDA guidelines FDA: https://www.accessdata.fda.gov/drugsatfda_docs/label/2021/210868s004lbl.pdf SDemajo;RShadrina 13.04.2022 LUAD 1 Indicated for the treatment of adult patients with metastatic non-small cell lung cancer (NSCLC) whose tumors are anaplastic lymphoma kinase (ALK)-positive as detected by an FDA-approved test. Lorlatinib (ALK inhibitor) Lung adenocarcinoma EGFR (L858R,S768I,L861Q,G719.) EGFR MUT EGFR:L858R,S768I,L861Q,G719. Approved EGFR inhibitor Dacomitinib Responsive FDA guidelines NCCN Non-Small Cell Lung Cancer guidlines 2022;FDA:https://www.fda.gov/drugs/drug-approvals-and-databases/fda-approves-dacomitinib-metastatic-non-small-cell-lung-cancer-0 SDemajo;RShadrina 13.04.2020 NSCLC 1 Dacomitinib (EGFR inhibitor) Non-Small Cell Lung Cancer VHL oncogenic mutation VHL MUT VHL:. Approved Hypoxia-inducible factor inhibitor Belzutifan Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-belzutifan-cancers-associated-von-hippel-lindau-disease SDemajo;RShadrina 25.04.2022 R R Belzutifan (hypoxia-inducible factor inhibitor) Renal EGFR (T790M) EGFR MUT EGFR:T790M Approved EGFR inhibitor 1st gen Gefitinib Resistant FDA guidelines PMID:26980062 SDemajo;RShadrina 14.04.2020 NSCLC Gefitinib (EGFR inhibitor 1st gen) Non-Small Cell Lung Cancer FGFR2 fusion FGFR2 FUS FGFR2__. Approved FGFR inhibitor Erdafitinib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-erdafitinib-metastatic-urothelial-carcinoma:PMID:31340094 SDemajo;RShadrina 2.05.2022 BLCA BLCA For patients with locally advanced or metastatic urothelial carcinoma, with susceptible FGFR3 or FGFR2 genetic alterations, that has progressed during or following platinum-containing chemotherapy Erdafitinib (FGFR inhibitor) Bladder ATM oncogenic mutation ATM MUT ATM:. Approved PARP inhibitor Olaparib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890 SDemajo;RShadrina 2.05.2022 PRAD PRAD For Metastatic Castration-Resistant Prostate Cancer Olaparib (PARP inhibitor) Prostate adenocarcinoma BARD1 oncogenic mutation BARD1 MUT BARD1:. Approved PARP inhibitor Olaparib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890 SDemajo;RShadrina 2.05.2022 PRAD PRAD For Metastatic Castration-Resistant Prostate Cancer Olaparib (PARP inhibitor) Prostate adenocarcinoma BRIP1 oncogenic mutation BRIP1 MUT BRIP1:. Approved PARP inhibitor Olaparib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890 SDemajo;RShadrina 2.05.2022 PRAD PRAD For Metastatic Castration-Resistant Prostate Cancer Olaparib (PARP inhibitor) Prostate adenocarcinoma CDK12 oncogenic mutation CDK12 MUT CDK12:. Approved PARP inhibitor Olaparib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890 SDemajo;RShadrina 2.05.2022 PRAD PRAD For Metastatic Castration-Resistant Prostate Cancer Olaparib (PARP inhibitor) Prostate adenocarcinoma CHEK1 oncogenic mutation CHEK1 MUT CHEK1:. Approved PARP inhibitor Olaparib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890 SDemajo;RShadrina 2.05.2022 PRAD PRAD For Metastatic Castration-Resistant Prostate Cancer Olaparib (PARP inhibitor) Prostate adenocarcinoma FANCL oncogenic mutation FANCL MUT FANCL:. Approved PARP inhibitor Olaparib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890 SDemajo;RShadrina 2.05.2022 PRAD PRAD For Metastatic Castration-Resistant Prostate Cancer Olaparib (PARP inhibitor) Prostate adenocarcinoma BRCA1 oncogenic mutation BRCA1 MUT BRCA1:. Approved PARP inhibitor Rucaparib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-rucaparib-brca-mutated-metastatic-castration-resistant-prostate;PMID: 32795228 SDemajo;RShadrina 2.05.2022 PRAD PRAD 1 For BRCA-mutated metastatic castration-resistant prostate cancer Rucaparib (PARP inhibitor) Prostate adenocarcinoma BRCA2 oncogenic mutation BRCA2 MUT BRCA2:. Approved PARP inhibitor Rucaparib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-rucaparib-brca-mutated-metastatic-castration-resistant-prostate;PMID: 32795228 SDemajo;RShadrina 2.05.2022 PRAD PRAD 1 For BRCA-mutated metastatic castration-resistant prostate cancer Rucaparib (PARP inhibitor) Prostate adenocarcinoma FGFR3 fusion FGFR3 FUS FGFR3__. Approved FGFR inhibitor Erdafitinib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-erdafitinib-metastatic-urothelial-carcinoma:PMID:31340094 SDemajo;RShadrina 2.05.2022 BLCA BLCA For patients with locally advanced or metastatic urothelial carcinoma, with susceptible FGFR3 or FGFR2 genetic alterations, that has progressed during or following platinum-containing chemotherapy Erdafitinib (FGFR inhibitor) Bladder FGFR3 (G370C,R248C,S249C,Y373C) FGFR3 MUT FGFR3:G370C,R248C,S249C,Y373C Approved FGFR inhibitor Erdafitinib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-erdafitinib-metastatic-urothelial-carcinoma:PMID:31340094 SDemajo;RShadrina 2.05.2022 BLCA BLCA Erdafitinib (FGFR inhibitor) Bladder BRAF (V600E) BRAF MUT BRAF:V600E Approved BRAF inhibitor;EGFR mAb inhibitor Encorafenib;Cetuximab Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-encorafenib-combination-cetuximab-metastatic-colorectal-cancer-braf-v600e-mutation;PMID:31566309 SDemajo;RShadrina 4.05.2022 COREAD Drug combination Encorafenib (BRAF inhibitor) + Cetuximab (EGFR mAb inhibitor) Colorectal adenocarcinoma ERBB2 amplification ERBB2 CNA ERBB2:amp Approved PD-1 blocking antibody;ERBB2 mAb inhibitor Pembrolizumab;Trastuzumab Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-pembrolizumab-her2-positive-gastric-cancer;PMID:34912120 SDemajo;RShadrina 4.05.2022 ST;GEJA Treatment in combination with fluoropyrimidine- and platinum-containing chemotherapy for the first-line treatment of patients with locally advanced unresectable or metastatic HER2 positive gastric or gastroesophageal junction (GEJ) adenocarcinoma Pembrolizumab (PD-1 blocking antibody) + Trastuzumab (ERBB2 mAb inhibitor) Stomach;Gastroesophageal junction adenocarcinoma ERBB2 overexpression ERBB2 EXPR ERBB2:over Approved PD-1 blocking antibody;ERBB2 mAb inhibitor Pembrolizumab;Trastuzumab Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-pembrolizumab-her2-positive-gastric-cancer;PMID:34912120 SDemajo;RShadrina 4.05.2022 ST;GEJA Treatment in combination with fluoropyrimidine- and platinum-containing chemotherapy for the first-line treatment of patients with locally advanced unresectable or metastatic HER2 positive gastric or gastroesophageal junction (GEJ) adenocarcinoma Pembrolizumab (PD-1 blocking antibody) + Trastuzumab (ERBB2 mAb inhibitor) Stomach;Gastroesophageal junction adenocarcinoma KRAS wildtype KRAS MUT KRAS::wildtype:. Approved EGFR mAb inhibitor Panitumumab Responsive FDA guidelines PMID: 31268481 SDemajo;RShadrina 04.05.2022 COREAD 1 Drug alone or in combination with chemotherapy (fluorouracil-leucovorin) Panitumumab (EGFR mAb inhibitor) Colorectal cancer KRAS wildtype KRAS MUT KRAS::wildtype:. Approved EGFR mAb inhibitor Cetuximab Responsive FDA guidelines PMID: 19339720 SDemajo;RShadrina 04.05.2022 COREAD 1 Drug alone or in combination with chemotherapy Cetuximab (EGFR mAb inhibitor) Colorectal adenocarcinoma KIT (Y823D,N822,C809G,D820,A829P,D816,T670I) KIT MUT KIT:Y823D,N822.,C809G,D820.,A829P,D816,T670I Approved Kinase inhibitor Ripretinib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-ripretinib-advanced-gastrointestinal-stromal-tumor;PMID:32511981 SDemajo;RShadrina 05.05.2022 GIST Approved for adult patients with advanced gastrointestinal stromal tumor (GIST) who have received prior treatment with 3 or more kinase inhibitors, including imatinib. Ripretinib (Kinase inhibitor) Gastrointestinal stromal EGFR exon 20 insertions EGFR MUT EGFR::consequence::inframe_insertion:762-823 Approved EGFR inhibitor Mobocertinib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-mobocertinib-metastatic-non-small-cell-lung-cancer-egfr-exon-20 SDemajo;RShadrina 18.05.2022 NSCLC TRUE Approved for adult patients with locally advanced or metastatic non-small cell lung cancer (NSCLC) with epidermal growth factor receptor (EGFR) exon 20 insertion mutations, as detected by an FDA-approved test, whose disease has progressed on or after platinum-based chemotherapy. Mobocertinib (EGFR inhibitor) Non-Small Cell Lung Cancer EGFR exon 20 insertions EGFR MUT EGFR::consequence::inframe_insertion:762-823 Approved EGFR mAb inhibitor Amivantamab Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-amivantamab-vmjw-metastatic-non-small-cell-lung-cancer SDemajo;RShadrina 18.05.2022 NSCLC TRUE Approved for adult patients with locally advanced or metastatic non-small cell lung cancer (NSCLC) with epidermal growth factor receptor (EGFR) exon 20 insertion mutations, as detected by an FDA-approved test, whose disease has progressed on or after platinum-based chemotherapy. Amivantamab (EGFR mAb inhibitor) Non-Small Cell Lung Cancer FGFR2 fusion FGFR2 FUS FGFR2__. Approved FGFR kinase inhibitor Infigratinib Responsive FDA guidelines FDA https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-infigratinib-metastatic-cholangiocarcinoma SDemajo;RShadrina 18.05.2022 CH Approved for adults with previously treated, unresectable locally advanced or metastatic cholangiocarcinoma with a fibroblast growth factor receptor 2 (FGFR2) fusion or other rearrangement as detected by an FDA-approved test Infigratinib (FGFR kinase inhibitor) Cholangiocarcinoma FGFR2 fusion FGFR2 FUS FGFR2__. Approved FGFR kinase inhibitor Pemigatinib Responsive FDA guidelines FDA;PMID:32203698 SDemajo;RShadrina 18.05.2022 CH https://www.accessdata.fda.gov/drugsatfda_docs/label/2020/213736s000lbl.pdf Pemigatinib (FGFR kinase inhibitor) Cholangiocarcinoma IDH1 oncogenic mutation IDH1 MUT IDH1:R132 Approved IDH1 inhibitor Ivosidenib Responsive FDA guidelines FDA;PMID:34554208;PMID:32416072 SDemajo;RShadrina 18.05.2022 CH Ivosidenib (IDH1 inhibitor) Cholangiocarcinoma IDH1 (R132C,R132G,R132H,R132L,R132S) IDH1 MUT IDH1:R132C,R132G,R132H,R132L,R132S Approved IDH1 inhibitor Ivosidenib Responsive FDA guidelines FDA https://www.accessdata.fda.gov/drugsatfda_docs/label/2021/211192_s008lbl.pdf SDemajo;RShadrina 23.05.2022 AML Ivosidenib (IDH1 inhibitor) Acute Myeloid Leukemia KRAS (G12C) KRAS MUT KRAS:G12C Approved RAS GTPase family inhibitor Sotorasib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-sotorasib-kras-g12c-mutated-nsclc SDemajo;RShadrina 18.05.2022 NSCLC Sotorasib (RAS GTPase family inhibitor) Non-Small Cell Lung Cancer PDGFRA exon 18 mutations PDGFRA MUT PDGFRA::consequence::inframe_deletion:814-852,::inframe_insertion:814-852,::missense_variant:814-852 Approved Kinase inhibitor Avapritinib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-avapritinib-gastrointestinal-stromal-tumor-rare-mutation SDemajo;RShadrina 23.05.2022 GIST Avapritinib (Kinase inhibitor) Gastrointestinal stromal PDGFRA (D842V) PDGFRA MUT PDGFRA:D842V Approved Kinase inhibitor Avapritinib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-avapritinib-gastrointestinal-stromal-tumor-rare-mutation;PMID:32615108 SDemajo;RShadrina 23.05.2022 GIST Avapritinib (Kinase inhibitor) Gastrointestinal stromal MET exon 14 skipping mutations MET MUT MET::consequence::skipping_mutation:963-1010 Approved MET inhibitor Tepotinib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-tepotinib-metastatic-non-small-cell-lung-cancer;PMID:31279006;PMID:34036238 SDemajo;RShadrina 23.05.2022 NSCLC Tepotinib (MET inhibitor) Non-Small Cell Lung Cancer MET exon 14 skipping mutations MET MUT MET::consequence::skipping_mutation:963-1010 Approved MET inhibitor Capmatinib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-capmatinib-metastatic-non-small-cell-lung-cancer;ASCO 2019 (abstr 9004);ASCO 2019 (abstr 9020) SDemajo;RShadrina 23.05.2022 NSCLC Capmatinib (MET inhibitor) Non-Small Cell Lung Cancer ROS1 fusion ROS1 FUS ROS1__. Approved Pan-TK inhibitor Entrectinib Responsive FDA guidelines FDA;PMID:28183697;ESMO 2019 (abstr 4178) SDemajo;RShadrina 23.05.2022 NSCLC TRUE Entrectinib (Pan-TK inhibitor) Non-small cell lung CXCR4 CXCR4 MUT CXCR4:. Approved Kinase inhibitor Ibrutinib Resistant Early trials PMID:31267520 SDemajo;RShadrina 24.05.2022 WM Ibrutinib (Kinase inhibitor ) Waldenström macroglobulinemia ABL1 (T315I) ABL1 MUT ABL1:T315I Approved BCR-ABL inhibitor 3rd gen Bosutinib Resistant NCCN guidelines NCCN Guideline ALL 2022 SDemajo;RShadrina 17.06.2022 ALL TRUE Bosutinib (BCR-ABL inhibitor 3rd gen) Acute lymphoblastic leukemia NTRK1 fusion NTRK1 FUS NTRK__. Approved TRK Kinase Inhibitor Larotrectinib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/fda-approves-larotrectinib-solid-tumors-ntrk-gene-fusions SDemajo;RShadrina 29.06.2022 CANCER Larotrectinib and entrectinib are indicated for the treatment of solid tumors that have an NTRK gene fusion without a known acquired resistance mutation and have no satisfactory alternative treatments or that have progressed following treatment. Larotrectinib (TRK Kinase Inhibitor) Any cancer type NTRK1 fusion NTRK1 FUS NTRK__. Approved Pan-TK inhibitor Entrectinib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-entrectinib-ntrk-solid-tumors-and-ros-1-nsclc SDemajo;RShadrina 29.06.2022 CANCER Larotrectinib and entrectinib are indicated for the treatment of solid tumors that have an NTRK gene fusion without a known acquired resistance mutation and have no satisfactory alternative treatments or that have progressed following treatment. Entrectinib (Pan-TK inhibitor) Any cancer type ERBB2 overexpression ERBB2 EXPR ERBB2:over Approved ERBB2 inhibitor;Chemotherapy Neratinib;Capecitabine Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-neratinib-metastatic-her2-positive-breast-cancer;PMID:30860945 SDemajo;RShadrina 30.06.2022 BRCA Drug combination Neratinib (ERBB2 inhibitor) + Capecitabine (Chemotherapy) Breast adenocarcinoma ERBB2 overexpression ERBB2 EXPR ERBB2:over Approved ERBB2 inhibitor;Hormone therapy Lapatinib;Letrozole Responsive FDA guidelines FDA;PMID:19786658 SDemajo;RShadrina 30.06.2022 BRCA Drug combination Lapatinib (ERBB2 inhibitor) + Letrozole (Hormone therapy) Breast adenocarcinoma ERBB2 overexpression ERBB2 EXPR ERBB2:over Approved ERBB2 inhibitor;ERBB2 inhibitor;Chemotherapy Tucatinib;Trastuzumab;Capecitabine Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-tucatinib-patients-her2-positive-metastatic-breast-cancer;PMID:31825569 SDemajo;RShadrina 30.06.2022 BRCA 1 Drug combination. Indicated for adult patients with advanced unresectable or metastatic HER2-positive breast cancer. Tucatinib (ERBB2 inhibitor) + Trastuzumab (ERBB2 inhibitor) + Capecitabine (chemotherapy) Breast adenocarcinoma RET fusion RET FUS RET__. Approved Tyrosine kinase inhibitor Pralsetinib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-pralsetinib-lung-cancer-ret-gene-fusions SDemajo;RShadrina 30.06.2022 NSCLC Pralsetinib (Tyrosine kinase inhibitor) Non-small cell lung RET fusion RET FUS RET__. Approved RET kinase inhibitor Selpercatinib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-selpercatinib-lung-and-thyroid-cancers-ret-gene-mutations-or-fusions SDemajo;RShadrina 30.06.2022 NSCLC Selpercatinib (RET kinase inhibitor) Non-small cell lung PALB2 oncogenic mutation PALB2 MUT PALB2:. Approved PARP inhibitor Olaparib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890 SDemajo;RShadrina 04.07.2022 PRAD PRAD For Metastatic Castration-Resistant Prostate Cancer Olaparib (PARP inhibitor) Prostate adenocarcinoma RAD51B oncogenic mutation RAD51B MUT RAD51B:. Approved PARP inhibitor Olaparib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890 SDemajo;RShadrina 04.07.2022 PRAD PRAD For Metastatic Castration-Resistant Prostate Cancer Olaparib (PARP inhibitor) Prostate adenocarcinoma RAD51C oncogenic mutation RAD51C MUT RAD51C:. Approved PARP inhibitor Olaparib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890 SDemajo;RShadrina 04.07.2022 PRAD PRAD For Metastatic Castration-Resistant Prostate Cancer Olaparib (PARP inhibitor) Prostate adenocarcinoma RAD51D oncogenic mutation RAD51D MUT RAD51D:. Approved PARP inhibitor Olaparib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890 SDemajo;RShadrina 04.07.2022 PRAD PRAD For Metastatic Castration-Resistant Prostate Cancer Olaparib (PARP inhibitor) Prostate adenocarcinoma RAD54L oncogenic mutation RAD54L MUT RAD54L:. Approved PARP inhibitor Olaparib Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890 SDemajo;RShadrina 04.07.2022 PRAD PRAD For Metastatic Castration-Resistant Prostate Cancer Olaparib (PARP inhibitor) Prostate adenocarcinoma PIK3CA (C420R,E542K,E545A,E545D,E545G,E545K,H1047L,H1047R,H1047Y,Q546E,Q546R) PIK3CA MUT PIK3CA:C420R,E542K,E545A,E545D,E545G,E545K,H1047L,H1047R,H1047Y,Q546E,Q546R Approved PI3K inhibitor; Estrogen receptor antagonist Alpelisib;Fulvestrant Responsive NCCN guidelines FDA;PMID:31091374 SDemajo;RShadrina 22.04.2022 BRCA Indicated for For HR-positive/HER2-negative breast cancer; Preferred second- or subsequent-line therapy; Specific mutations FDA-approved C420R,E542K,E545A,E545D,E545G,E545K,H1047L,H1047R,H1047Y,Q546E,Q546R Alpelisib (PI3K inhibitor) + Fulvestrant (Estrogen receptor antagonist) Breast adenocarcinoma ERBB2 amplification ERBB2 CNA ERBB2:amp Antibody-drug conjugate: ERBB2 mAb inhibitor + topoisomerase I inhibitor Trastuzumab deruxtecan-nxki Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-fam-trastuzumab-deruxtecan-nxki-her2-positive-gastric-adenocarcinomas SDemajo;RShadrina 12.09.2022 ST;GEJA Indicated for adult patients with locally advanced or metastatic HER2-positive gastric or gastroesophageal (GEJ) adenocarcinoma who have received a prior trastuzumab-based regimen. Trastuzumab deruxtecan-nxki (Antibody-drug conjugate: ERBB2 mAb inhibitor + topoisomerase I inhibitor) Stomach;Gastroesophageal junction adenocarcinoma ERBB2 overexpression ERBB2 EXPR ERBB2:over Antibody-drug conjugate: ERBB2 mAb inhibitor + topoisomerase I inhibitor Trastuzumab deruxtecan-nxki Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-fam-trastuzumab-deruxtecan-nxki-her2-positive-gastric-adenocarcinomas SDemajo;RShadrina 12.09.2022 ST;GEJA Indicated for adult patients with locally advanced or metastatic HER2-positive gastric or gastroesophageal (GEJ) adenocarcinoma who have received a prior trastuzumab-based regimen. Trastuzumab deruxtecan-nxki (Antibody-drug conjugate: ERBB2 mAb inhibitor + topoisomerase I inhibitor) Stomach;Gastroesophageal junction adenocarcinoma ERBB2 oncogenic mutation ERBB2 MUT ERBB2:. Antibody-drug conjugate: ERBB2 mAb inhibitor + topoisomerase I inhibitor Trastuzumab deruxtecan-nxki Responsive FDA guidelines FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-fam-trastuzumab-deruxtecan-nxki-her2-mutant-non-small-cell-lung SDemajo;RShadrina 12.09.2022 NSCLC Indicated for adult patients with unresectable or metastatic non-small cell lung cancer (NSCLC) whose tumors have activating human epidermal growth factor receptor 2 HER2 (ERBB2) mutations, as detected by an FDA-approved test, and who have received a prior systemic therapy. Trastuzumab deruxtecan-nxki (Antibody-drug conjugate: ERBB2 mAb inhibitor + topoisomerase I inhibitor) Non-Small Cell Lung Cancer AKT1 (Q79K,E17K) AKT1 MUT AKT1:Q79K,E17K [BRAF inhibitor] [] Resistant Case report PMID:24265152 RDientsmann;DTamborero 03/16 CM TRUE BRAF inhibitors Cutaneous melanoma ABL1 (T315I) ABL1 MUT ABL1:T315I VEGFR inhibitor Axitinib Responsive Pre-clinical PMID:25686603 DTamborero 03/16 CANCER TRUE Axitinib (VEGFR inhibitor) Any cancer type ABL1-BCR fusion ABL1 FUS ABL1__BCR Approved BCR-ABL inhibitor 3rd gen Bosutinib Responsive FDA guidelines FDA CRubio-Perez;DTamborero;RDientsmann CML TRUE Bosutinib (BCR-ABL inhibitor 3rd gen) Chronic myeloid leukemia ABL1 (T315A,F317L,F317V,F317I,F317C,F317I,Y253H,E255K,E255V,F359V,F359C,F359I) ABL1 MUT ABL1:T315A,F317L,F317V,F317I,F317C,F317I,Y253H,E255K,E255V,F359V,F359C,F359I Approved BCR-ABL inhibitor 3rd gen Bosutinib Responsive NCCN guidelines PMID:21562040 RDientsmann CML TRUE Bosutinib (BCR-ABL inhibitor 3rd gen) Chronic myeloid leukemia ARAF oncogenic mutation ARAF MUT ARAF:. [BRAF inhibitor;EGFR mAb inhibitor] [] Resistant Case report ENA 2014 (abstr 428) RDientsmann COREAD TRUE BRAF inhibitor + EGFR mAb inhibitors Colorectal adenocarcinoma ABL1 (V299L) ABL1 MUT ABL1:V299L Pan-kinase inhibitor Cabozantinib Responsive Pre-clinical PMID:26924578 DTamborero 03/16 CANCER TRUE Cabozantinib (Pan-kinase inhibitor) Any cancer type ABL1 (V299L) ABL1 MUT ABL1:V299L ALK inhibitor Crizotinib Responsive Pre-clinical PMID:26924578 DTamborero 03/16 CANCER TRUE Crizotinib (ALK inhibitor) Any cancer type ABL1-BCR fusion ABL1 FUS ABL1__BCR Approved BCR-ABL inhibitor 2nd gen Dasatinib Responsive FDA guidelines FDA CRubio-Perez;DTamborero;RDientsmann CML;ALL TRUE "In patients who are using imatinib or second-generation TKIs first-line, resistance is associated with mutations in 10% to 68% of patients, and 14% to 33% of patients using nilotinib or dasatinib as second line treatment develop BCR-ABL1 mutations. FDA guidline https://www.accessdata.fda.gov/drugsatfda_docs/nda/2021/215358Orig1s000,Orig2s000AdminCorres.pdf " Dasatinib (BCR-ABL inhibitor 2nd gen) Chronic myeloid leukemia;Acute lymphoblastic leukemia ABL1 (F359V,F359C,F359I,Y253H,E255K,E255V) ABL1 MUT ABL1:F359V,F359C,F359I,Y253H,E255K,E255V Approved BCR-ABL inhibitor 2nd gen Dasatinib Responsive NCCN guidelines PMID:21562040 RDientsmann CML TRUE Dasatinib (BCR-ABL inhibitor 2nd gen) Chronic myeloid leukemia ARAF oncogenic mutation ARAF MUT ARAF:. [BRAF inhibitor;MEK inhibitor] [] Resistant Case report ENA 2014 (abstr 428) RDientsmann COREAD TRUE BRAF inhibitor + MEK inhibitors Colorectal adenocarcinoma ABL1-BCR fusion ABL1 FUS ABL1__BCR BCR-ABL inhibitor 2nd gen;BCL2 inhibitor Dasatinib;Venetoclax Responsive Pre-clinical PMID:27582059 RDientsmann 12/16 ALL TRUE Dasatinib + Venetoclax (BCR-ABL inhibitor 2nd gen + BCL2 inhibitor) Acute lymphoblastic leukemia ABL1 (V299L) ABL1 MUT ABL1:V299L MET inhibitor Foretinib  Responsive Pre-clinical PMID:26924578 DTamborero 03/16 CANCER TRUE Foretinib  (MET inhibitor) Any cancer type ABL1-BCR fusion ABL1 FUS ABL1__BCR Approved BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Responsive FDA guidelines EMA CRubio-Perez;DTamborero;RDientsmann CML;ALL TRUE http://www.ema.europa.eu/docs/es_ES/document_library/EPAR_-_Product_Information/human/000406/WC500022207.pdf; "In patients who are using imatinib or second-generation TKIs first-line, resistance is associated with mutations in 10% to 68% of patients, and 14% to 33% of patients using nilotinib or dasatinib as second line treatment develop BCR-ABL1 mutations. FDA guidline https://www.accessdata.fda.gov/drugsatfda_docs/nda/2021/215358Orig1s000,Orig2s000AdminCorres.pdf " Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Chronic myeloid leukemia;Acute lymphoblastic leukemia B2M oncogenic mutation B2M MUT B2M:. [PD1 Ab inhibitor] [] Resistant Case report PMID:27433843 RDientsmann 07/16 CM TRUE PD1 Ab inhibitors Cutaneous melanoma ABL1-BCR fusion ABL1 FUS ABL1__BCR Approved BCR-ABL inhibitor 2nd gen Nilotinib Responsive FDA guidelines FDA CRubio-Perez;DTamborero;RDientsmann CML TRUE In patients who are using imatinib or second-generation TKIs first-line, resistance is associated with mutations in 10% to 68% of patients, and 14% to 33% of patients using nilotinib or dasatinib as second line treatment develop BCR-ABL1 mutations. FDA guidline https://www.accessdata.fda.gov/drugsatfda_docs/nda/2021/215358Orig1s000,Orig2s000AdminCorres.pdf Nilotinib (BCR-ABL inhibitor 2nd gen) Chronic myeloid leukemia ABL1 (T315A,F317L,F317V,F317I,F317C,V299L) ABL1 MUT ABL1:T315A,F317L,F317V,F317I,F317C,V299L Approved BCR-ABL inhibitor 2nd gen Nilotinib Responsive NCCN guidelines PMID:21562040 RDientsmann CML TRUE Nilotinib (BCR-ABL inhibitor 2nd gen) Chronic myeloid leukemia ABL1-BCR fusion ABL1 FUS ABL1__BCR Approved BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor Ponatinib Responsive FDA guidelines FDA CRubio-Perez;DTamborero;RDientsmann CML;ALL TRUE Ponatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor) Chronic myeloid leukemia;Acute lymphoblastic leukemia ABL1 (T315I) ABL1 MUT ABL1:T315I Approved BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor Ponatinib Responsive FDA guidelines FDA CRubio-Perez;DTamborero;RDientsmann 12/15 CML;ALL TRUE REMAP: from T315. to T315I, 12/15 label update states the complete aminoacid change Ponatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor) Chronic myeloid leukemia;Acute lymphoblastic leukemia ABL1 (T315I) ABL1 MUT ABL1:T315I Approved BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor Ponatinib Responsive NCCN guidelines PMID:21562040 RDientsmann CML TRUE Ponatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor) Chronic myeloid leukemia ABL1 (V299L) ABL1 MUT ABL1:V299L Pan-TK inhibitor Vandetanib Responsive Pre-clinical PMID:26924578 DTamborero 03/16 CANCER TRUE Vandetanib (Pan-TK inhibitor) Any cancer type AKT1 (E17K) AKT1 MUT AKT1:E17K Clinical Trials [AKT inhibitor] [] Responsive Pre-clinical PMID:21464312;PMID:17611497;PMID:23134728; ENA 2015 (abstr B109) RDientsmann 11/15 CANCER TRUE AKT inhibitors Any cancer type AKT1 (E17K) AKT1 MUT AKT1:E17K [allosteric AKT inhibitor] [] Responsive Early trials ENA 2015 (abstract B109);PMID:28489509 RDientsmann 07/17 CANCER TRUE allosteric AKT inhibitors Any cancer type BRAF (V600E,G469A) BRAF MUT BRAF:V600E,G469A [EGFR TK inhibitor] [] Resistant Case report PMID:22773810 RDientsmann 04/16 LUAD TRUE UPDATE: delete G469A mutation in v16 GDKD? EGFR TK inhibitors Lung adenocarcinoma AKT1 (E17K) AKT1 MUT AKT1:E17K Clinical Trials [non-allosteric AKT inhibitor] [] Responsive Early trials ENA 2015 (abstract B109);PMID:28489509 RDientsmann 07/17 CANCER TRUE non-allosteric AKT inhibitors Any cancer type AKT1 (E17K) AKT1 MUT AKT1:E17K [PI3K pathway inhibitor] [] Responsive Case report PMID:26763254 RDientsmann 07/16 HNSC TRUE PI3K pathway inhibitors Head an neck squamous AKT1 (H238Y) AKT1 MUT AKT1:H238Y MTOR inhibitor Everolimus Responsive Case report ASCO 2015 (abstr 11010) RDientsmann FH TRUE Everolimus (MTOR inhibitor) Fibrous histiocytoma AKT1 (E17K) AKT1 MUT AKT1:E17K MTOR inhibitor Tensirolimus Responsive Early trials PMID:27016228 RDientsmann 07/16 ED TRUE Tensirolimus (MTOR inhibitor) Endometrium AKT2 amplification AKT2 CNA AKT2:amp Clinical Trials Allosteric AKT inhibitor MK2206 Responsive Pre-clinical ENA 2014 (abstr 373) RDientsmann CANCER TRUE MK2206 (Allosteric AKT inhibitor) Any cancer type AKT3 fusion AKT3 FUS AKT3__. Direct Clinical Trials;Clinical Trials [ATP competitive AKT inhibitor] [AZD5363,GSK2141795] Responsive Pre-clinical Cell line PMID:22722202 JAlbanell;ARovira;RDientsmann 09/15 BRCA TRUE ATP competitive AKT inhibitors (AZD5363,GSK2141795,etc) Breast adenocarcinoma ALK fusion ALK FUS ALK__. [ALK inhibitor;IGF1R inhibitor] [] Responsive Pre-clinical PMID:25173427 RDientsmann 01/16 LUAD TRUE ALK inhibitor + IGF1R inhibitors Lung adenocarcinoma ALK fusion ALK FUS ALK__. [ALK inhibitor;MEK inhibitor] [] Responsive Pre-clinical PMID:26301689 RDientsmann 01/16 LUAD TRUE ALK inhibitor + MEK inhibitors Lung adenocarcinoma ALK fusion ALK FUS ALK__. [ALK inhibitor;SRC inhibitor] [] Responsive Pre-clinical PMID:25394791 RDientsmann 01/16 LUAD TRUE ALK inhibitor + SRC inhibitors Lung adenocarcinoma ALK fusion ALK FUS ALK__. [ALK inhibitor] [] Responsive Case report PMID:26633560 RDientsmann 01/16 COREAD TRUE ALK inhibitors Colorectal adenocarcinoma ALK fusion ALK FUS ALK__. [HSP90 inhibitor] [] Responsive Early trials PMID:23553849 RDientsmann 01/16 LUAD TRUE HSP90 inhibitors Lung adenocarcinoma ALK fusion ALK FUS ALK__. [novel ALK inhibitor] [] Responsive Early trials PMID:23639470 RDientsmann 01/16 LUAD TRUE novel ALK inhibitors Lung adenocarcinoma ALK (F1174L) ALK MUT ALK:F1174L [novel ALK inhibitor] [] Responsive Pre-clinical PMID:24327273 RDientsmann 01/16 LUAD TRUE novel ALK inhibitors Lung adenocarcinoma ALK fusion ALK FUS ALK__. Approved ALK inhibitor Alectinib Responsive FDA guidelines FDA RDientsmann 12/16 LUAD TRUE Alectinib (ALK inhibitor) Lung adenocarcinoma ALK fusion ALK FUS ALK__. Approved ALK inhibitor Alectinib Responsive FDA guidelines FDA EArriola;CRubio-Perez NSCLC TRUE Alectinib (ALK inhibitor) Non-small cell lung CCND1 amplification CCND1 CNA CCND1:amp [SMO inhibitor] [] Resistant Pre-clinical PMID:24951114 DTamborero;RDientsmann MB TRUE SMO inhibitors Medulloblastoma ALK amplification ALK CNA ALK:amp Pan-TK inhibitor Brigatinib Responsive Case report ASCO 2017 (abstr 9065) RDientsmann 07/17 LUAD TRUE Brigatinib (Pan-TK inhibitor) Lung adenocarcinoma ALK (E1408V) ALK MUT ALK:E1408V Pan-TK inhibitor Brigatinib Responsive Case report ASCO 2017 (abstr 9065) RDientsmann 07/17 LUAD TRUE Brigatinib (Pan-TK inhibitor) Lung adenocarcinoma ALK (L1196M) ALK MUT ALK:L1196M Pan-TK inhibitor Brigatinib Responsive Case report ASCO 2017 (abstr 9065) RDientsmann 07/17 LUAD TRUE Brigatinib (Pan-TK inhibitor) Lung adenocarcinoma ALK fusion ALK FUS ALK__. Approved ALK inhibitor Ceritinib Responsive FDA guidelines FDA CRubio-Perez;DTamborero;RDientsmann 12/16 NSCLC;LUAD TRUE Ceritinib (ALK inhibitor) Non-small cell lung;Lung adenocarcinoma ALK fusion ALK FUS ALK__. ALK inhibitor Ceritinib Responsive Case report PMID:26633560;PMID:26933125;PMID:27742657 RDientsmann 12/16 COREAD;IM TRUE Ceritinib (ALK inhibitor) Colorectal adenocarcinoma;Inflammatory myofibroblastic ALK fusion ALK FUS ALK__. Direct Clinical Trials ALK inhibitor Ceritinib Responsive Early trials NCT02186821 ECampo HEMATO TRUE Ceritinib (ALK inhibitor) Hematologic malignancies ALK inframe insertion (1151T) ALK MUT ALK::consequence::inframe_insertion:.1151T. ALK inhibitor Ceritinib Responsive FDA guidelines PMID:24670165 RDientsmann 01/16 LUAD TRUE Ceritinib (ALK inhibitor) Lung adenocarcinoma CTNNB1 oncogenic mutation CTNNB1 MUT CTNNB1:. [Tankyrase inhibitor] [] Resistant Pre-clinical PMID:23539443 RDientsmann COREAD TRUE Tankyrase inhibitors Colorectal adenocarcinoma ALK (L1196M,S1206Y,G1269A,I1171T) ALK MUT ALK:L1196M,S1206Y,G1269A,I1171T ALK inhibitor Ceritinib Responsive FDA guidelines PMID:24670165;PMID:24327273 RDientsmann 01/16 LUAD TRUE Ceritinib (ALK inhibitor) Lung adenocarcinoma ALK fusion ALK FUS ALK__. ALK inhibitor Crizotinib Responsive Early trials PMID:24491302;NCT02270034 MMartínez;RDientsmann 09/15 LY;GB TRUE Crizotinib (ALK inhibitor) Lymphoma;Glioblastoma ALK fusion ALK FUS ALK__. Approved ALK inhibitor Crizotinib Responsive FDA guidelines FDA CRubio-Perez;DTamborero;RDientsmann NSCLC;LUAD TRUE Crizotinib (ALK inhibitor) Non-small cell lung;Lung adenocarcinoma ALK fusion ALK FUS ALK__. ALK inhibitor Crizotinib Responsive Case report PMID:20979472;PMID:24687827 RDientsmann IM;THCA TRUE Crizotinib (ALK inhibitor) Inflammatory myofibroblastic;Thyroid carcinoma EGFR inframe deletion (30-336) EGFR MUT EGFR::consequence::inframe_deletion:30-336 [EGFR inhibitor 1st gen] [] No Responsive Early trials PMID:19204207 RDientsmann G TRUE EGFR inhibitor 1st gens Glioma EGFR exon 20 insertions EGFR MUT EGFR::consequence::inframe_insertion:762-823 [EGFR inhibitor 1st gen] [] Resistant Late trials PMID:21764376;PMID:26773740;PMID:26051236 RDientsmann 12/16 L TRUE EGFR inhibitor 1st gens Lung EGFR amplification EGFR CNA EGFR:amp [EGFR inhibitor 1st gen] [] No Responsive Early trials PMID:16282176;PMID:16278407 RDientsmann G TRUE EGFR inhibitor 1st gens Glioma EGFR (D761Y) EGFR MUT EGFR:D761Y [EGFR inhibitor 1st gen] [] Resistant Case report PMID:19680293 DTamborero NSCLC TRUE EGFR inhibitor 1st gens Non-small cell lung EGFR (T790M) EGFR MUT EGFR:T790M [EGFR inhibitor 1st gen] [] Resistant Late trials PMID:19680293 DTamborero 01/16 NSCLC TRUE EGFR inhibitor 1st gens Non-small cell lung EGFR inframe deletion (30-336) EGFR MUT EGFR::consequence::inframe_deletion:30-336 [EGFR inhibitor 2nd gen] [] No Responsive Early trials PMID:19204207 RDientsmann G TRUE EGFR inhibitor 2nd gens Glioma ALK (F856S,A348D) ALK MUT ALK:F856S,A348D ALK inhibitor Crizotinib Responsive Pre-clinical PMID:26032424 RDientsmann 01/16 AML TRUE Crizotinib (ALK inhibitor) Acute myeloid leukemia EGFR amplification EGFR CNA EGFR:amp [EGFR inhibitor 2nd gen] [] No Responsive Early trials PMID:16282176;PMID:16278407 RDientsmann G TRUE EGFR inhibitor 2nd gens Glioma ALK (L1198F) ALK MUT ALK:L1198F ALK inhibitor Crizotinib Responsive Case report PMID:26698910 RDientsmann 04/16 LUAD TRUE Crizotinib (ALK inhibitor) Lung adenocarcinoma ALK (R1275Q,G1128A,I1171N,R1192P,F1245C) ALK MUT ALK:R1275Q,G1128A,I1171N,R1192P,F1245C ALK inhibitor Crizotinib Responsive Pre-clinical PMID:22072639 RDientsmann G TRUE Crizotinib (ALK inhibitor) Glioma ALK fusion ALK FUS ALK__. Pan-TK inhibitor Entrectinib Responsive Case report PMID:26633560;PMID:26933125 RDientsmann 12/16 COREAD TRUE Entrectinib (Pan-TK inhibitor) Colorectal adenocarcinoma ALK fusion ALK FUS ALK__. ALK&ROS1 inhibitor Lorlatinib Responsive Early trials PMID:26951079 RDientsmann;CRubio-Perez 07/17 NSCLC TRUE Lorlatinib (ALK&ROS1 inhibitor) Non-small cell lung ALK fusion ALK FUS ALK__. Approved Pan-TK inhibitor Brigatinib Responsive FDA guidelines FDA RDientsmann;CRubio-Perez 07/17 NSCLC TRUE Brigatinib (Pan-TK inhibitor) Non-small cell lung ALK (C1156Y) ALK MUT ALK:C1156Y ALK&ROS1 inhibitor Lorlatinib Responsive Pre-clinical PMID:27401242 RDientsmann 07/17 LUAD TRUE Lorlatinib (ALK&ROS1 inhibitor) Lung adenocarcinoma APC oncogenic mutation APC MUT APC:. [Tankyrase inhibitor] [] Responsive Pre-clinical PMID:22440753;PMID:23539443 RDientsmann COREAD TRUE Tankyrase inhibitors Colorectal adenocarcinoma EGFR (T790M) EGFR MUT EGFR:T790M [EGFR inhibitor 2nd gen] [] Resistant Late trials PMID:22452896 DTamborero 01/16 NSCLC TRUE EGFR inhibitor 2nd gens Non-small cell lung EGFR inframe deletion (30-336) EGFR MUT EGFR::consequence::inframe_deletion:30-336 [EGFR inhibitor 3rd gen] [] No Responsive Early trials PMID:19204207 RDientsmann G TRUE EGFR inhibitor 3rd gens Glioma EGFR amplification EGFR CNA EGFR:amp [EGFR inhibitor 3rd gen] [] No Responsive Early trials PMID:16282176;PMID:16278407 RDientsmann G TRUE EGFR inhibitor 3rd gens Glioma AR amplification AR CNA AR:amp [AR inhibitor next gen] [] Responsive Pre-clinical PMID:23589709;PMID:21859989 RDientsmann PRAD TRUE AR inhibitor next gens Prostate adenocarcinoma AR overexpression AR EXPR AR:over Direct Clinical Trials [AR inhibitor] [Bicalutamide,Enzalutamide,Orterone,4OHtestosterone] Responsive Early trials ASCO 2015 (abstr 1003) JAlbanell;ARovira 09/15 BRCA TRUE AR inhibitors (Bicalutamide,Enzalutamide,Orterone,4OHtestosterone,etc) Breast adenocarcinoma ERBB2 amplification ERBB2 CNA ERBB2:amp [EGFR inhibitor] [] Resistant Pre-clinical PMID:22956644 EArriola 06/16 LUAD TRUE EGFR inhibitors Lung adenocarcinoma ERBB2 amplification ERBB2 CNA ERBB2:amp [EGFR mAb inhibitor] [] Resistant Early trials PMID:22586653;PMID:23348520 RDientsmann COREAD TRUE EGFR mAb inhibitors Colorectal adenocarcinoma ERBB3 amplification ERBB3 CNA ERBB3:amp [EGFR mAb inhibitor] [] Resistant Early trials PMID:25520391 RDientsmann COREAD TRUE EGFR mAb inhibitors Colorectal adenocarcinoma ESR1-YAP1 fusion ESR1 FUS ESR1__YAP1 [ESR1 inhibitor] [] Resistant Pre-clinical PMID:24055055 RDientsmann BRCA TRUE ESR1 inhibitors Breast adenocarcinoma AR overexpression AR EXPR AR:over Direct Approved AR inhibitor Enzalutamide Responsive Early trials PMID:24882673 ARodriguez-Vida 09/15 PRAD PRAD TRUE Enzalutamide (AR inhibitor) Prostate adenocarcinoma FBXW7 oncogenic mutation FBXW7 MUT FBXW7:. [Tubulin inhibitor] [] Resistant Pre-clinical PMID:21368834 RDientsmann CANCER TRUE Tubulin inhibitors Any cancer type AR (F877L) + AR (T878A) AR;AR MUT;MUT AR:F877L;AR:T878A AR inhibitor Enzalutamide Responsive Pre-clinical PMID:27196756 RDientsmann 12/16 PRAD TRUE Enzalutamide (AR inhibitor) Prostate adenocarcinoma FBXW7 deletion FBXW7 CNA FBXW7:del [Tubulin inhibitor] [] Resistant Pre-clinical PMID:21368834 RDientsmann CANCER TRUE Tubulin inhibitors Any cancer type FGFR2 (N549H,V564F,K659M,L617V,K641R,R565A) + FGFR2 fusion FGFR2;FGFR2 MUT;FUS FGFR2:N549H,V564F,K659M,L617V,K641R,R565A;FGFR2__. [FGFR inhibitor] [] Resistant Early trials PMID:28034880;ASCO 2017 (abstr 2500) RDientsmann 07/17 CH TRUE FGFR inhibitors Cholangiocarcinoma ARAF (S214C) ARAF MUT ARAF:S214C Direct:primary target FDA approved Pan-TK inhibitor Sorafenib Responsive Case report http://www.jci.org/articles/view/72763;PMID:24569458 JAlbanell;ARovira;RDientsmann 09/15 LUAD TRUE Sorafenib (Pan-TK inhibitor) Lung adenocarcinoma AREG amplification AREG CNA AREG:amp [EGFR mAb inhibitor] [] Responsive Early trials PMID:19738126;PMID:26341080 RDientsmann 04/16 COREAD TRUE EGFR mAb inhibitors Colorectal adenocarcinoma ARID1A oncogenic mutation ARID1A MUT ARID1A:. [ATR inhibitors] [] Responsive Pre-clinical PMID:27958275 RDientsmann 07/17 CANCER TRUE ATR inhibitors Any cancer type ARID1A oncogenic mutation ARID1A MUT ARID1A:. [EZH2 inhibitor] [] Responsive Pre-clinical PMID:25686104 RDientsmann 01/16 OV TRUE EZH2 inhibitors Ovary ARID1A oncogenic mutation ARID1A MUT ARID1A:. [PARP inhibitor] [] Responsive Pre-clinical PMID:26069190 RDientsmann 11/15 CANCER TRUE PARP inhibitors Any cancer type FGFR3 (V555M) FGFR3 MUT FGFR3:V555M [FGFR inhibitor] [] Resistant Pre-clinical PMID:22869148 RDientsmann MYMA TRUE FGFR inhibitors Myeloma GLI2 amplification GLI2 CNA GLI2:amp [SMO inhibitor] [] Resistant Pre-clinical PMID:24951114 DTamborero;RDientsmann MB TRUE SMO inhibitors Medulloblastoma ATM oncogenic mutation ATM MUT ATM:. [ATR inhibitor] [] Responsive Case report ENA 2015 (abstr A48) RDientsmann 11/15 COREAD TRUE ATR inhibitors Colorectal adenocarcinoma ATM deletion ATM CNA ATM:del [ATR inhibitor] [] Responsive Case report ENA 2015 (abstr A48) RDientsmann 11/15 COREAD TRUE ATR inhibitors Colorectal adenocarcinoma ATM oncogenic mutation ATM MUT ATM:. [DNA-PKc inhibitor] [] Responsive Pre-clinical PMID:23761041 RDientsmann 11/15 LY TRUE DNA-PKc inhibitors Lymphoma ATM deletion ATM CNA ATM:del [DNA-PKc inhibitor] [] Responsive Pre-clinical PMID:23761041 RDientsmann 11/15 LY TRUE DNA-PKc inhibitors Lymphoma ATM oncogenic mutation ATM MUT ATM:. [PARP inhibitor] [] Responsive Early trials ENA 2014 (abstr 8LBA) RDientsmann ST TRUE PARP inhibitors Stomach ATM deletion ATM CNA ATM:del [PARP inhibitor] [] Responsive Early trials ENA 2014 (abstr 8LBA) RDientsmann ST TRUE PARP inhibitors Stomach ATM biallelic inactivation ATM BIA ATM:. Indirect Clinical Trials ATR inhibitor AZD6738 Responsive Early trials NCT01955668;https://ash.confex.com/ash/2014/webprogram/Paper71027.html ECampo BCL TRUE AZD6738 (ATR inhibitor) B cell lymphoma ATM oncogenic mutation ATM MUT ATM:. Indirect Approved Chemotherapy Cisplatin Responsive Early trials PMID:26238431 ARodriguez-Vida 09/15 BLCA BLCA TRUE Cisplatin (Chemotherapy) Bladder ATM deletion ATM CNA ATM:del Indirect Approved Chemotherapy Cisplatin Responsive Early trials PMID:26238431 ARodriguez-Vida 09/15 BLCA BLCA TRUE Cisplatin (Chemotherapy) Bladder ATM oncogenic mutation ATM MUT ATM:. Approved PARP inhibitor Olaparib Responsive Early trials ENA 2014 (abstr 8LBA) RDientsmann;RShadrina;SDemajo 01/16 ST TRUE Olaparib (PARP inhibitor) Stomach ATM oncogenic mutation ATM MUT ATM:. Chemotherapy Temozolomide Responsive Pre-clinical PMID:23960094 RDientsmann G TRUE Temozolomide (Chemotherapy) Glioma ATR oncogenic mutation ATR MUT ATR:. Indirect Approved PARP inhibitor Olaparib Responsive Pre-clinical Cell line PMID:23548269 CRubio-Perez;ECampo;RDientsmann OV;CANCER TRUE Olaparib (PARP inhibitor) Ovary;Any cancer type ATR deletion ATR CNA ATR:del Indirect Approved PARP inhibitor Olaparib Responsive Pre-clinical Cell line PMID:23548269 CRubio-Perez;ECampo;RDientsmann OV;CANCER TRUE Olaparib (PARP inhibitor) Ovary;Any cancer type ATR oncogenic mutation ATR MUT ATR:. Chemotherapy Temozolomide Responsive Pre-clinical PMID:23960094 RDientsmann G TRUE Temozolomide (Chemotherapy) Glioma AURKA amplification AURKA CNA AURKA:amp [AURK inhibitor] [] Responsive Pre-clinical PMID:22302096;PMID:22389870 RDientsmann PRAD;CANCER TRUE AURK inhibitors Prostate adenocarcinoma;Any cancer type IGF2 amplification IGF2 CNA IGF2:amp [EGFR mAb inhibitor] [] Resistant Early trials PMID:25632036 RDientsmann COREAD TRUE EGFR mAb inhibitors Colorectal adenocarcinoma BAP1 oncogenic mutation BAP1 MUT BAP1:. [EZH2 inhibitor] [] Responsive Pre-clinical PMID:26437366 RDientsmann 11/15 MESO TRUE EZH2 inhibitors Mesothelioma BAP1 deletion BAP1 CNA BAP1:del [EZH2 inhibitor] [] Responsive Pre-clinical PMID:26437366 RDientsmann 11/15 MESO TRUE EZH2 inhibitors Mesothelioma BAP1 oncogenic mutation BAP1 MUT BAP1:. [HDAC inhibitor] [] Responsive Pre-clinical PMID:22038994 RDientsmann CM TRUE HDAC inhibitors Cutaneous melanoma BAP1 deletion BAP1 CNA BAP1:del [HDAC inhibitor] [] Responsive Pre-clinical PMID:22038994 RDientsmann CM TRUE HDAC inhibitors Cutaneous melanoma BAP1 oncogenic mutation BAP1 MUT BAP1:. [PARP inhibitor] [] Responsive Pre-clinical PMID:22683710 RDientsmann R;CANCER TRUE PARP inhibitors Renal;Any cancer type BAP1 deletion BAP1 CNA BAP1:del [PARP inhibitor] [] Responsive Pre-clinical PMID:22683710 RDientsmann R;CANCER TRUE PARP inhibitors Renal;Any cancer type BCL2 overexpression BCL2 EXPR BCL2:over BCL2 inhibitor;Proteasome inhibitor Venetoclax;Bortezomib Responsive Early trials ASH 2015 (Blood 2015 126:2975) CRubio-Perez 02/17 MM TRUE Venetoclax + Bortezomib (BCL2 inhibitor + Proteasome inhibitor) Multiple myeloma BCL2 amplification BCL2 CNA BCL2:amp [BCL2 inhibitor] [] Responsive Pre-clinical PMID:22649144 RDientsmann LY TRUE BCL2 inhibitors Lymphoma BCL6 overexpression BCL6 EXPR BCL6:over HSP90 inhibitor Onalespib Responsive Early trials NCT02572453 CRubio-Perez 02/17 LY TRUE Onalespib (HSP90 inhibitor) Lymphoma BCOR oncogenic mutation BCOR MUT BCOR:. PKCb inhibitor Enzastaurin Responsive Pre-clinical PMID:27397505 RDientsmann 07/16 ST TRUE Enzastaurin (PKCb inhibitor) Stomach JAK1 oncogenic mutation JAK1 MUT JAK1:. [PD1 inhibitor] [] Resistant Case report PMID:27903500 RDientsmann 07/17 COREAD TRUE PD1 inhibitors Colorectal adenocarcinoma JAK1 oncogenic mutation JAK1 MUT JAK1:. [PD1 inhibitor] [] Resistant Case report PMID:27433843 RDientsmann 07/16 CM TRUE PD1 inhibitors Cutaneous melanoma JAK2 oncogenic mutation JAK2 MUT JAK2:. [PD1 inhibitor] [] Resistant Case report PMID:27433843 RDientsmann 07/16 CM TRUE PD1 inhibitors Cutaneous melanoma BRAF (V600E) BRAF MUT BRAF:V600E [BRAF inhibitor;CDK2/4 inhibitor] [] Responsive Pre-clinical PMID:22997239 RDientsmann 01/16 CM TRUE BRAF inhibitor + CDK2/4 inhibitors Cutaneous melanoma BRAF (V600) BRAF MUT BRAF:V600. [BRAF inhibitor;EGFR mAb inhibitor +/- PI3K inhibitor] [] Responsive Early trials PMID:28363909 RDientsmann 07/17 COREAD TRUE BRAF inhibitor + EGFR mAb inhibitor +/- PI3K inhibitors Colorectal adenocarcinoma BRAF (V600E) BRAF MUT BRAF:V600E [BRAF inhibitor;HSP90 inhibitor] [] Responsive Pre-clinical PMID:22351686 RDientsmann 01/16 CM TRUE BRAF inhibitor + HSP90 inhibitors Cutaneous melanoma BRAF (V600E) BRAF MUT BRAF:V600E [BRAF inhibitor;MEK inhibitor] [] Responsive Early trials ASCO 2013 (abstr 9029) RDientsmann 01/16 TH TRUE BRAF inhibitor + MEK inhibitors Thyroid BRAF fusion BRAF FUS BRAF__. [BRAF inhibitor;MEK inhibitor] [] Responsive Case report ASCO 2017 (abstr 9072) RDientsmann 07/17 LUAD TRUE BRAF inhibitor + MEK inhibitors Lung adenocarcinoma BRAF (V600E) BRAF MUT BRAF:V600E [BRAF inhibitor;PI3K pathway inhibitor] [] Responsive Pre-clinical PMID:22389471;PMID:21156289 RDientsmann 01/16 CM TRUE BRAF inhibitor + PI3K pathway inhibitors Cutaneous melanoma BRAF (L597R) BRAF MUT BRAF:L597R [BRAF inhibitor] [] Responsive Case report PMID:23715574 RDientsmann 01/16 CM TRUE BRAF inhibitors Cutaneous melanoma BRAF (V600E) BRAF MUT BRAF:V600E [BRAF inhibitor] [] Responsive Pre-clinical PMID:22038996;PMID:22586120 RDientsmann G TRUE BRAF inhibitors Glioma BRAF (V600E) BRAF MUT BRAF:V600E [BRAF inhibitor] [] Responsive Case report PMID:22608338 RDientsmann OV TRUE BRAF inhibitors Ovary KRAS oncogenic mutation KRAS MUT KRAS:. [PI3K pathway inhibitor;MEK inhibitor] [] No Responsive Early trials ASCO 2015 (abstr 4119) RDientsmann 01/16 PA TRUE PI3K pathway inhibitor + MEK inhibitors Pancreas BRAF (V600E) BRAF MUT BRAF:V600E [ERK inhibitor] [] Responsive Pre-clinical PMID:23614898;PMID:22997239 RDientsmann 01/16 CM TRUE ERK inhibitors Cutaneous melanoma BRAF (G469A) BRAF MUT BRAF:G469A [ERK inhibitor] [] Responsive Case report ASCO 2017 (abstr 2508) RDientsmann 07/17 HNSC TRUE ERK inhibitors Head an neck squamous BRAF (L485W) BRAF MUT BRAF:L485W [ERK inhibitor] [] Responsive Case report ASCO 2017 (abstr 2508) RDientsmann 07/17 BT TRUE ERK inhibitors Billiary tract BRAF (V600E) BRAF MUT BRAF:V600E [ERK inhibitor] [] Responsive Early trials ASCO 2017 (abstr 2508) RDientsmann 07/17 LUAD TRUE ERK inhibitors Lung adenocarcinoma BRAF (V600E) BRAF MUT BRAF:V600E [MEK inhibitor] [] Responsive Early trials PMID:22241789 RDientsmann 01/16 TH TRUE MEK inhibitors Thyroid BRAF (V600E) BRAF MUT BRAF:V600E [MEK inhibitor] [] Responsive Pre-clinical PMID:19018267 RDientsmann OV TRUE MEK inhibitors Ovary BRAF inframe deletion (L485),inframe deletion (P490) BRAF MUT BRAF::consequence::inframe_deletion:L485.,::inframe_deletion:P490. [Pan-RAF inhibitor] [] Responsive Pre-clinical PMID:26732095 RDientsmann 04/16 CANCER TRUE Pan-RAF inhibitors Any cancer type BRAF (V600E) BRAF MUT BRAF:V600E [Pan-RAF inhibitor] [] Responsive Early trials ESMO 2015 (abstract 300);AACR 2016 (abstr CT005);AACR 2017 (abstr CT002) RDientsmann 07/17 CM TRUE Pan-RAF inhibitors Cutaneous melanoma BRAF fusion BRAF FUS BRAF__. [MEK inhibitor] [Trametinib] Responsive Pre-clinical PMID:24727320;PMID:24345920;PMID:20526349 RDientsmann LUAD;CM;PRAD TRUE MEK inhibitors (Trametinib,etc) Lung adenocarcinoma;Cutaneous melanoma;Prostate adenocarcinoma BRAF (K601R,L597R,V600R) BRAF MUT BRAF:K601R,L597R,V600R [MEK inhibitor] [Trametinib] Responsive Case report PMID:23248257;PMID:22805292;PMID:23248257 RDientsmann CM TRUE MEK inhibitors (Trametinib,etc) Cutaneous melanoma KRAS (G13D) KRAS MUT KRAS:G13D EGFR mAb inhibitor Cetuximab No Responsive Late trials PMID:27114605 RDientsmann 06/16 COREAD TRUE Cetuximab (EGFR mAb inhibitor) Colorectal adenocarcinoma BRAF (V600E) BRAF MUT BRAF:V600E BRAF inhibitor Dabrafenib Responsive Early trials PMID:23524406;PMID:22608338;ASCO 2013 (abstr 8009);ESMO 2014 (abstr LBA38_PR);PMID:20818844;PMID:23489023;PMID:27080216 RDientsmann 04/16 LUAD;TH TRUE Dabrafenib (BRAF inhibitor) Lung adenocarcinoma;Thyroid BRAF (V600E) BRAF MUT BRAF:V600E Approved BRAF inhibitor Dabrafenib Responsive NCCN guidelines NCCN CRubio-Perez 06/16 NSCLC TRUE Dabrafenib (BRAF inhibitor) Non-small cell lung BRAF (V600E) BRAF MUT BRAF:V600E Approved BRAF inhibitor Dabrafenib Responsive FDA guidelines FDA CRubio-Perez;DTamborero;RDientsmann CM TRUE Dabrafenib (BRAF inhibitor) Cutaneous melanoma BRAF (V600E) BRAF MUT BRAF:V600E BRAF inhibitor Dabrafenib Responsive Case report PMID:23470635;PMID:22608338 RDientsmann GIST TRUE Dabrafenib (BRAF inhibitor) Gastrointestinal stromal BRAF (V600R) BRAF MUT BRAF:V600R BRAF inhibitor Dabrafenib Responsive Early trials PMID:23237741 RDientsmann CM TRUE Dabrafenib (BRAF inhibitor) Cutaneous melanoma BRAF (V600E) BRAF MUT BRAF:V600E BRAF inhibitor;MEK inhibitor Dabrafenib;Trametinib Responsive Early trials PMID:26392102;ASCO 2015 (abstr 8006) RDientsmann 01/16 COREAD TRUE Dabrafenib + Trametinib (BRAF inhibitor + MEK inhibitor) Colorectal adenocarcinoma BRAF (V600E) BRAF MUT BRAF:V600E BRAF inhibitor;MEK inhibitor Dabrafenib;Trametinib Responsive Case report PMID:27048246 RDientsmann 07/16 NEU TRUE Dabrafenib + Trametinib (BRAF inhibitor + MEK inhibitor) Neuroendocrine BRAF (V600E) BRAF MUT BRAF:V600E BRAF inhibitor;MEK inhibitor Dabrafenib;Trametinib Responsive FDA guidelines PMID:27283860 RDientsmann 12/16 LUAD TRUE Dabrafenib + Trametinib (BRAF inhibitor + MEK inhibitor) Lung adenocarcinoma BRAF (V600E,V600K) BRAF MUT BRAF:V600E,V600K Approved BRAF inhibitor;MEK inhibitor Dabrafenib;Trametinib Responsive FDA guidelines FDA RDientsmann CM TRUE Dabrafenib + Trametinib (BRAF inhibitor + MEK inhibitor) Cutaneous melanoma BRAF (G466V) BRAF MUT BRAF:G466V BCR-ABL inhibitor 2nd gen Dasatinib Responsive Pre-clinical PMID:22649091 RDientsmann LUAD TRUE Dasatinib (BCR-ABL inhibitor 2nd gen) Lung adenocarcinoma BRAF (Y472C) BRAF MUT BRAF:Y472C BCR-ABL inhibitor 2nd gen Dasatinib Responsive Case report PMID:22649091 RDientsmann LUAD TRUE Dasatinib (BCR-ABL inhibitor 2nd gen) Lung adenocarcinoma BRAF (V600) BRAF MUT BRAF:V600. TOPO1 inhibitor;BRAF inhibitor;EGFR mAb inhibitor Irinotecan;Vemurafenib;Cetuximab Responsive Early trials PMID:27729313 RDientsmann 07/17 COREAD TRUE Irinotecan + Vemurafenib + Cetuximab (TOPO1 inhibitor + BRAF inhibitor + EGFR mAb inhibitor) Colorectal adenocarcinoma KRAS oncogenic mutation KRAS MUT KRAS:. MEK inhibitor Selumetinib No Responsive Early trials PMID:26802155 RDientsmann 04/16 L TRUE Selumetinib (MEK inhibitor) Lung BRAF (V600) BRAF MUT BRAF:V600. Indirect Approved; Approved;Clinical Trials EGFR mAb inhibitor;BRAF inhibitor;PI3K inhibitor Panitumumab;Dabrafenib;BYL719 Responsive Early trials ENA 2014 (abstr 11LBA) RDientsmann 01/16 COREAD TRUE Panitumumab + Dabrafenib + BYL719 (EGFR mAb inhibitor + BRAF inhibitor + PI3K inhibitor) Colorectal adenocarcinoma BRAF (V600E) BRAF MUT BRAF:V600E Indirect Approved; Approved;Clinical Trials EGFR mAb inhibitor;BRAF inhibitor;MEK inhibitor Panitumumab;Dabrafenib;Trametinib Responsive Early trials ASCO 2014 (abstr 3515);ASCO 2015 (abstr 103) RDientsmann 01/16 COREAD TRUE Panitumumab + Dabrafenib + Trametinib (EGFR mAb inhibitor + BRAF inhibitor + MEK inhibitor) Colorectal adenocarcinoma BRAF (V600E) BRAF MUT BRAF:V600E BRAF inhibitor PLX4720 Responsive Pre-clinical Cell line PMC3638050 MMartínez 09/15 MA TRUE PLX4720 (BRAF inhibitor) Malignant astrocytoma BRAF fusion BRAF FUS BRAF__. MEK inhibitor Selumetinib Responsive Case report PMID:26324360 RDientsmann 01/16 OV TRUE Selumetinib (MEK inhibitor) Ovary BRAF (V600E) BRAF MUT BRAF:V600E Clinical Trials MEK inhibitor Selumetinib Responsive Early trials NCT01089101 MMartínez 09/15 PG TRUE Selumetinib (MEK inhibitor) Pediatric glioma BRAF fusion BRAF FUS BRAF__. Pan-TK inhibitor Sorafenib Responsive Pre-clinical PMID:238900088;PMID:20526349;PMID:24727320 RDientsmann CM;LUAD;PRAD TRUE Sorafenib (Pan-TK inhibitor) Cutaneous melanoma;Lung adenocarcinoma;Prostate adenocarcinoma BRAF (D594G,G469E) BRAF MUT BRAF:D594G,G469E Pan-TK inhibitor Sorafenib Responsive Pre-clinical PMID:18794803 RDientsmann CM TRUE Sorafenib (Pan-TK inhibitor) Cutaneous melanoma BRAF (V600E,V600K) BRAF MUT BRAF:V600E,V600K Approved MEK inhibitor Trametinib Responsive FDA guidelines FDA CRubio-Perez;DTamborero;RDientsmann;SDemajo CM TRUE Although trametinib is FDA approved for single-agent use to treat patients with unresectable or metastatic melanoma with BRAF V600E mutation, Trametinib monotherapy is no longer an NCCN-recommended treatment option due to relatively poor efficacy compared with BRAF inhibitor monotherapy and BRAF/MEK inhibitor combination therapy. Trametinib (MEK inhibitor) Cutaneous melanoma NRAS (12,13,59,61,117,146) NRAS MUT NRAS:.12.,.13.,.59.,.61.,.117.,.146. Approved EGFR mAb inhibitor Cetuximab Resistant NCCN guidelines PMID:24024839;PMID:20619739;PMID:23325582 RDientsmann COREAD TRUE Cetuximab (EGFR mAb inhibitor) Colorectal adenocarcinoma KRAS amplification KRAS CNA KRAS:amp [BRAF inhibitor;EGFR mAb inhibitor] [] Resistant Case report ENA 2014 (abstr 428) RDientsmann COREAD TRUE BRAF inhibitor + EGFR mAb inhibitors Colorectal adenocarcinoma BRAF (V600D,V600K,V600M,V600G,V600R) BRAF MUT BRAF:V600D,V600K,V600M,V600G,V600R Approved BRAF inhibitor Vemurafenib Responsive NCCN guidelines NCCN CRubio-Perez 16/06 CM TRUE Vemurafenib (BRAF inhibitor) Cutaneous melanoma BRAF (V600E) BRAF MUT BRAF:V600E Approved BRAF inhibitor Vemurafenib Responsive Case report PMID:22743296;PMID:22621641;PMID:23612012 RDientsmann 04/16 LUAD;HCL;MYMA TRUE Vemurafenib (BRAF inhibitor) Lung adenocarcinoma;Hairy-Cell leukemia;Myeloma BRAF (V600E) BRAF MUT BRAF:V600E Approved BRAF inhibitor Vemurafenib Responsive Early trials PMID:22586120 MMartínez 09/15 MA TRUE Vemurafenib (BRAF inhibitor) Malignant astrocytoma BRAF (V600E) BRAF MUT BRAF:V600E Approved BRAF inhibitor Vemurafenib Responsive FDA guidelines FDA CRubio-Perez;DTamborero;RDientsmann CM TRUE Vemurafenib (BRAF inhibitor) Cutaneous melanoma BRAF (V600E) BRAF MUT BRAF:V600E Approved BRAF inhibitor Vemurafenib Responsive Early trials PMID:22608338;PMID:20818844;PMID:23489023 RDientsmann THCA TRUE Vemurafenib (BRAF inhibitor) Thyroid carcinoma BRAF (V600E,V600D,V600K,V600M,V600G,V600R) BRAF MUT BRAF:V600E,V600D,V600K,V600M,V600G,V600R Indirect Approved BRAF inhibitor Vemurafenib Responsive NCCN guidelines PMID:26287849 DTamborero NSCLC;HISLC;HISEC TRUE Vemurafenib (BRAF inhibitor) Non-small cell lung;Lagerhans cell histiocytosis;Erdheim-Chester histiocytosis BRAF (V600E,V600K) BRAF MUT BRAF:V600E,V600K Approved BRAF inhibitor;MEK inhibitor Vemurafenib;Cobimetinib Responsive FDA guidelines FDA RDientsmann 11/15 CM TRUE Vemurafenib + Cobimetinib (BRAF inhibitor + MEK inhibitor) Cutaneous melanoma BRAF (G469A) + EGFR oncogenic mutation BRAF;EGFR MUT;MUT BRAF:G469A;EGFR:. [EGFR TK inhibitor;MEK inhibitor] [] Responsive Pre-clinical PMID:22773810 RDientsmann 01/16 LUAD TRUE EGFR TK inhibitor + MEK inhibitors Lung adenocarcinoma BRCA1 oncogenic mutation BRCA1 MUT BRCA1:. [PARP inhibitor;Chemotherapy] [] Responsive Early trials PMID:22307137;ASCO 2012 (abstr 1009) RDientsmann 04/16 OV TRUE PARP inhibitor + Chemotherapys Ovary BRCA1 oncogenic mutation BRCA1 MUT BRCA1:. [PARP inhibitor] [] Responsive Case report PMID:25366685;PMID:25719666;PMID:19553641;PMID:25366685 RDientsmann PA TRUE PARP inhibitors Pancreas BRCA1 deletion BRCA1 CNA BRCA1:del [PARP inhibitor] [] Responsive Pre-clinical PMID:22392482 RDientsmann OV TRUE PARP inhibitors Ovary BRCA1 oncogenic mutation BRCA1 MUT BRCA1:. [WEE1 inhibitor] [] Responsive Case report PMID:25964244 RDientsmann CANCER TRUE WEE1 inhibitors Any cancer type BRCA1 oncogenic mutation BRCA1 MUT BRCA1:. [PARP inhibitor] [Olaparib] Responsive Early trials PMID:20609467;PMID:25366685 RDientsmann;JAlbanell BRCA TRUE PARP inhibitors (Olaparib,etc) Breast adenocarcinoma BRCA1 oncogenic mutation BRCA1 MUT BRCA1:. Approved PARP inhibitor Olaparib Responsive FDA guidelines PMID:26510020;PMID: 32343890 RDientsmann;RShadrina;SDemajo 06/22 PRAD TRUE Olaparib (PARP inhibitor) Prostate adenocarcinoma BRCA1 oncogenic mutation BRCA1 MUT BRCA1:. Approved PARP inhibitor Olaparib Responsive FDA guidelines FDA RDientsmann 04/16 OV TRUE Olaparib (PARP inhibitor) Ovary BRCA1 oncogenic mutation BRCA1 MUT BRCA1:. Chemotherapy Platinum Agent Responsive Early trials PMID:25847936 RDientsmann 01/16 BRCA TRUE Platinum Agent (Chemotherapy) Breast adenocarcinoma BRCA1 oncogenic mutation BRCA1 MUT BRCA1:. Chemotherapy Platinum Agent Responsive Late trials PMID:22406760;PMID:22711857 RDientsmann 04/16 OV TRUE Platinum Agent (Chemotherapy) Ovary BRCA1 oncogenic mutation BRCA1 MUT BRCA1:. Approved PARP inhibitor Rucaparib Responsive FDA guidelines FDA RDientsmann 04/16 OV TRUE Rucaparib (PARP inhibitor) Ovary BRCA1 oncogenic mutation BRCA1 MUT BRCA1:. PARP inhibitor;Chemotherapy Veliparib;Cisplatin Responsive Early trials PMID:26801247 RDientsmann 07/16 BRCA TRUE Veliparib + Cisplatin (PARP inhibitor + Chemotherapy) Breast adenocarcinoma BRCA2 oncogenic mutation BRCA2 MUT BRCA2:. [PARP inhibitor;Chemotherapy] [] Responsive Early trials PMID:22307137;ASCO 2012 (abstr 1009) RDientsmann 04/16 OV TRUE PARP inhibitor + Chemotherapys Ovary BRCA2 oncogenic mutation BRCA2 MUT BRCA2:. [PD1 Ab inhibitor] [] Responsive Case report PMID:26997480 RDientsmann 04/16 CM TRUE PD1 Ab inhibitors Cutaneous melanoma BRCA2 oncogenic mutation BRCA2 MUT BRCA2:. Indirect Approved [PARP inhibitor] [Olaparib] Responsive Early trials PMID:20609467 JAlbanell;ARovira;RDientsmann 09/15 BRCA TRUE PARP inhibitors (Olaparib,etc) Breast adenocarcinoma BRCA2 deletion BRCA2 CNA BRCA2:del [PARP inhibitor] [Olaparib] Responsive Pre-clinical PMID:22392482 RDientsmann OV TRUE PARP inhibitors (Olaparib,etc) Ovary BRCA2 oncogenic mutation BRCA2 MUT BRCA2:. Indirect Approved PARP inhibitor Olaparib Responsive FDA guidelines PMID:26510020;PMID: 32343890;NCT01682772;http://cancerres.aacrjournals.org/content/75/15_Supplement/CT322 RDientsmann;ARodriguez-Vida;RShadrina;SDemajo 06/22 PRAD TRUE Olaparib (PARP inhibitor) Prostate adenocarcinoma BRCA2 oncogenic mutation BRCA2 MUT BRCA2:. Approved PARP inhibitor Olaparib Responsive FDA guidelines FDA RDientsmann OV TRUE Olaparib (PARP inhibitor) Ovary BRCA2 oncogenic mutation BRCA2 MUT BRCA2:. Chemotherapy Platinum Agent Responsive Early trials PMID:25847936 RDientsmann 01/16 BRCA TRUE Platinum Agent (Chemotherapy) Breast adenocarcinoma BRCA2 oncogenic mutation BRCA2 MUT BRCA2:. Chemotherapy Platinum Agent Responsive Late trials PMID:22406760;PMID:22711857 RDientsmann 04/16 OV TRUE Platinum Agent (Chemotherapy) Ovary BRCA2 oncogenic mutation BRCA2 MUT BRCA2:. Chemotherapy Platinum Agent Responsive Case report PMID:25719666 RDientsmann PA TRUE Platinum Agent (Chemotherapy) Pancreas BRCA2 oncogenic mutation BRCA2 MUT BRCA2:. Approved PARP inhibitor Rucaparib Responsive FDA guidelines FDA RDientsmann 04/16 OV TRUE Rucaparib (PARP inhibitor) Ovary BRCA2 oncogenic mutation BRCA2 MUT BRCA2:. PARP inhibitor;Chemotherapy Veliparib;Cisplatin Responsive Early trials PMID:26801247 RDientsmann 07/16 BRCA TRUE Veliparib + Cisplatin (PARP inhibitor + Chemotherapy) Breast adenocarcinoma KRAS amplification KRAS CNA KRAS:amp [BRAF inhibitor;MEK inhibitor] [] Resistant Case report ENA 2014 (abstr 428) RDientsmann COREAD TRUE BRAF inhibitor + MEK inhibitors Colorectal adenocarcinoma BRD4-C15orf55 fusion C15orf55 FUS BRD4__C15orf55 [BET inhibitor] [] Responsive Case report ENA 2015 (abstr A49) RDientsmann 11/15 NMC TRUE BET inhibitors NUT midline carcinoma CA9 overexpression CA9 EXPR CA9:over Indirect Approved Pan-TK inhibitor Sunitinib Responsive Pre-clinical Cell line PMID:24086736 ARodriguez-Vida 09/15 R TRUE Sunitinib (Pan-TK inhibitor) Renal CBL (Y371H,C384R) CBL MUT CBL:Y371H,C384R [JAK inhibitor] [] Responsive Pre-clinical PMID:23696637 RDientsmann MDPS TRUE JAK inhibitors Myelodisplasic proliferative syndrome CBL (Y371H,C384R) CBL MUT CBL:Y371H,C384R BCR-ABL inhibitor 2nd gen Dasatinib Responsive Pre-clinical PMID:23696637 RDientsmann MDPS TRUE Dasatinib (BCR-ABL inhibitor 2nd gen) Myelodisplasic proliferative syndrome CCND1 amplification CCND1 CNA CCND1:amp [CDK4/6 inhibitor] [] Responsive Case report ASCO 2014 (abstr 2528) RDientsmann CM TRUE CDK4/6 inhibitors Cutaneous melanoma CCND1 amplification CCND1 CNA CCND1:amp [CDK4/6 inhibitor] [] Responsive Pre-clinical PMID:22471707 RDientsmann CANCER TRUE CDK4/6 inhibitors Any cancer type KRAS (12,13) KRAS MUT KRAS:.12.,.13. Approved EGFR mAb inhibitor Cetuximab Resistant FDA guidelines FDA guidelines CRubio-Perez COREAD TRUE Cetuximab (EGFR mAb inhibitor) Colorectal adenocarcinoma KRAS oncogenic mutation KRAS MUT KRAS:. [EGFR inhibitor] [] Resistant Pre-clinical PMID:19238210 DTamborero NSCLC TRUE EGFR inhibitors Non-small cell lung KRAS oncogenic mutation KRAS MUT KRAS:. [EGFR mAb inhibitor] [] Resistant Pre-clinical PMID:22614881;PMID:22290393 RDientsmann ST TRUE EGFR mAb inhibitors Stomach CCND2 amplification CCND2 CNA CCND2:amp [CDK4/6 inhibitor] [] Responsive Pre-clinical PMID:22471707 RDientsmann CANCER TRUE CDK4/6 inhibitors Any cancer type CCND2 amplification CCND2 CNA CCND2:amp Indirect Approved CDK4/6 inhibitor Palbociclib Responsive Early trials NCT02154490 CRubio-Perez;DTamborero L TRUE Palbociclib (CDK4/6 inhibitor) Lung CCND3 amplification CCND3 CNA CCND3:amp [CDK4/6 inhibitor] [] Responsive Pre-clinical PMID:22471707 RDientsmann CANCER TRUE CDK4/6 inhibitors Any cancer type CCNE1 amplification CCNE1 CNA CCNE1:amp [CDK2 inhibitor] [] Responsive Pre-clinical PMID:22471707 RDientsmann CANCER TRUE CDK2 inhibitors Any cancer type CD274 (PD-L1) amplification CD274 CNA CD274:amp [PD1 Ab inhibitor] [] Responsive Case report PMID:27942391 RDientsmann 07/17 BCC TRUE PD1 Ab inhibitors Basal cell carcinoma CD274 (PD-L1) amplification CD274 CNA CD274:amp [PDL1 inhibitor] [] Responsive Pre-clinical PMID:25079317 RDientsmann CANCER TRUE PDL1 inhibitors Any cancer type CD274 (PD-L1) overexpression CD274 EXPR CD274:over Direct Clinical Trials PDL1 inhibitor Atezolizumab Responsive Early trials NCT01375842;doi: 10.1093/annonc/mdu337.2 ARodriguez-Vida 09/15 CM;R;CANCER BLCA TRUE Atezolizumab (PDL1 inhibitor) Cutaneous melanoma;Renal;Any cancer type CD274 (PD-L1) overexpression CD274 EXPR CD274:over Indirect Clinical Trials PD1 Ab inhibitor Nivolumab Responsive Early trials PMID:25452452 ARodriguez-Vida 09/15 R R TRUE Nivolumab (PD1 Ab inhibitor) Renal CD274 (PD-L1) overexpression CD274 EXPR CD274:over Indirect Clinical Trials PD1 Ab Pembrolizumab Responsive Early trials NCT01848834 ARodriguez-Vida 09/15 BLCA BLCA TRUE Pembrolizumab (PD1 Ab) Bladder CD69 undexpression CD69 EXPR CD69:under Approved Alkylating agent Bendamustine Responsive Pre-clinical Cell line PMID:26701728 CRubio-Perez 01/16 CLL TRUE Ibrutinib and idelalisib as adjuvants (not added) Bendamustine (Alkylating agent) Chronic lymphocytic leukemia CDH1 oncogenic mutation CDH1 MUT CDH1:. AR inhibitor Bicalutamide Responsive Pre-clinical PMID:27397505 RDientsmann 07/16 BRCA TRUE Bicalutamide (AR inhibitor) Breast adenocarcinoma CDK12 oncogenic mutation CDK12 MUT CDK12:. [PARP inhibitors] [] Responsive Pre-clinical PMID:24240700;PMID:24554720 RDientsmann 12/16 OV TRUE PARP inhibitors Ovary CDK12 amplification CDK12 CNA CDK12:amp [PARP inhibitors] [] Responsive Pre-clinical PMID:24240700;PMID:24554720 RDientsmann 12/16 OV TRUE PARP inhibitors Ovary CDK4 oncogenic mutation CDK4 MUT CDK4:. Direct Clinical Trials CDK4/6 inhibitor LEE011 Responsive Early trials NCT02187783;NCT01237236; http://meetinglibrary.asco.org/content/83791-102 CRubio-Perez;DTamborero LIP;LY;CANCER TRUE LEE011 (CDK4/6 inhibitor) Liposarcoma;Lymphoma;Any cancer type CDK4 amplification CDK4 CNA CDK4:amp Direct Clinical Trials CDK4/6 inhibitor LEE011 Responsive Early trials NCT02187783;NCT01237236; http://meetinglibrary.asco.org/content/83791-102 CRubio-Perez;DTamborero LIP;LY;CANCER TRUE LEE011 (CDK4/6 inhibitor) Liposarcoma;Lymphoma;Any cancer type CDK4 amplification + RB1 expression CDK4;RB1 CNA;EXPR CDK4:amp;RB1:norm [CDK4 inhibitor] [] Responsive Early trials PMID:23569312 RDientsmann LIP TRUE CDK4 inhibitors Liposarcoma CDK6 amplification CDK6 CNA CDK6:amp [CDK6 inhibitor] [] Responsive Pre-clinical PMID:22471707 RDientsmann CANCER TRUE CDK6 inhibitors Any cancer type CDK6 oncogenic mutation CDK6 MUT CDK6:. Direct Clinical Trials CDK4/6 inhibitor LEE011 Responsive Early trials NCT02187783;NCT01237236 CRubio-Perez;DTamborero LIP;LY;CANCER TRUE LEE011 (CDK4/6 inhibitor) Liposarcoma;Lymphoma;Any cancer type CDK6 amplification CDK6 CNA CDK6:amp Direct Clinical Trials CDK4/6 inhibitor LEE011 Responsive Early trials NCT02187783;NCT01237236;http://meetinglibrary.asco.org/content/83791-102 CRubio-Perez;DTamborero LIP;LY;CANCER TRUE LEE011 (CDK4/6 inhibitor) Liposarcoma;Lymphoma;Any cancer type CDKN1A oncogenic mutation CDKN1A MUT CDKN1A:. [CDK2/4 inhibitor] [] Responsive Pre-clinical PMID:22471707;PMID:22997239 RDientsmann CANCER TRUE CDK2/4 inhibitors Any cancer type CDKN1A deletion CDKN1A CNA CDKN1A:del [CDK2/4 inhibitor] [] Responsive Pre-clinical PMID:22471707;PMID:22997239 RDientsmann CANCER TRUE CDK2/4 inhibitors Any cancer type CDKN1B oncogenic mutation CDKN1B MUT CDKN1B:. [CDK2/4 inhibitor] [] Responsive Pre-clinical PMID:22471707 RDientsmann CANCER TRUE CDK2/4 inhibitors Any cancer type CDKN1B deletion CDKN1B CNA CDKN1B:del [CDK2/4 inhibitor] [] Responsive Pre-clinical PMID:22471707 RDientsmann CANCER TRUE CDK2/4 inhibitors Any cancer type CDKN2A oncogenic mutation CDKN2A MUT CDKN2A:. [CDK4/6 inhibitor] [] Responsive Case report ASCO 2013 (abstr 2500) RDientsmann CM TRUE CDK4/6 inhibitors Cutaneous melanoma CDKN2A oncogenic mutation CDKN2A MUT CDKN2A:. [CDK4/6 inhibitor] [] Responsive Pre-clinical PMID:22471707;PMID:22586120;PMID:22711607 RDientsmann G;CANCER TRUE CDK4/6 inhibitors Glioma;Any cancer type CDKN2A deletion CDKN2A CNA CDKN2A:del [CDK4/6 inhibitor] [] Responsive Case report ASCO 2013 (abstr 2500) RDientsmann CM TRUE CDK4/6 inhibitors Cutaneous melanoma CDKN2A deletion CDKN2A CNA CDKN2A:del [CDK4/6 inhibitor] [] Responsive Pre-clinical PMID:22471707;PMID:22586120;PMID:22711607 RDientsmann G;CANCER TRUE CDK4/6 inhibitors Glioma;Any cancer type CDKN2A oncogenic mutation CDKN2A MUT CDKN2A:. Indirect Clinical Trials AURKA-VEGF inhibitor Ilorasertib Responsive Early trials NCT02478320 CRubio-Perez;DTamborero CANCER TRUE Ilorasertib (AURKA-VEGF inhibitor) Any cancer type CDKN2A deletion CDKN2A CNA CDKN2A:del Indirect Clinical Trials AURKA-VEGF inhibitor Ilorasertib Responsive Early trials NCT02478320 CRubio-Perez;DTamborero CANCER TRUE Ilorasertib (AURKA-VEGF inhibitor) Any cancer type CDKN2B oncogenic mutation CDKN2B MUT CDKN2B:. [CDK4/6 inhibitor] [] Responsive Pre-clinical PMID:22471707;PMID:22711607 RDientsmann G;CANCER TRUE CDK4/6 inhibitors Glioma;Any cancer type CDKN2B deletion CDKN2B CNA CDKN2B:del [CDK4/6 inhibitor] [] Responsive Pre-clinical PMID:22471707;PMID:22711607 RDientsmann G;CANCER TRUE CDK4/6 inhibitors Glioma;Any cancer type CDKN2C oncogenic mutation CDKN2C MUT CDKN2C:. [CDK2 inhibitor] [] Responsive Pre-clinical PMID:22471707;PMID:22997239;PMID:22711607 RDientsmann G;CANCER TRUE CDK2 inhibitors Glioma;Any cancer type CDKN2C deletion CDKN2C CNA CDKN2C:del [CDK2 inhibitor] [] Responsive Pre-clinical PMID:22471707;PMID:22997239;PMID:22711607 RDientsmann G;CANCER TRUE CDK2 inhibitors Glioma;Any cancer type CHEK2 oncogenic mutation CHEK2 MUT CHEK2:. Approved PARP inhibitor Olaparib Responsive FDA guidelines PMID:26510020;AACR 2015 (abstr CT322);FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890 RDientsmann; RShadrina;SDemajo 07/22 PRAD TRUE Olaparib (PARP inhibitor) Prostate adenocarcinoma CHEK2 deletion CHEK2 CNA CHEK2:del PARP inhibitor Olaparib Responsive Early trials AACR 2015 (abstr CT322) RDientsmann PRAD TRUE Olaparib (PARP inhibitor) Prostate adenocarcinoma MAP2K1 (P124) MAP2K1 MUT MAP2K1:P124. [BRAF inhibitor] [] Resistant Early trials PMID:25370473 RDientsmann CM TRUE BRAF inhibitors Cutaneous melanoma MAP2K1 (Q56P,P124S,P124L;C121S) MAP2K1 MUT MAP2K1:Q56P,P124S,P124L,C121S [BRAF inhibitor] [] Resistant Case report PMID:19915144;PMID:21383288 RDientsmann;DTamborero 03/16 CM TRUE BRAF inhibitors Cutaneous melanoma MAP2K1 oncogenic mutation MAP2K1 MUT MAP2K1:. [EGFR mAb inhibitor] [] Resistant Case report PMID:26030179 RDientsmann COREAD TRUE EGFR mAb inhibitors Colorectal adenocarcinoma MAP2K1 (I99T,L115,G128D,F129L,V211D,L215P,I103N,K104N,I111N,H119P,E120D,F133L,P124,D67N) MAP2K1 MUT MAP2K1:I99T,L115.,G128D,F129L,V211D,L215P,I103N,K104N,I111N,H119P,E120D,F133L,P124.,D67N [MEK inhibitor] [] Resistant Pre-clinical PMID:19915144 RDientsmann CANCER TRUE Reference added by carlota MEK inhibitors Any cancer type MAP2K1 (P124L,K57N,C121S) MAP2K1 MUT MAP2K1:P124L,K57N,C121S [MEK inhibitor] [] Resistant Case report PMID:19915144;PMID:23444215;PMID:21383288 RDientsmann CM TRUE MEK inhibitors Cutaneous melanoma MAP2K1 (Q56P,P124S,P124L) MAP2K1 MUT MAP2K1:Q56P,P124S,P124L [MEK inhibitor] [] Resistant Case report PMID:19915144 DTamborero 03/16 CM TRUE MEK inhibitors Cutaneous melanoma CRLF2 fusion CRLF2 FUS CRLF2__. [BET inhibitor] [] Responsive Pre-clinical PMID:22904298 RDientsmann 01/16 ALL TRUE BET inhibitors Acute lymphoblastic leukemia CRLF2 fusion CRLF2 FUS CRLF2__. [MTOR inhibitor] [] Responsive Pre-clinical PMID:22955920 RDientsmann 01/16 ALL TRUE MTOR inhibitors Acute lymphoblastic leukemia CSF1R (Y571D) CSF1R MUT CSF1R:Y571D BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Responsive Pre-clinical PMID:18971950 RDientsmann MDPS TRUE Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Myelodisplasic proliferative syndrome CSF3R frameshift variant (D771),frameshift variant (S783) CSF3R MUT CSF3R::consequence::frameshift_variant:D771.,::frameshift_variant:S783. BCR-ABL inhibitor 2nd gen Dasatinib Responsive Pre-clinical PMID:23656643 RDientsmann 01/16 ACML TRUE Dasatinib (BCR-ABL inhibitor 2nd gen) Atypical chronic myeloid leukemia MAP2K2 (Q60P) MAP2K2 MUT MAP2K2:Q60P [BRAF inhibitor] [] Resistant Case report PMID:24265154 RDientsmann CM TRUE BRAF inhibitors Cutaneous melanoma CTNNB1 (H36Y,S37C,S37Y,D32V) CTNNB1 MUT CTNNB1:H36Y,S37C,S37Y,D32V MTOR inhibitor;Hormonal therapy Everolimus;Letrozole Responsive Early trials PMID:25624430 RDientsmann ED TRUE Everolimus + Letrozole (MTOR inhibitor + Hormonal therapy) Endometrium CYP17A1 expression CYP17A1 EXPR CYP17A1:norm Direct Approved AR inhibitor Abiraterone Responsive Early trials PMID:22184395 ARodriguez-Vida 09/15 PRAD PRAD TRUE Abiraterone (AR inhibitor) Prostate adenocarcinoma CYP17A1 expression CYP17A1 EXPR CYP17A1:norm Indirect Approved AR inhibitor Enzalutamide Responsive Early trials PMID:24882673 ARodriguez-Vida 09/15 PRAD PRAD TRUE Enzalutamide (AR inhibitor) Prostate adenocarcinoma MAP2K2 (V35M,L46F,N126D,C125S) MAP2K2 MUT MAP2K2:V35M,L46F,N126D,C125S [BRAF inhibitor] [] Resistant Pre-clinical PMID:24265153 RDientsmann CM TRUE BRAF inhibitors Cutaneous melanoma DDR2 (I638F,L239R,G253C,G774V,L63V,G505S) DDR2 MUT DDR2:I638F,L239R,G253C,G774V,L63V,G505S BCR-ABL inhibitor 2nd gen Dasatinib Responsive Pre-clinical PMID:22328973 RDientsmann LUSC TRUE Dasatinib (BCR-ABL inhibitor 2nd gen) Lung squamous cell DDR2 (S768R) DDR2 MUT DDR2:S768R BCR-ABL inhibitor 2nd gen Dasatinib Responsive Case report PMID:22328973 RDientsmann LUSC TRUE Dasatinib (BCR-ABL inhibitor 2nd gen) Lung squamous cell DDR2 (S768R) DDR2 MUT DDR2:S768R EGFR inhibitor 1st gen Erlotinib Responsive Case report PMID:22328973 RDientsmann LUSC TRUE Erlotinib (EGFR inhibitor 1st gen) Lung squamous cell DNMT3A oncogenic mutation DNMT3A MUT DNMT3A:. Approved Chemotherapy Daunorubicin Responsive FDA guidelines PMID:22417203 RDientsmann AML TRUE Daunorubicin (Chemotherapy) Acute myeloid leukemia DPYD splice donor variant DPYD MUT DPYD::consequence::splice_donor_variant:. Approved Fluoropyrimidine Capecitabine Increased Toxicity FDA guidelines FDA DTamborero;CRubio-Perez 01/16 CANCER TRUE Capecitabine (Fluoropyrimidine) Any cancer type DPYD biallelic inactivation DPYD BIA DPYD:. Approved Fluoropyrimidine Capecitabine Increased Toxicity FDA guidelines FDA DTamborero;CRubio-Perez 01/16 CANCER TRUE Capecitabine (Fluoropyrimidine) Any cancer type DPYD (I560S,D949V) DPYD MUT DPYD:I560S,D949V Approved Fluoropyrimidine Capecitabine Increased Toxicity FDA guidelines FDA DTamborero;CRubio-Perez 01/16 CANCER TRUE Capecitabine (Fluoropyrimidine) Any cancer type DPYD splice donor variant DPYD MUT DPYD::consequence::splice_donor_variant:. Approved Fluoropyrimidine Flourouracil Increased Toxicity FDA guidelines FDA DTamborero;CRubio-Perez 01/16 CANCER TRUE Flourouracil (Fluoropyrimidine) Any cancer type DPYD biallelic inactivation DPYD BIA DPYD:. Approved Fluoropyrimidine Flourouracil Increased Toxicity FDA guidelines FDA DTamborero;CRubio-Perez 01/16 CANCER TRUE Flourouracil (Fluoropyrimidine) Any cancer type DPYD (I560S,D949V) DPYD MUT DPYD:I560S,D949V Approved Fluoropyrimidine Flourouracil Increased Toxicity FDA guidelines FDA DTamborero;CRubio-Perez 01/16 CANCER TRUE Flourouracil (Fluoropyrimidine) Any cancer type DPYD splice donor variant DPYD MUT DPYD::consequence::splice_donor_variant:. Approved Fluoropyrimidine Tegafur Increased Toxicity CPIC guidelines PMID:23988873 DTamborero;CRubio-Perez 01/16 CANCER TRUE Tegafur (Fluoropyrimidine) Any cancer type DPYD biallelic inactivation DPYD BIA DPYD:. Approved Fluoropyrimidine Tegafur Increased Toxicity CPIC guidelines PMID:23988873 DTamborero;CRubio-Perez 01/16 CANCER TRUE Tegafur (Fluoropyrimidine) Any cancer type DPYD (I560S,D949V) DPYD MUT DPYD:I560S,D949V Approved Fluoropyrimidine Tegafur Increased Toxicity CPIC guidelines PMID:23988873 DTamborero;CRubio-Perez 01/16 CANCER TRUE Tegafur (Fluoropyrimidine) Any cancer type MAP2K2 (Q60P) MAP2K2 MUT MAP2K2:Q60P [MEK inhibitor] [] Resistant Case report PMID:24265154 RDientsmann CM TRUE MEK inhibitors Cutaneous melanoma MAP2K2 (V35M,L46F,N126D,C125S) MAP2K2 MUT MAP2K2:V35M,L46F,N126D,C125S [MEK inhibitor] [] Resistant Pre-clinical PMID:24265153 RDientsmann CM TRUE MEK inhibitors Cutaneous melanoma MCL1 amplification MCL1 CNA MCL1:amp [Tubulin inhibitor] [] Resistant Pre-clinical PMID:21368834 RDientsmann CANCER TRUE Tubulin inhibitors Any cancer type MET amplification MET CNA MET:amp [EGFR inhibitor 1st gen] [] Resistant Early trials PMID:22189054;PMID:23729478 DTamborero NSCLC;COREAD TRUE EGFR inhibitor 1st gens Non-small cell lung;Colorectal adenocarcinoma MET amplification MET CNA MET:amp [EGFR mAb inhibitor] [] Resistant Early trials PMID:23729478 RDientsmann COREAD TRUE EGFR mAb inhibitors Colorectal adenocarcinoma MET (D1246V) MET MUT MET:D1246V [MET inhibitor] [] Resistant Case report PMID:27694386 RDientsmann 07/17 LUAD TRUE MET inhibitors Lung adenocarcinoma MET amplification + EGFR oncogenic mutation MET;EGFR CNA;MUT MET:amp;EGFR:. [EGFR TK inhibitor] [] Resistant Early trials ASCO 2015 (abstr 8089) RDientsmann 01/16 LUAD TRUE EGFR TK inhibitors Lung adenocarcinoma MITF amplification MITF CNA MITF:amp [BRAF inhibitor] [] Resistant Case report PMID:24265153 RDientsmann 01/16 CM TRUE BRAF inhibitors Cutaneous melanoma MITF amplification MITF CNA MITF:amp [BRAF inhibitor] [] Resistant Case report PMID:24265153 RDientsmann CM TRUE BRAF inhibitors Cutaneous melanoma MYCN amplification MYCN CNA MYCN:amp [SMO inhibitor] [] Resistant Pre-clinical PMID:24951114 DTamborero;RDientsmann MB TRUE SMO inhibitors Medulloblastoma NF1 oncogenic mutation NF1 MUT NF1:. [Retinoic Acid] [] Resistant Pre-clinical PMID:20655465 RDientsmann 07/16 NB TRUE Retinoic Acids Neuroblastoma EGFR (T790M) EGFR MUT EGFR:T790M [EGFR inhibitor 3rd gen] [] Responsive Early trials ASCO 2014 (abstr 8009);ENA 2014 (abstr 10LBA);ENA 2014 (abstr 9LBA);ASCO 2015 (abstr 8001) RDientsmann 01/16 L TRUE EGFR inhibitor 3rd gens Lung EGFR amplification EGFR CNA EGFR:amp [EGFR inhibitor] [] Responsive Case report PMID:26763254 RDientsmann 07/16 HNSC TRUE EGFR inhibitors Head an neck squamous EGFR amplification EGFR CNA EGFR:amp [EGFR mAb inhibitor] [] Responsive Late trials PMID:18794099;PMID:17664472 RDientsmann COREAD TRUE EGFR mAb inhibitors Colorectal adenocarcinoma EGFR exon 19 insertions EGFR MUT EGFR::consequence::inframe_insertion:729-761 [EGFR TK inhibitor] [] Responsive Late trials PMID:22753918 RDientsmann 01/16 L TRUE EGFR TK inhibitors Lung EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) EGFR MUT EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R [EGFR TK inhibitor] [] Responsive Late trials PMID:22753918 RDientsmann 01/16 L TRUE EGFR TK inhibitors Lung EGFR exon 19 insertions EGFR MUT EGFR::consequence::inframe_insertion:729-761 [HSP90 inhibitor] [] Responsive Early trials ESMO 2012 (abstr 4380) RDientsmann 01/16 L TRUE HSP90 inhibitors Lung EGFR exon 20 insertions EGFR MUT EGFR::consequence::inframe_insertion:762-823 [HSP90 inhibitor] [] Responsive Case report ASCO 2014 (abstr 8015) RDientsmann 01/16 L TRUE HSP90 inhibitors Lung EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) EGFR MUT EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R [HSP90 inhibitor] [] Responsive Early trials ESMO 2012 (abstr 4380) RDientsmann 01/16 L TRUE HSP90 inhibitors Lung EGFR (T790M) EGFR MUT EGFR:T790M [HSP90 inhibitor] [] Responsive Early trials ESMO 2012 (abstr 4380) RDientsmann 01/16 L TRUE HSP90 inhibitors Lung EGFR exon 19 insertions EGFR MUT EGFR::consequence::inframe_insertion:729-761 [MEK inhibitor (alone or in combination)] [] Responsive Pre-clinical PMID:23102728 RDientsmann 01/16 L TRUE MEK inhibitor (alone or in combination)s Lung EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R,T790M) EGFR MUT EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R,T790M [MEK inhibitor (alone or in combination)] [] Responsive Pre-clinical PMID:23102728 RDientsmann 01/16 L TRUE MEK inhibitor (alone or in combination)s Lung EGFR (S492R) EGFR MUT EGFR:S492R [novel EGFR mAb inhibitor] [] Responsive Early trials PMID:25962717 RDientsmann 01/16 COREAD TRUE novel EGFR mAb inhibitors Colorectal adenocarcinoma EGFR (T790M) EGFR MUT EGFR:T790M [EGFR inhibitor 3rd gen] [Rociletinib,HM61713] Responsive Late trials NCT02322281 CRubio-Perez;RDientsmann 01/16 NSCLC TRUE EGFR inhibitor 3rd gens (Rociletinib,HM61713,etc) Non-small cell lung EGFR exon 19 deletions EGFR MUT EGFR::consequence::inframe_deletion:729-761 Approved ERBB2 inhibitor&EGFR inhibitor 2nd gen Afatinib Responsive FDA guidelines FDA RDientsmann NSCLC TRUE Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen) Non-small cell lung EGFR exon 19 insertions EGFR MUT EGFR::consequence::inframe_insertion:729-761 ERBB2 inhibitor&EGFR inhibitor 2nd gen Afatinib Responsive Late trials PMID:22753918;PMID:25589191 RDientsmann 01/16 L TRUE Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen) Lung EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) EGFR MUT EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R Approved ERBB2 inhibitor&EGFR inhibitor 2nd gen Afatinib Responsive FDA guidelines FDA RDientsmann NSCLC TRUE Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen) Non-small cell lung EGFR (L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) EGFR MUT EGFR:L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R Approved ERBB2 inhibitor&EGFR inhibitor 2nd gen Afatinib Responsive NCCN guidelines FDA RDientsmann NSCLC TRUE Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen) Non-small cell lung NF1 deletion NF1 CNA NF1:del [Retinoic Acid] [] Resistant Pre-clinical PMID:20655465 RDientsmann 07/16 NB TRUE Retinoic Acids Neuroblastoma EGFR exon 19 insertions EGFR MUT EGFR::consequence::inframe_insertion:729-761 ERBB2 inhibitor&EGFR inhibitor 2nd gen;EGFR mAb inhibitor Afatinib;Cetuximab Responsive Early trials ESMO 2012 (abstr 1289) RDientsmann 01/16 L TRUE Afatinib + Cetuximab (ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor) Lung EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) EGFR MUT EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R ERBB2 inhibitor&EGFR inhibitor 2nd gen;EGFR mAb inhibitor Afatinib;Cetuximab Responsive Early trials ESMO 2012 (abstr 1289) RDientsmann 01/16 L TRUE Afatinib + Cetuximab (ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor) Lung EGFR (T790M) EGFR MUT EGFR:T790M ERBB2 inhibitor&EGFR inhibitor 2nd gen;EGFR mAb inhibitor Afatinib;Cetuximab Responsive Early trials PMID:25074459 RDientsmann 01/16 L TRUE Afatinib + Cetuximab (ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor) Lung EGFR (T790M) EGFR MUT EGFR:T790M ERBB2 inhibitor&EGFR inhibitor 2nd gen;EGFR mAb inhibitor Afatinib;Nimotuzumab Responsive Early trials PMID:26667485 RDientsmann 06/16 L TRUE Afatinib + Nimotuzumab (ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor) Lung EGFR overexpression EGFR EXPR EGFR:over Approved EGFR mAb inhibitor Cetuximab Responsive FDA guidelines FDA CRubio-Perez COREAD TRUE Cetuximab (EGFR mAb inhibitor) Colorectal adenocarcinoma EGFR (P546S) EGFR MUT EGFR:P546S EGFR mAb inhibitor Cetuximab Responsive Case report PMID:23578570 RDientsmann 01/16 HNC TRUE Cetuximab (EGFR mAb inhibitor) Head an neck EGFR (P753S) EGFR MUT EGFR:P753S EGFR mAb inhibitor;MTOR inhibitor Cetuximab;Sirolimus Responsive Case report PMID:24934779 RDientsmann 01/16 HNC TRUE Cetuximab + Sirolimus (EGFR mAb inhibitor + MTOR inhibitor) Head an neck EGFR-RAD51 fusion EGFR FUS EGFR__RAD51 Approved EGFR inhibitor 1st gen Erlotinib Responsive Case report PMID:27102076 EArriola 06/16 NSCLC TRUE Erlotinib (EGFR inhibitor 1st gen) Non-small cell lung EGFR-RAD51 fusion EGFR FUS EGFR__RAD51 EGFR inhibitor 1st gen Erlotinib Responsive Case report PMID:27102076 RDientsmann 07/16 L TRUE Erlotinib (EGFR inhibitor 1st gen) Lung EGFR exon 19 deletions EGFR MUT EGFR::consequence::inframe_deletion:729-761 Approved EGFR inhibitor 1st gen Erlotinib Responsive FDA guidelines FDA RDientsmann NSCLC TRUE exon 19 deletions Erlotinib (EGFR inhibitor 1st gen) Non-small cell lung EGFR exon 19 insertions EGFR MUT EGFR::consequence::inframe_insertion:729-761 Approved EGFR inhibitor 1st gen Erlotinib Responsive Early trials PMID:22190593 RDientsmann L TRUE Erlotinib (EGFR inhibitor 1st gen) Lung EGFR inframe insertion (769-770) EGFR MUT EGFR::consequence::inframe_insertion:769-770 EGFR inhibitor 1st gen Erlotinib Responsive Case report PMID:26773740;PMID:23328547 RDientsmann 12/16 L TRUE Erlotinib (EGFR inhibitor 1st gen) Lung EGFR (A289V,R108K,G598V,T263P) EGFR MUT EGFR:A289V,R108K,G598V,T263P Approved EGFR inhibitor 1st gen Erlotinib Responsive Pre-clinical PMID:17177598 RDientsmann G TRUE Erlotinib (EGFR inhibitor 1st gen) Glioma NRAS (Q61) NRAS MUT NRAS:Q61. [BRAF inhibitor] [] Resistant Early trials PMID:23569304;PMID:24265153 RDientsmann 01/16 CM TRUE BRAF inhibitors Cutaneous melanoma EGFR (K757R,E746G) EGFR MUT EGFR:K757R,E746G EGFR inhibitor 1st gen Erlotinib Responsive Case report PMID:26773740 RDientsmann 12/16 L TRUE Erlotinib (EGFR inhibitor 1st gen) Lung EGFR (L858R) EGFR MUT EGFR:L858R Approved EGFR inhibitor 1st gen Erlotinib Responsive FDA guidelines FDA RDientsmann NSCLC TRUE Erlotinib (EGFR inhibitor 1st gen) Non-small cell lung EGFR (L858R,L861,G719,S768I) EGFR MUT EGFR:L858R,L861.,G719.,S768I Approved EGFR inhibitor 1st gen Erlotinib Responsive NCCN guidelines NCCN RDientsmann NSCLC TRUE Erlotinib (EGFR inhibitor 1st gen) Non-small cell lung PDGFRA amplification PDGFRA CNA PDGFRA:amp [PDGFR inhibitor] [] No Responsive Pre-clinical PMID:23544171 RDientsmann G TRUE PDGFR inhibitors Glioma PIK3CA (E545*) PIK3CA MUT PIK3CA:E545* [BRAF inhibitor] [] Resistant Case report PMC3936420 DTamborero 03/16 CM TRUE BRAF inhibitors Cutaneous melanoma EGFR exon 19 deletions EGFR MUT EGFR::consequence::inframe_deletion:729-761 Approved EGFR inhibitor 1st gen Gefitinib Responsive FDA guidelines FDA RDientsmann NSCLC TRUE Gefitinib (EGFR inhibitor 1st gen) Non-small cell lung PIK3CA amplification PIK3CA CNA PIK3CA:amp [PI3K pathway inhibitor] [] Resistant Pre-clinical PMID:24366379 RDientsmann BRCA TRUE PI3K pathway inhibitors Breast adenocarcinoma PIK3CA oncogenic mutation PIK3CA MUT PIK3CA:. [PI3K pathway inhibitor] [] No Responsive Early trials ASCO 2017 (abstr 9054) RDientsmann 07/17 L TRUE PI3K pathway inhibitors Lung EGFR amplification EGFR CNA EGFR:amp Approved EGFR inhibitor 1st gen Gefitinib Responsive Late trials PMID:24950987 RDientsmann ED TRUE Gefitinib (EGFR inhibitor 1st gen) Endometrium EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) EGFR MUT EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R Approved EGFR inhibitor 1st gen Gefitinib Responsive FDA guidelines FDA RDientsmann NSCLC TRUE Gefitinib (EGFR inhibitor 1st gen) Non-small cell lung EGFR (L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) EGFR MUT EGFR:L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R Approved EGFR inhibitor 1st gen Gefitinib Responsive NCCN guidelines FDA RDientsmann NSCLC TRUE Gefitinib (EGFR inhibitor 1st gen) Non-small cell lung PIK3CB (D1067Y) PIK3CB MUT PIK3CB:D1067Y [PI3K pathway inhibitor] [] Resistant Case report PMID:26759240 RDientsmann 04/16 BRCA TRUE PI3K pathway inhibitors Breast adenocarcinoma EGFR (E690K) EGFR MUT EGFR:E690K Approved ERBB2 inhibitor Lapatinib Responsive Case report PMID:22885469 RDientsmann ED TRUE Lapatinib (ERBB2 inhibitor) Endometrium EGFR exon 19 deletions EGFR MUT EGFR::consequence::inframe_deletion:729-761 Approved EGFR inhibitor 3rd gen Osimertinib Responsive Early trials NCT02465060 CRubio-Perez 01/16 L TRUE Osimertinib (EGFR inhibitor 3rd gen) Lung EGFR exon 20 insertions EGFR MUT EGFR::consequence::inframe_insertion:762-823 Approved EGFR inhibitor 3rd gen Osimertinib Responsive NCCN guidelines PMID:26515464 RDientsmann 12/16 L TRUE Insertion exon 20 Osimertinib (EGFR inhibitor 3rd gen) Lung PTEN oncogenic mutation PTEN MUT PTEN:. [EGFR mAb inhibitor] [] Resistant Late trials PMID:21163703;PMID:19398573 RDientsmann COREAD TRUE EGFR mAb inhibitors Colorectal adenocarcinoma PTEN deletion PTEN CNA PTEN:del [EGFR mAb inhibitor] [] Resistant Late trials PMID:21163703;PMID:19398573 RDientsmann COREAD TRUE EGFR mAb inhibitors Colorectal adenocarcinoma PTEN oncogenic mutation PTEN MUT PTEN:. [MTOR inhibitor] [] No Responsive Early trials PMID:21788564;PMID:23238879 RDientsmann 01/16 ED TRUE MTOR inhibitors Endometrium EGFR (L858R) EGFR MUT EGFR:L858R Approved EGFR inhibitor 3rd gen Osimertinib Responsive NCCN guidelines NCCN Non-Small Cell Lung Cancer 2022;PMID:30659024 CRubio-Perez;RShadrina;SDemajo 01/16 NSCLC TRUE Osimertinib (EGFR inhibitor 3rd gen) Non-Small Cell Lung Cancer EGFR (T790M) EGFR MUT EGFR:T790M Approved EGFR inhibitor 3rd gen Osimertinib Responsive FDA guidelines FDA RDientsmann 01/16 NSCLC TRUE Osimertinib (EGFR inhibitor 3rd gen) Non-small cell lung PTEN deletion PTEN CNA PTEN:del [MTOR inhibitor] [] No Responsive Early trials PMID:21788564;PMID:23238879 RDientsmann 01/16 ED TRUE MTOR inhibitors Endometrium PTEN oncogenic mutation + BRAF oncogenic mutation PTEN;BRAF MUT;MUT PTEN:.;BRAF:. [BRAF inhibitor] [] Resistant Early trials http://ascopubs.org/doi/abs/10.1200/PO.16.00054 RDientsmann 07/17 CM TRUE BRAF inhibitors Cutaneous melanoma EGFR (S492R) EGFR MUT EGFR:S492R EGFR mAb inhibitor Panitumumab Responsive Case report PMID:22270724 RDientsmann 01/16 COREAD TRUE Panitumumab (EGFR mAb inhibitor) Colorectal adenocarcinoma EGFR inframe deletion (6-273) EGFR MUT EGFR::consequence::inframe_deletion:6-273 Indirect Clinical Trials Vaccine Rindopepimut Responsive Late trials NCT01480479 MMartínez 09/15 GB TRUE he EGFRvIII variant receptor is characterized by a deletion of exons 2–7 of the wild type (Wt) EGFR gene. This results in an in-frame truncation of amino acids (AA) 6 to 273 in the extracellular domain of the full length protein, Rindopepimut (Vaccine) Glioblastoma PTEN deletion + BRAF oncogenic mutation PTEN;BRAF CNA;MUT PTEN:del;BRAF:. [BRAF inhibitor] [] Resistant Early trials http://ascopubs.org/doi/abs/10.1200/PO.16.00054 RDientsmann 07/17 CM TRUE BRAF inhibitors Cutaneous melanoma EPHA2 (G391R) EPHA2 MUT EPHA2:G391R [MTOR inhibitor] [] Responsive Pre-clinical PMID:20360610 RDientsmann 01/16 LUSC TRUE MTOR inhibitors Lung squamous cell EPHA2 (G391R) EPHA2 MUT EPHA2:G391R [MTOR inhibitor] [] Responsive Pre-clinical PMID:20360610 RDientsmann LUSC TRUE MTOR inhibitors Lung squamous cell EPHA2 amplification EPHA2 CNA EPHA2:amp BCR-ABL inhibitor 2nd gen Dasatinib Responsive Pre-clinical PMID:18047674;PMID:19010823;PMID:19861960 RDientsmann 01/16 CANCER TRUE Dasatinib (BCR-ABL inhibitor 2nd gen) Any cancer type EPHA2 amplification EPHA2 CNA EPHA2:amp BCR-ABL inhibitor 2nd gen Dasatinib Responsive Pre-clinical PMID:18047674;PMID:19010823;PMID:19861960 RDientsmann CANCER TRUE Dasatinib (BCR-ABL inhibitor 2nd gen) Any cancer type EPHA2 (G391R) EPHA2 MUT EPHA2:G391R BCR-ABL inhibitor 2nd gen Dasatinib Responsive Pre-clinical PMID:20360610 RDientsmann 01/16 LUSC TRUE Dasatinib (BCR-ABL inhibitor 2nd gen) Lung squamous cell EPHA2 (G391R) EPHA2 MUT EPHA2:G391R BCR-ABL inhibitor 2nd gen Dasatinib Responsive Pre-clinical PMID:20360610 RDientsmann LUSC TRUE Dasatinib (BCR-ABL inhibitor 2nd gen) Lung squamous cell EPHA3 amplification EPHA3 CNA EPHA3:amp [EPHA3 inhibitor] [] Responsive Pre-clinical PMID:25125683 RDientsmann 01/16 CANCER TRUE EPHA3 inhibitors Any cancer type EPHA3 amplification EPHA3 CNA EPHA3:amp [EPHA3 inhibitor] [] Responsive Pre-clinical PMID:25125683 RDientsmann CANCER TRUE EPHA3 inhibitors Any cancer type PTEN oncogenic mutation + BRAF oncogenic mutation PTEN;BRAF MUT;MUT PTEN:.;BRAF:. [MEK inhibitor] [] Resistant Pre-clinical PMID:23039341 RDientsmann 01/16 CM TRUE MEK inhibitors Cutaneous melanoma PTEN deletion + BRAF oncogenic mutation PTEN;BRAF CNA;MUT PTEN:del;BRAF:. [MEK inhibitor] [] Resistant Pre-clinical PMID:23039341 RDientsmann 01/16 CM TRUE MEK inhibitors Cutaneous melanoma ERBB2 amplification ERBB2 CNA ERBB2:amp [ERBB2 inhibitor;CDK4/6 inhibitor] [] Responsive Pre-clinical PMID:26977878 RDientsmann 04/16 BRCA TRUE ERBB2 inhibitor + CDK4/6 inhibitors Breast adenocarcinoma ERBB2 proximal exon 20 ERBB2 MUT ERBB2::consequence::inframe_insertion:775-881 [ERBB2 inhibitor] [Afatinib,Lapatinib,Neratinib] Responsive Early trials PMID:26598547 RDientsmann LUAD TRUE ERBB2 inhibitors (Afatinib,Lapatinib,Neratinib,etc) Lung adenocarcinoma ERBB2 proximal exon 20 ERBB2 MUT ERBB2::consequence::inframe_insertion:775-881 [ERBB2 mAb inhibitor] [Trastuzumab] Responsive Early trials PMID:26598547 RDientsmann LUAD TRUE ERBB2 mAb inhibitors (Trastuzumab,etc) Lung adenocarcinoma ERBB2 amplification ERBB2 CNA ERBB2:amp EGFR mAb inhibitor Ado-Trastuzumab Emtansine Responsive FDA guidelines FDA RDientsmann 04/16 BRCA TRUE Ado-Trastuzumab Emtansine (EGFR mAb inhibitor) Breast adenocarcinoma ERBB2 overexpression ERBB2 EXPR ERBB2:over Approved ERBB2 mAb inhibitor Ado-Trastuzumab Emtansine Responsive FDA guidelines FDA CRubio-Perez BRCA TRUE Ado-Trastuzumab Emtansine (ERBB2 mAb inhibitor) Breast adenocarcinoma ERBB2 inframe insertion (A775YVMA),inframe insertion (G776VC) ERBB2 MUT ERBB2::consequence::inframe_insertion:A775YVMA,::inframe_insertion:G776VC ERBB2 mAb inhibitor Ado-Trastuzumab Emtansine Responsive Early trials ASCO 2017 (abstr 8510) RDientsmann 07/17 L TRUE Ado-Trastuzumab Emtansine (ERBB2 mAb inhibitor) Lung ERBB2 (V659E,S310F) ERBB2 MUT ERBB2:V659E,S310F ERBB2 mAb inhibitor Ado-Trastuzumab Emtansine Responsive Early trials ASCO 2017 (abstr 8510) RDientsmann 07/17 L TRUE Ado-Trastuzumab Emtansine (ERBB2 mAb inhibitor) Lung ERBB2 amplification ERBB2 CNA ERBB2:amp ERBB2&EGFR inhibitor 2nd gen Afatinib Responsive Case report AACR 2014 (abstr CT228) RDientsmann 01/16 ST TRUE Afatinib (ERBB2&EGFR inhibitor 2nd gen) Stomach ERBB2 amplification ERBB2 CNA ERBB2:amp ERBB2&EGFR inhibitor 2nd gen Afatinib Responsive Late trials PMID:20142587;PMID:22418700;PMID:23632474 RDientsmann 04/16 BRCA TRUE Afatinib (ERBB2&EGFR inhibitor 2nd gen) Breast adenocarcinoma ERBB2 amplification ERBB2 CNA ERBB2:amp ERBB2&EGFR inhibitor 2nd gen Afatinib Responsive Case report PMID:27044931 RDientsmann 07/16 BLCA TRUE Afatinib (ERBB2&EGFR inhibitor 2nd gen) Bladder ERBB2 proximal exon 20 ERBB2 MUT ERBB2::consequence::inframe_insertion:775-881 ERBB2&EGFR inhibitor 2nd gen Afatinib Responsive Early trials PMID:26598547;ASCO 2017 (abstr 9071) RDientsmann 07/17 LUAD TRUE Afatinib (ERBB2&EGFR inhibitor 2nd gen) Lung adenocarcinoma ERBB2 (T798I) ERBB2 MUT ERBB2:T798I ERBB2&EGFR inhibitor 2nd gen Afatinib Responsive Pre-clinical PMID:28274957 RDientsmann 07/17 BRCA TRUE Afatinib (ERBB2&EGFR inhibitor 2nd gen) Breast adenocarcinoma ERBB2 oncogenic mutation ERBB2 MUT ERBB2:. Pan ERBB inhibitor Dacomitinib Responsive Early trials PMID:25899785 EArriola 06/16 NSCLC TRUE Dacomitinib (Pan ERBB inhibitor) Non-small cell lung ERBB2 amplification ERBB2 CNA ERBB2:amp ERBB2 inhibitor;Chemotherapy Lapatinib;Capecitabine Responsive FDA guidelines FDA:https://www.accessdata.fda.gov/drugsatfda_docs/label/2018/022059s023lbl.pdf;PMID:17192538 RDientsmann;CRubio-Perez;SDemajo 04/16 BRCA TRUE For the treatment of patients with advanced or metastatic breast cancer whose tumors overexpress human epidermal growth factor receptor 2 (HER2) and who have received prior therapy including an anthracycline, a taxane, and trastuzumab. Lapatinib (ERBB2 inhibitor);Capecitabine (Chemotherapy) Breast adenocarcinoma ERBB2 amplification ERBB2 CNA ERBB2:amp ERBB2 inhibitor Lapatinib Responsive Early trials PMID:26022204 RDientsmann 07/17 BT TRUE Lapatinib (ERBB2 inhibitor) Billiary tract ERBB2 (D769Y,D769H,R896C,V777L,V842I,G309A) ERBB2 MUT ERBB2:D769Y,D769H,R896C,V777L,V842I,G309A ERBB2 inhibitor Lapatinib Responsive Pre-clinical PMID:23220880 RDientsmann BRCA TRUE Lapatinib (ERBB2 inhibitor) Breast adenocarcinoma RAC1 (P29S) + BRAF oncogenic mutation RAC1;BRAF MUT;MUT RAC1:P29S;BRAF:. [BRAF inhibitor] [] Resistant Case report PMID:25056119 RDientsmann 01/16 CM TRUE BRAF inhibitors Cutaneous melanoma ERBB2 overexpression ERBB2 EXPR ERBB2:over Approved ERBB2 inhibitor;Chemotherapy Lapatinib;Capecitabine Responsive FDA guidelines FDA:https://www.accessdata.fda.gov/drugsatfda_docs/label/2018/022059s023lbl.pdf;PMID:17192538 CRubio-Perez;SDemajo BRCA TRUE For the treatment of patients with advanced or metastatic breast cancer whose tumors overexpress human epidermal growth factor receptor 2 (HER2) and who have received prior therapy including an anthracycline, a taxane, and trastuzumab. Lapatinib (ERBB2 inhibitor);Capecitabine (Chemotherapy) Breast adenocarcinoma ERBB2 (V659E) ERBB2 MUT ERBB2:V659E ERBB2 inhibitor Lapatinib Responsive Case report PMID:23950206 RDientsmann BRCA;LUAD TRUE Lapatinib (ERBB2 inhibitor) Breast adenocarcinoma;Lung adenocarcinoma ERBB2 proximal exon 20 ERBB2 MUT ERBB2::consequence::inframe_insertion:775-881 ERBB2 inhibitor Lapatinib Responsive Early trials PMID:26598547;ASCO 2017 (abstr 9071) RDientsmann 07/17 LUAD TRUE Lapatinib (ERBB2 inhibitor) Lung adenocarcinoma ERBB2 amplification ERBB2 CNA ERBB2:amp ERBB2 inhibitor;Chemotherapy Lapatinib;Chemotherapy Responsive Early trials PMID:25694417;NCT02015169 RDientsmann 01/16 ST TRUE Lapatinib + Chemotherapy (ERBB2 inhibitor + Chemotherapy) Stomach ERBB2 overexpression ERBB2 EXPR ERBB2:over Allosteric AKT inhibitor;ERBB2 mAb inhibitor MK2206;Trastuzumab Responsive Early trials ASCO 2013 (abstr 2605);PMID:26104654 DCasadevall SOLID TRUE MK2206 + Trastuzumab (Allosteric AKT inhibitor + ERBB2 mAb inhibitor) Solid tumors ERBB2 inframe deletion (755-759),inframe insertion (780GSP),inframe insertion (781GSP) ERBB2 MUT ERBB2::consequence::inframe_deletion:755-759,::inframe_insertion:.780GSP,::inframe_insertion:.781GSP ERBB2 inhibitor Neratinib Responsive Pre-clinical PMID:23220880 RDientsmann BRCA TRUE Neratinib (ERBB2 inhibitor) Breast adenocarcinoma ERBB2 oncogenic mutation ERBB2 MUT ERBB2:. ERBB2 inhibitor Neratinib Responsive Early trials ESMO 2014 (abstr LBA39_PR) RDientsmann LUAD TRUE Neratinib (ERBB2 inhibitor) Lung adenocarcinoma ERBB2 amplification ERBB2 CNA ERBB2:amp ERBB2 inhibitor Neratinib Responsive Late trials PMID:20142587;PMID:22418700;PMID:23632474 RDientsmann 04/16 BRCA TRUE Neratinib (ERBB2 inhibitor) Breast adenocarcinoma ERBB2 (K753E) ERBB2 MUT ERBB2:K753E ERBB2 inhibitor Neratinib Responsive Pre-clinical PMID:27697991 RDientsmann 12/16 BRCA TRUE Neratinib (ERBB2 inhibitor) Breast adenocarcinoma ERBB2 (L755S,G309A,D769Y,D769H,R896C,V777L,V842I) ERBB2 MUT ERBB2:L755S,G309A,D769Y,D769H,R896C,V777L,V842I ERBB2 inhibitor Neratinib Responsive Pre-clinical PMID:23220880 RDientsmann BRCA TRUE Neratinib (ERBB2 inhibitor) Breast adenocarcinoma ERBB2 proximal exon 20 ERBB2 MUT ERBB2::consequence::inframe_insertion:775-881 ERBB2 inhibitor Neratinib Responsive Early trials PMID:26598547;ASCO 2017 (abstr 9071) RDientsmann 07/17 LUAD TRUE Neratinib (ERBB2 inhibitor) Lung adenocarcinoma ERBB2 (L869R) ERBB2 MUT ERBB2:L869R ERBB2 inhibitor Neratinib Responsive Case report PMID:28274957 RDientsmann 07/17 BRCA TRUE Neratinib (ERBB2 inhibitor) Breast adenocarcinoma ERBB2 (S310,L755,V777) ERBB2 MUT ERBB2:S310.,L755.,V777. ERBB2 inhibitor Neratinib Responsive Early trials AACR 2017 (abstr CT001) RDientsmann 07/17 CANCER TRUE Neratinib (ERBB2 inhibitor) Any cancer type ERBB2 inframe insertion (P780GSP),inframe insertion (781GSP),inframe insertion (A775YVMA),inframe insertion (G776YVMA) ERBB2 MUT ERBB2::consequence::inframe_insertion:P780GSP,::inframe_insertion:.781GSP,::inframe_insertion:A775YVMA,::inframe_insertion:G776YVMA ERBB2 inhibitor Neratinib Responsive Early trials AACR 2017 (abstr CT001) RDientsmann 07/17 CANCER TRUE Neratinib (ERBB2 inhibitor) Any cancer type RAC1 (P29S) + BRAF oncogenic mutation RAC1;BRAF MUT;MUT RAC1:P29S;BRAF:. [BRAF inhibitor] [] Resistant Case report PMID:25056119 RDientsmann CM TRUE BRAF inhibitors Cutaneous melanoma RAF1 (S257P,G361A,P261P) + BRAF oncogenic mutation RAF1;BRAF MUT;MUT RAF1:S257P,G361A,P261P;BRAF:. [BRAF inhibitor] [] Resistant Pre-clinical PMID:23737487 RDientsmann CM TRUE BRAF inhibitors Cutaneous melanoma ERBB2 amplification ERBB2 CNA ERBB2:amp ERBB2 mAb inhibitor Pertuzumab Responsive Early trials PMID:24960402 RDientsmann 01/16 ST TRUE Pertuzumab (ERBB2 mAb inhibitor) Stomach ERBB2 amplification ERBB2 CNA ERBB2:amp ERBB2 mAb inhibitor Pertuzumab Responsive FDA guidelines FDA RDientsmann;CRubio-Perez 04/16 BRCA TRUE Pertuzumab (ERBB2 mAb inhibitor) Breast adenocarcinoma ERBB2 amplification ERBB2 CNA ERBB2:amp ERBB2 mAb inhibitor Pertuzumab Responsive Early trials PMID:26022204 RDientsmann 07/17 BT TRUE Pertuzumab (ERBB2 mAb inhibitor) Billiary tract ERBB2 overexpression ERBB2 EXPR ERBB2:over Approved ERBB2 mAb inhibitor Pertuzumab Responsive FDA guidelines FDA CRubio-Perez BRCA TRUE Pertuzumab (ERBB2 mAb inhibitor) Breast adenocarcinoma ERBB2 oncogenic mutation ERBB2 MUT ERBB2:. MTOR inhibitor Tensirolimus Responsive Early trials ESMO 2014 (abstr LBA39_PR) RDientsmann LUAD TRUE Tensirolimus (MTOR inhibitor) Lung adenocarcinoma ERBB2 amplification ERBB2 CNA ERBB2:amp ERBB2 mAb inhibitor Trastuzumab Responsive FDA guidelines FDA CRubio-Perez 04/16 ST;GEJA TRUE Trastuzumab (ERBB2 mAb inhibitor) Stomach;Gastroesophageal junction adenocarcinoma ERBB2 amplification ERBB2 CNA ERBB2:amp ERBB2 mAb inhibitor Trastuzumab Responsive FDA guidelines FDA RDientsmann;CRubio-Perez 04/16 BRCA TRUE In combination with adjuvant chemotherapy Trastuzumab (ERBB2 mAb inhibitor) Breast adenocarcinoma ERBB2 amplification ERBB2 CNA ERBB2:amp ERBB2 mAb inhibitor Trastuzumab Responsive Early trials PMID:26022204 RDientsmann 07/17 BT TRUE Trastuzumab (ERBB2 mAb inhibitor) Billiary tract STK11 oncogenic mutation STK11 MUT STK11:. [BET inhibitor] [] Resistant Pre-clinical PMID:23129625;PMID:24045185 RDientsmann 04/16 L TRUE BET inhibitors Lung ERBB2 amplification ERBB2 CNA ERBB2:amp ERBB2 mAb inhibitor Trastuzumab Responsive Case report PMID:21380780 RDientsmann HNC TRUE Trastuzumab (ERBB2 mAb inhibitor) Head an neck ERBB2 amplification ERBB2 CNA ERBB2:amp ERBB2 mAb inhibitor Trastuzumab Responsive Early trials PMID:20003286;PMID:12525520 RDientsmann OV TRUE Trastuzumab (ERBB2 mAb inhibitor) Ovary ERBB2 (D769Y,D769H,R896C,G309E,S310F,S310Y,C311R) ERBB2 MUT ERBB2:D769Y,D769H,R896C,G309E,S310F,S310Y,C311R ERBB2 mAb inhibitor Trastuzumab Responsive Pre-clinical PMID:23220880;PMID:22908275 RDientsmann BRCA;CANCER TRUE Trastuzumab (ERBB2 mAb inhibitor) Breast adenocarcinoma;Any cancer type ERBB2 (G309E,S310F,S310Y,C311R,E321G,C334S) ERBB2 MUT ERBB2:G309E,S310F,S310Y,C311R,E321G,C334S ERBB2 mAb inhibitor Trastuzumab Responsive Pre-clinical PMID:22908275 RDientsmann CANCER TRUE Trastuzumab (ERBB2 mAb inhibitor) Any cancer type ERBB2 (G776L) ERBB2 MUT ERBB2:G776L ERBB2 mAb inhibitor Trastuzumab Responsive Case report PMID:16775247 RDientsmann LUAD TRUE Trastuzumab (ERBB2 mAb inhibitor) Lung adenocarcinoma ERBB2 overexpression ERBB2 EXPR ERBB2:over Approved ERBB2 mAb inhibitor Trastuzumab Responsive FDA guidelines FDA CRubio-Perez BRCA TRUE In combination with adjuvant chemotherapy Trastuzumab (ERBB2 mAb inhibitor) Breast adenocarcinoma ERBB2 overexpression ERBB2 EXPR ERBB2:over Approved ERBB2 mAb inhibitor Trastuzumab Responsive FDA guidelines FDA CRubio-Perez ST;GEJA TRUE Trastuzumab (ERBB2 mAb inhibitor) Stomach;Gastroesophageal junction adenocarcinoma ERBB2 proximal exon 20 ERBB2 MUT ERBB2::consequence::inframe_insertion:775-881 ERBB2 mAb inhibitor Trastuzumab Responsive Early trials PMID:26598547;ASCO 2017 (abstr 9071) RDientsmann 07/17 LUAD TRUE Trastuzumab (ERBB2 mAb inhibitor) Lung adenocarcinoma ERBB2 amplification ERBB2 CNA ERBB2:amp ERBB2 mAb inhibitor Ado-Trastuzumab Emtansine Responsive Case report http://ascopubs.org/doi/full/10.1200/PO.16.00055 RDientsmann 07/17 COREAD TRUE Ado-Trastuzumab Emtansine (ERBB2 mAb inhibitor) Colorectal adenocarcinoma ERBB2 amplification ERBB2 CNA ERBB2:amp ERBB2 mAb inhibitor;MTOR inhibitor;Chemotherapy Trastuzumab;Everolimus;Chemotherapy Responsive Early trials PMID:21107682;PMID:20975068 RDientsmann 04/16 BRCA TRUE Trastuzumab + Everolimus + Chemotherapy (ERBB2 mAb inhibitor + MTOR inhibitor + Chemotherapy) Breast adenocarcinoma ERBB2 amplification ERBB2 CNA ERBB2:amp ERBB2 mAb inhibitor;HSP90 inhibitor Trastuzumab;HSP90 inhibitor Responsive Early trials PMID:21558407 RDientsmann 04/16 BRCA TRUE Trastuzumab + HSP90 inhibitor (ERBB2 mAb inhibitor + HSP90 inhibitor) Breast adenocarcinoma ERBB2 amplification ERBB2 CNA ERBB2:amp ERBB2 mAb inhibitor;ERBB2 inhibitor Trastuzumab;Lapatinib Responsive Late trials ASCO 2015 (abstr 3508);NCT01104571;EBCC10 RDientsmann 01/16 COREAD TRUE Trastuzumab + Lapatinib (ERBB2 mAb inhibitor + ERBB2 inhibitor) Colorectal adenocarcinoma ERBB2 amplification ERBB2 CNA ERBB2:amp ERBB2 mAb inhibitor;ERBB2 inhibitor Trastuzumab;Lapatinib Responsive Pre-clinical PMID:25294905 RDientsmann 01/16 ED TRUE Trastuzumab + Lapatinib (ERBB2 mAb inhibitor + ERBB2 inhibitor) Endometrium ERBB2 expression + ESR1 overexpression ERBB2;ESR1 EXPR;EXPR ERBB2:norm;ESR1:over Approved [Hormonal therapy] [Tamoxifen,Letrozole,Anastrozole,Exemestane,Fulvestrant,LHRH analogues or antagonist] Responsive FDA guidelines FDA JAlbanell;ARovira 09/15 BRCA TRUE Hormonal therapys (Tamoxifen,Letrozole,Anastrozole,Exemestane,Fulvestrant,LHRH analogues or antagonist,etc) Breast adenocarcinoma ERBB2 expression + ESR1 overexpression ERBB2;ESR1 EXPR;EXPR ERBB2:norm;ESR1:over CDK4/6 inhibitor Abemaciclib Responsive Early trials PMID:26658964 DTamborero;CRubio-Perez 04/16 BRCA TRUE Abemaciclib (CDK4/6 inhibitor) Breast adenocarcinoma ERBB2 expression + ESR1 overexpression ERBB2;ESR1 EXPR;EXPR ERBB2:norm;ESR1:over Approved MTOR inhibitor Everolimus Responsive FDA guidelines FDA JAlbanell;ARovira 09/15 BRCA TRUE HER2- (not overexpressed and not amplified) and ER+ (>1% positive tumor cells) Everolimus (MTOR inhibitor) Breast adenocarcinoma ERBB2 expression - ERBB2 EXPR ERBB2:norm Approved CDK4/6 inhibitor Palbociclib Responsive FDA guidelines FDA: https://www.fda.gov/drugs/resources-information-approved-drugs/palbociclib-ibrance CRubio-Perez;RShadrina;SDemajo BRCA TRUE Indicated for the treatment of hormone receptor (HR)-positive, human epidermal growth factor receptor 2 (HER2)-negative advanced or metastatic breast cancer in combination with: an aromatase inhibitor as initial endocrine based therapy in postmenopausal women; or fulvestrant in women with disease progression following endocrine therapy. Palbociclib (CDK4/6 inhibitor) Breast adenocarcinoma STK11 oncogenic mutation + KRAS oncogenic mutation STK11;KRAS MUT;MUT STK11:.;KRAS:. [PD1 Ab inhibitor] [] Resistant Early trials ASCO 2017 (abstr 9016) RDientsmann 07/17 LUAD TRUE PD1 Ab inhibitors Lung adenocarcinoma ERBB3 (P262H,G284R) ERBB3 MUT ERBB3:P262H,G284R [ERBB3 mAb inhibitor] [] Responsive Pre-clinical PMID:23680147 RDientsmann CANCER TRUE ERBB3 mAb inhibitors Any cancer type ERBB3 (P262H,G284R,Q809R) ERBB3 MUT ERBB3:P262H,G284R,Q809R [PI3K pathway inhibitor;MEK inhibitor] [] Responsive Pre-clinical PMID:23680147 RDientsmann CANCER TRUE PI3K pathway inhibitor + MEK inhibitors Any cancer type ERBB3 (G284R,R103G) ERBB3 MUT ERBB3:G284R,R103G ERBB2&EGFR inhibitor 2nd gen Afatinib Responsive Case report ASCO 2015 (abstr e15516) RDientsmann BLCA TRUE Afatinib (ERBB2&EGFR inhibitor 2nd gen) Bladder ERBB3 (G284R,V104M,R103G) ERBB3 MUT ERBB3:G284R,V104M,R103G ERBB2&EGFR inhibitor 2nd gen Afatinib Responsive Case report PMID:27044931 RDientsmann 07/16 BLCA TRUE Afatinib (ERBB2&EGFR inhibitor 2nd gen) Bladder ERBB3 (P262H,G284R,Q809R) ERBB3 MUT ERBB3:P262H,G284R,Q809R ERBB2 inhibitor Lapatinib Responsive Pre-clinical PMID:23680147 RDientsmann CANCER TRUE Lapatinib (ERBB2 inhibitor) Any cancer type ERBB3 (P262H,G284R) ERBB3 MUT ERBB3:P262H,G284R ERBB2 mAb inhibitor Pertuzumab Responsive Pre-clinical PMID:23680147 RDientsmann CANCER TRUE Pertuzumab (ERBB2 mAb inhibitor) Any cancer type ERBB3 (P262H,G284R,Q809R) ERBB3 MUT ERBB3:P262H,G284R,Q809R ERBB2 mAb inhibitor Trastuzumab Responsive Pre-clinical PMID:23680147 RDientsmann CANCER TRUE Trastuzumab (ERBB2 mAb inhibitor) Any cancer type STK11 deletion + KRAS oncogenic mutation STK11;KRAS CNA;MUT STK11:del;KRAS:. [PD1 Ab inhibitor] [] Resistant Early trials ASCO 2017 (abstr 9016) RDientsmann 07/17 LUAD TRUE PD1 Ab inhibitors Lung adenocarcinoma ERBB4 (E317K,E452K,R544W,R393W,E872K) ERBB4 MUT ERBB4:E317K,E452K,R544W,R393W,E872K ERBB2 inhibitor Lapatinib Responsive Pre-clinical PMID:19718025 RDientsmann CM TRUE Lapatinib (ERBB2 inhibitor) Cutaneous melanoma ERBB4 fusion ERBB4 FUS ERBB4__. ERBB2 inhibitor;ERBB2 inhibitor&EGFR inhibitor 2nd gen Lapatinib;Afatinib Responsive Pre-clinical PMID:24727320 RDientsmann LUAD TRUE Lapatinib + Afatinib (ERBB2 inhibitor + ERBB2 inhibitor&EGFR inhibitor 2nd gen) Lung adenocarcinoma ERCC1 oncogenic mutation ERCC1 MUT ERCC1:. [PARP inhibitor] [] Responsive Pre-clinical PMID:23934192 RDientsmann L TRUE PARP inhibitors Lung ERCC1 deletion ERCC1 CNA ERCC1:del [PARP inhibitor] [] Responsive Pre-clinical PMID:23934192 RDientsmann L TRUE PARP inhibitors Lung ERCC1 oncogenic mutation ERCC1 MUT ERCC1:. Chemotherapy Cisplatin Responsive Pre-clinical PMID:23275151;PMID:23934192 RDientsmann 01/16 L TRUE Cisplatin (Chemotherapy) Lung ERCC1 deletion ERCC1 CNA ERCC1:del Chemotherapy Cisplatin Responsive Pre-clinical PMID:23275151;PMID:23934192 RDientsmann 01/16 L TRUE Cisplatin (Chemotherapy) Lung TP53 oncogenic mutation TP53 MUT TP53:. [MDM2 inhibitor] [] Resistant Early trials PMID:23084521;ASCO 2015 (abstr 10564) RDientsmann 01/16 LIP TRUE MDM2 inhibitors Liposarcoma ERCC2 oncogenic mutation ERCC2 MUT ERCC2:. Chemotherapy Cisplatin Responsive Early trials PMID:25096233 RDientsmann BLCA TRUE Cisplatin (Chemotherapy) Bladder ERCC4 oncogenic mutation ERCC4 MUT ERCC4:. Chemotherapy Cisplatin Responsive Pre-clinical PMID:25634215 RDientsmann OV TRUE Cisplatin (Chemotherapy) Ovary ERCC6 oncogenic mutation ERCC6 MUT ERCC6:. Chemotherapy Cisplatin Responsive Pre-clinical PMID:25634215 RDientsmann OV TRUE Cisplatin (Chemotherapy) Ovary EREG amplification EREG CNA EREG:amp [EGFR mAb inhibitor] [] Responsive Early trials PMID:19738126;PMID:26341080 RDientsmann 04/16 COREAD TRUE EGFR mAb inhibitors Colorectal adenocarcinoma ZBTB16 undexpression ZBTB16 EXPR ZBTB16:under [LHRH analogues or antagonist] [] Resistant Pre-clinical PMID:16637071 ARodriguez-Vida 09/15 PRAD PR TRUE LHRH analogues or antagonists Prostate adenocarcinoma ESR1 (E380Q,537,538,L536,P535H) ESR1 MUT ESR1:E380Q,.537.,.538.,L536.,P535H [novel ER degrader] [GDC-0810] Responsive Case report AACR 2015 (abstr CT231) RDientsmann 01/16 BRCA TRUE novel ER degraders (GDC-0810,etc) Breast adenocarcinoma NTRK1 (G595R,G667C) NTRK1 MUT NTRK1:G595R,G667C [Pan-TK inhibitor] [Entrectinib] Resistant Case report PMID:26546295 RDientsmann 11/15 COREAD TRUE Pan-TK inhibitors (Entrectinib,etc) Colorectal adenocarcinoma ESR1 oncogenic mutation ESR1 MUT ESR1:. Hormonal therapy Fluvestrant Responsive Late trials PMID:27269946 RDientsmann 06/16 BRCA TRUE Fluvestrant (Hormonal therapy) Breast adenocarcinoma ERBB4 (H809G) ERBB4 MUT ERBB4:H809G [ERBB2 inhibitor] [Lapatinib] Resistant Case report PMID:26530965 RDientsmann 11/15 BRCA TRUE ERBB2 inhibitors (Lapatinib,etc) Breast adenocarcinoma ABL1 (T315I) ABL1 MUT ABL1:T315I Approved [BCR-ABL inhibitor 2nd gen] [Nilotinib,Dasatinib] Resistant European LeukemiaNet guidelines PMID:21562040 CRubio-Perez 12/15 CML TRUE Has to be rechecked BCR-ABL inhibitor 2nd gens (Nilotinib,Dasatinib,etc) Chronic myeloid leukemia EZH2 (Y641,A677) EZH2 MUT EZH2:Y641.,A677. Direct Pre-clinical [EZH2 inhibitor] [EPZ-005687,EPZ-6438] Responsive Pre-clinical Cell line PMID:23023262;PMID:24563539 RDientsmann;ECampo LY TRUE EZH2 inhibitors (EPZ-005687,EPZ-6438,etc) Lymphoma FANCA oncogenic mutation FANCA MUT FANCA:. PARP inhibitor Olaparib Responsive Case report PMID:26510020 RDientsmann 01/16 PRAD TRUE Olaparib (PARP inhibitor) Prostate adenocarcinoma FANCA deletion FANCA CNA FANCA:del PARP inhibitor Olaparib Responsive Case report PMID:26510020 RDientsmann 01/16 PRAD TRUE Olaparib (PARP inhibitor) Prostate adenocarcinoma FANCC oncogenic mutation FANCC MUT FANCC:. Indirect Approved Chemotherapy Cisplatin Responsive Early trials PMID:26238431 ARodriguez-Vida 09/15 BLCA BLCA TRUE Cisplatin (Chemotherapy) Bladder FANCC deletion FANCC CNA FANCC:del Indirect Approved Chemotherapy Cisplatin Responsive Early trials PMID:26238431 ARodriguez-Vida 09/15 BLCA BLCA TRUE Cisplatin (Chemotherapy) Bladder FAT1 oncogenic mutation FAT1 MUT FAT1:. [BET inhibitor] [] Responsive Pre-clinical PMID:27397505 RDientsmann 07/16 HNSC TRUE BET inhibitors Head an neck squamous FBXW7 oncogenic mutation FBXW7 MUT FBXW7:. [Steroid] [] Responsive Late trials PMID:20861909 RDientsmann 01/16 ALL TRUE Steroids Acute lymphoblastic leukemia TP53 oncogenic mutation TP53 MUT TP53:. CDK4/CDK6 inhibitor Abemaciclib Resistant Early trials PMID:27217383 RDientsmann 12/16 BRCA TRUE Abemaciclib (CDK4/CDK6 inhibitor) Breast adenocarcinoma FBXW7 deletion FBXW7 CNA FBXW7:del Indirect Approved MTOR inhibitor Sirolimus Responsive Pre-clinical Cell line PMID:23558291 CRubio-Perez COREAD TRUE Sirolimus (MTOR inhibitor) Colorectal adenocarcinoma FGF3 amplification FGF3 CNA FGF3:amp FGFR inhibitor Dovitinib Responsive Early trials PMID:23658459 RDientsmann BRCA TRUE Dovitinib (FGFR inhibitor) Breast adenocarcinoma FGF3 amplification FGF3 CNA FGF3:amp Indirect Clinical Trials FGFR inhibitor Lucitanib Responsive Early trials PMID:25193991 JAlbanell;ARovira 09/15 BRCA TRUE Lucitanib (FGFR inhibitor) Breast adenocarcinoma FGF4 amplification FGF4 CNA FGF4:amp FGFR inhibitor Dovitinib Responsive Early trials PMID:23658459 RDientsmann BRCA TRUE Dovitinib (FGFR inhibitor) Breast adenocarcinoma FGF4 amplification FGF4 CNA FGF4:amp Indirect Clinical Trials FGFR inhibitor Lucitanib Responsive Early trials PMID:25193991 JAlbanell;ARovira 09/15 BRCA TRUE Lucitanib (FGFR inhibitor) Breast adenocarcinoma FGFR1 amplification FGFR1 CNA FGFR1:amp [FGFR inhibitor] [] Responsive Case report PMID:27870574 RDientsmann 07/17 LUSC TRUE FGFR inhibitors Lung squamous cell FGFR1 amplification FGFR1 CNA FGFR1:amp [FGFR inhibitor] [] Responsive Case report ASCO 2017 (abstr 2500) RDientsmann 07/17 ED TRUE FGFR inhibitors Endometrium FGFR1 amplification FGFR1 CNA FGFR1:amp [FGFR inhibitor] [] Responsive Early trials AACR 2012 (abstr LB-122);AACR 2013 (abstr LB-145) RDientsmann LUSC TRUE FGFR inhibitors Lung squamous cell FGFR1 amplification FGFR1 CNA FGFR1:amp [FGFR inhibitor] [] Responsive Pre-clinical PMID:23418312 RDientsmann HNC TRUE FGFR inhibitors Head an neck FGFR1 amplification FGFR1 CNA FGFR1:amp [FGFR inhibitor] [Lucitanib] Responsive Early trials PMID:25193991 RDientsmann;JAlbanell BRCA TRUE FGFR inhibitors (Lucitanib,etc) Breast adenocarcinoma AR amplification AR CNA AR:amp Approved AR inhibitor Abiraterone Resistant Early trials PMID:26537258 RDientsmann 11/15 PRAD TRUE Abiraterone (AR inhibitor) Prostate adenocarcinoma AR (L702H,T878A) AR MUT AR:L702H,T878A Approved AR inhibitor Abiraterone Resistant Early trials PMID:26537258 RDientsmann 11/15 PRAD TRUE REMAP:T877A to T878A the previous mutation was not found in . transcript to our knowledge. Abiraterone (AR inhibitor) Prostate adenocarcinoma FGFR2 fusion FGFR2 FUS FGFR2__. [FGFR inhibitor] [] Responsive Early trials ASCO 2016 (abstr 109) RDientsmann BT TRUE FGFR inhibitors Billiary tract FGFR2 inframe insertion (A266),inframe insertion (S267) FGFR2 MUT FGFR2::consequence::inframe_insertion:A266.,::inframe_insertion:S267. [FGFR inhibitor] [] Responsive Pre-clinical PMID:26048680 RDientsmann 01/16 L TRUE FGFR inhibitors Lung FGFR2 amplification FGFR2 CNA FGFR2:amp [FGFR inhibitor] [] Responsive Early trials ASCO 2015 (abstr 2508) RDientsmann 01/16 ST TRUE FGFR inhibitors Stomach FGFR2 amplification FGFR2 CNA FGFR2:amp [FGFR inhibitor] [] Responsive Case report PMID:25193991 RDientsmann 01/16 BRCA TRUE FGFR inhibitors Breast adenocarcinoma EGFR overexpression EGFR EXPR EGFR:over Approved EGFR mAb inhibitor Panitumumab Resistant FDA guidelines FDA guidelines CRubio-Perez;RDientsmann COREAD TRUE Panitumumab (EGFR mAb inhibitor) Colorectal adenocarcinoma FGFR2 (S252W,N550K) FGFR2 MUT FGFR2:S252W,N550K [FGFR inhibitor] [] Responsive Pre-clinical PMID:18552176;PMID:22238366;PMID:23002168 RDientsmann ED TRUE REMAP: N549K to N500K to have all mutations in same transcript (ENST00000457416) FGFR inhibitors Endometrium FGFR2 (V565I) FGFR2 MUT FGFR2:V565I [FGFR inhibitor] [] Responsive Pre-clinical ENA 2014 (abstr 381) RDientsmann 01/16 ED TRUE FGFR inhibitors Endometrium FGFR2 (W290C,S320C,K660N) FGFR2 MUT FGFR2:W290C,S320C,K660N [FGFR inhibitor] [] Responsive Pre-clinical PMID:23786770;PMID:25035393 RDientsmann LUSC TRUE FGFR inhibitors Lung squamous cell FGFR2 fusion FGFR2 FUS FGFR2__. [FGFR inhibitor] [] Responsive Early trials ASCO 2017 (abstr 2500) RDientsmann 07/17 COREAD TRUE FGFR inhibitors Colorectal adenocarcinoma ALK (I1171T) ALK MUT ALK:I1171T ALK inhibitor Alectinib Resistant Case report PMID:25228534 RDientsmann 01/16 LUAD TRUE Alectinib (ALK inhibitor) Lung adenocarcinoma FGFR2 (M536I,M538I,I548V,N550,E566G,L618M,K660E) FGFR2 MUT FGFR2:M536I,M538I,I548V,N550.,E566G,L618M,K660E BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor Ponatinib Responsive Pre-clinical PMID:23908597 RDientsmann 01/16 ED TRUE Ponatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor) Endometrium FGFR3 fusion FGFR3 FUS FGFR3__. [FGFR inhibitor] [] Responsive Early trials PMID:26324363 RDientsmann 01/16 G TRUE FGFR inhibitors Glioma FGFR3 oncogenic mutation FGFR3 MUT FGFR3:. [FGFR inhibitor] [] Responsive Early trials PMID:27870574 RDientsmann 01/16 BLCA TRUE FGFR inhibitors Bladder FGFR3 (K650,Y373C) FGFR3 MUT FGFR3:K650.,Y373C [FGFR inhibitor] [] Responsive Pre-clinical PMID:16091734;PMID:20439987;PMID:22869148 RDientsmann 01/16 MYMA TRUE FGFR inhibitors Myeloma FGFR3 (S249C,G691R) FGFR3 MUT FGFR3:S249C,G691R [FGFR inhibitor] [] Responsive Pre-clinical PMID:27998968 RDientsmann 07/17 LUAD TRUE FGFR inhibitors Lung adenocarcinoma AR (F877L) AR MUT AR:F877L AR inhibitor Arn-509 Resistant Case report PMID:23779130 RDientsmann;ARodriguez-Vida 09/15 PRAD PRAD TRUE REMAP:F876L to F877L the previous mutation was not found in . transcript to our knowledge. Arn-509 (AR inhibitor) Prostate adenocarcinoma FGFR3 fusion FGFR3 FUS FGFR3__. [FGFR inhibitor] [] Responsive Case report PMID:26324363;ASCO 2017 (abstr 2500) RDientsmann 07/17 BLCA TRUE FGFR inhibitors Bladder FGFR3 (K650) FGFR3 MUT FGFR3:K650. Proteasome inhibitor Bortezomib Responsive Pre-clinical PMID:19331127;PMID:21273588 RDientsmann MYMA TRUE Bortezomib (Proteasome inhibitor) Myeloma FGFR3-TACC3 fusion FGFR3 FUS FGFR3__TACC3 [FGFR inhibitor] Responsive Pre-clinical PMID:25294908 EArriola 06/16 NSCLC TRUE FGFR inhibitors (,etc) Non-small cell lung FGFR4 (N535,V550) FGFR4 MUT FGFR4:N535.,V550. [FGFR inhibitor] [] Responsive Pre-clinical PMID:19809159;PMID:24124571 RDientsmann 04/16 RHBDS TRUE REMAP:changed N535 and V550 from K535 and E550. Reference added by carlota FGFR inhibitors Rhabdomyosarcoma FLCN oncogenic mutation FLCN MUT FLCN:. MTOR inhibitor Everolimus Responsive Case report PMID:23995526 RDientsmann 01/16 R TRUE Everolimus (MTOR inhibitor) Renal FLCN deletion FLCN CNA FLCN:del MTOR inhibitor Everolimus Responsive Case report PMID:25295501 RDientsmann 01/16 TH TRUE Everolimus (MTOR inhibitor) Thyroid FLT1 overexpression FLT1 EXPR VEGFR1:over Direct Approved Pan-TK inhibitor Sunitinib Responsive Pre-clinical Cell line PMID:24086736;PMID:21478036 ARodriguez-Vida 09/15 R TRUE Sunitinib (Pan-TK inhibitor) Renal FLT1 overexpression FLT1 EXPR VEGFR2:over Direct Approved Pan-TK inhibitor Sunitinib Responsive Pre-clinical Cell line PMID:24086736;PMID:21478036 ARodriguez-Vida 09/15 R TRUE Sunitinib (Pan-TK inhibitor) Renal FGFR3 (Y373C) FGFR3 MUT FGFR3:Y373C Proteasome inhibitor Bortezomib Resistant Pre-clinical PMID:19331127;PMID:21273588 RDientsmann MYMA TRUE Bortezomib (Proteasome inhibitor) Myeloma FLT3-ITD FLT3 MUT FLT3::consequence::inframe_variant:572-630 [FLT3 inhibitor] [] Responsive Early trials PMID:16857985 RDientsmann;SDemajo;RShadrina 01/16 AML TRUE ITD (codified as inframe) in Juxtamembrane domain FLT3 inhibitors Acute myeloid leukemia FLT3 (F691) FLT3 MUT FLT3:F691. [novel FLT3 inhibitor] [] Responsive Pre-clinical PMID:25847190 RDientsmann 01/16 AML TRUE novel FLT3 inhibitors Acute myeloid leukemia FLT3 (N676) FLT3 MUT FLT3:N676. FLT3 inhibitor Crenolanib Responsive Pre-clinical PMID:24619500 RDientsmann 01/16 AML TRUE Crenolanib (FLT3 inhibitor) Acute myeloid leukemia FLT3 (D835) FLT3 MUT FLT3:D835. Pan-TK inhibitor Lestaurtinib Responsive Case report PMID:16857985 RDientsmann 01/16 AML TRUE Lestaurtinib (Pan-TK inhibitor) Acute myeloid leukemia FLT3 (D835) FLT3 MUT FLT3:D835. Pan-TK inhibitor Midostaurin Responsive Case report PMID:20733134 RDientsmann 01/16 AML TRUE Midostaurin (Pan-TK inhibitor) Acute myeloid leukemia FLT3 (N676) FLT3 MUT FLT3:N676. Pan-TK inhibitor Midostaurin Responsive Pre-clinical PMID:24619500 RDientsmann 01/16 AML TRUE Midostaurin (Pan-TK inhibitor) Acute myeloid leukemia ABL1 (T315I) ABL1 MUT ABL1:T315I Approved BCR-ABL inhibitor 3rd gen Bosutinib Resistant European LeukemiaNet guidelines PMID:21562040 CRubio-Perez 12/15 CML TRUE Has to be rechecked Bosutinib (BCR-ABL inhibitor 3rd gen) Chronic myeloid leukemia FLT3-ITD FLT3 MUT FLT3::consequence::inframe_variant:572-630 Pan-TK inhibitor Quizartinib Responsive Early trials ASH 2012 (abstr 673);ASH 2012 (abstr 48) RDientsmann;SDemajo;RShadrina 01/16 AML TRUE ITD (codified as inframe) in Juxtamembrane domain Quizartinib (Pan-TK inhibitor) Acute myeloid leukemia PTEN biallelic inactivation PTEN BIA PTEN:. Clinical Trials PIK3CA inhibitor BYL719 Resistant Case report PMID:25409150 DTamborero BRCA TRUE BYL719 (PIK3CA inhibitor) Breast adenocarcinoma FLT3-ITD FLT3 MUT FLT3::consequence::inframe_variant:572-630 Pan-TK inhibitor Sorafenib Responsive Early trials PMID:19389879;PMID:22368270 RDientsmann;SDemajo;RShadrina 01/16 AML TRUE ITD (codified as inframe) in Juxtamembrane domain Sorafenib (Pan-TK inhibitor) Acute myeloid leukemia FLT3-ITD FLT3 MUT FLT3::consequence::inframe_variant:572-630 Pan-TK inhibitor;Chemotherapy Sorafenib;Azacytidine Responsive Early trials PMID:23613521 RDientsmann;SDemajo;RShadrina 01/16 AML TRUE ITD (codified as inframe) in Juxtamembrane domain Sorafenib + Azacytidine (Pan-TK inhibitor + Chemotherapy) Acute myeloid leukemia NF1 oncogenic mutation NF1 MUT NF1:. ALK inhibitor Cediranib No Responsive Early trials NCT00326872 RDientsmann 07/16 PLEN TRUE germline Cediranib (ALK inhibitor) Plexiform neurofibroma NF1 deletion NF1 CNA NF1:del ALK inhibitor Cediranib No Responsive Early trials NCT00326872 RDientsmann 07/16 PLEN TRUE germline NCT00326872 (trial results section) Cediranib (ALK inhibitor) Plexiform neurofibroma ALK (G1123S) ALK MUT ALK:G1123S ALK inhibitor Ceritinib Resistant Case report PMID:26134233 EArriola 09/15 LUAD TRUE Ceritinib (ALK inhibitor) Lung adenocarcinoma FOXA1 amplification FOXA1 CNA FOXA1:amp [BCL2 inhibitor] [] Responsive Pre-clinical PMID:27397505 RDientsmann 07/16 COREAD TRUE BCL2 inhibitors Colorectal adenocarcinoma FRS2 amplification FRS2 CNA FRS2:amp [FGFR inhibitor] [] Responsive Pre-clinical PMID:23393200 RDientsmann LIP TRUE FGFR inhibitors Liposarcoma G6PD biallelic inactivation G6PD BIA G6PD:. Approved BRAF inhibitor Dabrafenib Increased Toxicity (Haemolytic Anemia) FDA guidelines FDA DTamborero;CRubio-Perez 01/16 CANCER TRUE Dabrafenib (BRAF inhibitor) Any cancer type G6PD (S218F) G6PD MUT G6PD:S218F Approved BRAF inhibitor Dabrafenib Increased Toxicity (Haemolytic Anemia) FDA guidelines FDA DTamborero;CRubio-Perez 01/16 CANCER TRUE Dabrafenib (BRAF inhibitor) Any cancer type G6PD (V98M) + G6PD (N156D) G6PD;G6PD MUT;MUT G6PD:V98M;G6PD:N156D Approved BRAF inhibitor Dabrafenib Increased Toxicity (Haemolytic Anemia) FDA guidelines FDA DTamborero;CRubio-Perez 01/16 CANCER TRUE Dabrafenib (BRAF inhibitor) Any cancer type GATA3 oncogenic mutation GATA3 MUT GATA3:. [Aromatase ihibitor] [] Responsive Pre-clinical PMID:24758297 RDientsmann BRCA TRUE Aromatase ihibitors Breast adenocarcinoma ROS1 (S1986Y,S1986F) ROS1 MUT ROS1:S1986Y,S1986F ALK inhibitor Ceritinib Resistant Case report PMID:27401242 RDientsmann 07/17 LUAD TRUE Ceritinib (ALK inhibitor) Lung adenocarcinoma GNA11 (Q209L,Q209P) GNA11 MUT GNA11:Q209L,Q209P [PI3K pathway inhibitor;MEK inhibitor] [] Responsive Pre-clinical PMID:22733540;PMID:22808163 RDientsmann 01/16 CM TRUE PI3K pathway inhibitor + MEK inhibitors Cutaneous melanoma GNA11 (Q209L,Q209P) GNA11 MUT GNA11:Q209L,Q209P MEK inhibitor Selumetinib Responsive Early trials ASCO 2013 (abstr CRA9003) RDientsmann 01/16 CM TRUE Selumetinib (MEK inhibitor) Cutaneous melanoma GNA11 (Q209L,Q209P) GNA11 MUT GNA11:Q209L,Q209P HDAC inhibitor Vorinostat Responsive Pre-clinical NCT01587352 RDientsmann 01/16 CM TRUE Vorinostat (HDAC inhibitor) Cutaneous melanoma GNAQ (Q209) GNAQ MUT GNAQ:Q209. [HDAC inhibitor] [] Responsive Pre-clinical NCT01587352 RDientsmann 01/16 CM TRUE HDAC inhibitors Cutaneous melanoma GNAQ (Q209) GNAQ MUT GNAQ:Q209. [PI3K pathway inhibitor;MEK inhibitor] [] Responsive Pre-clinical PMID:22733540;PMID:22808163 RDientsmann 01/16 CM TRUE PI3K pathway inhibitor + MEK inhibitors Cutaneous melanoma GNAQ (Q209) GNAQ MUT GNAQ:Q209. [PKC inhibitor] [] Responsive Pre-clinical PMID:22653968;PMID:22253748 RDientsmann 01/16 CM TRUE PKC inhibitors Cutaneous melanoma GNAQ (Q209) GNAQ MUT GNAQ:Q209. MEK inhibitor Selumetinib Responsive Early trials ASCO 2013 (abstr CRA9003) RDientsmann 01/16 CM TRUE Selumetinib (MEK inhibitor) Cutaneous melanoma GNAS (R201) GNAS MUT GNAS:R201. [JAK inhibitor] [] Responsive Pre-clinical PMID:21835143 RDientsmann CANCER TRUE JAK inhibitors Any cancer type HDAC2 biallelic inactivation HDAC2 BIA HDAC2:. PARP inhibitor Olaparib Responsive Case report PMID:26510020 RDientsmann;CRubio-Perez 01/16 PRAD TRUE Olaparib (PARP inhibitor) Prostate adenocarcinoma HGF overexpression HGF EXPR HGF:over Indirect Approved Pan-kinase inhibitor Cabozantinib Responsive Pre-clinical Xenograft PMID:25534569 CRubio-Perez;ARodriguez-Vida UTC TRUE Cabozantinib (Pan-kinase inhibitor) Urinary tract carcinoma BRAF (V600E) BRAF MUT BRAF:V600E EGFR mAb inhibitor Cetuximab Resistant Late trials PMID:20619739;PMID:21163703;PMID:23325582 RDientsmann COREAD TRUE Cetuximab (EGFR mAb inhibitor) Colorectal adenocarcinoma HIF1A overexpression HIF1A EXPR HIF1A:over Indirect Approved Pan-TK inhibitor Sunitinib Responsive Pre-clinical Cell line PMID:24086736 ARodriguez-Vida 09/15 R TRUE Sunitinib (Pan-TK inhibitor) Renal HRAS oncogenic mutation HRAS MUT HRAS:. [MEK inhibitor +/- MTOR inhibitor] [] Responsive Pre-clinical PMID:22399013;PMID:22507781 RDientsmann AML TRUE MEK inhibitor +/- MTOR inhibitors Acute myeloid leukemia HRAS oncogenic mutation HRAS MUT HRAS:. [MTOR inhibitor] [] Responsive Pre-clinical PMID:22345164 RDientsmann 01/16 CESC TRUE MTOR inhibitors Cervix squamous cell HRAS oncogenic mutation HRAS MUT HRAS:. [PI3K pathway inhibitor;MEK inhibitor] [] Responsive Pre-clinical PMID:15950068 RDientsmann CER TRUE PI3K pathway inhibitor + MEK inhibitors Cervix HRAS oncogenic mutation HRAS MUT HRAS:. Farnesyltransferase inhibitor Tipifarnib Responsive Early trials NCT02383927 RDientsmann 01/16 CANCER TRUE Tipifarnib (Farnesyltransferase inhibitor) Any cancer type HRAS oncogenic mutation HRAS MUT HRAS:. Clinical Trials Farnesyltransferase inhibitor Tipifarnib Responsive Early trials NCT02383927 RDientsmann 11/15 CANCER TRUE Tipifarnib (Farnesyltransferase inhibitor) Any cancer type IDH1 oncogenic mutation IDH1 MUT IDH1:. [BCL2 inhibitor] [] Responsive Pre-clinical PMID:25599133 RDientsmann 01/16 AML TRUE BCL2 inhibitors Acute myeloid leukemia IDH1 oncogenic mutation IDH1 MUT IDH1:. [IDH1 inhibitor] [] Responsive Early trials ENA 2014 (abstr 1LBA) RDientsmann 01/16 AML TRUE IDH1 inhibitors Acute myeloid leukemia IDH1 (R132) IDH1 MUT IDH1:R132. [PARP inhibitor] [] Responsive Pre-clinical PMID:28148839 RDientsmann 07/17 CANCER TRUE PARP inhibitors Any cancer type IDH1 oncogenic mutation IDH1 MUT IDH1:. Direct Clinical Trials IDH1 inhibitor AG-120 Responsive Early trials NCT02073994;PMID:23558169 MMartínez;RDientsmann;CRubio-Perez 09/15 G TRUE AG-120 (IDH1 inhibitor) Glioma IDH1 oncogenic mutation IDH1 MUT IDH1:. Indirect Clinical Trials BCR-ABL inhibitor 2nd gen Dasatinib Responsive Early trials NCT02428855 CRubio-Perez CH TRUE Dasatinib (BCR-ABL inhibitor 2nd gen) Cholangiocarcinoma IDH1 (R132) IDH1 MUT IDH1:R132. BCR-ABL inhibitor 2nd gen Dasatinib Responsive Pre-clinical PMID:27231123 RDientsmann 07/16 BT TRUE Dasatinib (BCR-ABL inhibitor 2nd gen) Billiary tract IDH1 oncogenic mutation IDH1 MUT IDH1:. BCL2 inhibitor Venetoclax Responsive Early trials PMID:27520294 DTamborero;CRubio-Perez 10/16 AML TRUE ITD (codified as inframe) in Juxtamembrane domain Venetoclax (BCL2 inhibitor) Acute myeloid leukemia IDH2 (R140K,R172K) IDH2 MUT IDH2:R140K,R172K Direct Clinical Trials IDH2 inhibitor AG-221 Responsive Early trials AACR 2014 (abstr CT103) RDientsmann HEMATO TRUE AG-221 (IDH2 inhibitor) Hematologic malignancies IDH2 oncogenic mutation IDH2 MUT IDH2:. Indirect Clinical Trials BCR-ABL inhibitor 2nd gen Dasatinib Responsive Early trials NCT02428855 CRubio-Perez CH TRUE Dasatinib (BCR-ABL inhibitor 2nd gen) Cholangiocarcinoma IDH2 (R172) IDH2 MUT IDH2:R172. BCR-ABL inhibitor 2nd gen Dasatinib Responsive Pre-clinical PMID:27231123 RDientsmann 07/16 BT TRUE Dasatinib (BCR-ABL inhibitor 2nd gen) Billiary tract IDH2 oncogenic mutation IDH2 MUT IDH2:. BCL2 inhibitor Venetoclax Responsive Early trials PMID:27520294 DTamborero;CRubio-Perez 10/16 AML TRUE ITD (codified as inframe) in Juxtamembrane domain Venetoclax (BCL2 inhibitor) Acute myeloid leukemia EGFR (S464L,G465R,I491M) EGFR MUT EGFR:S464L,G465R,I491M Approved EGFR mAb inhibitor Cetuximab Resistant Pre-clinical PMID:25623215 RDientsmann COREAD TRUE Cetuximab (EGFR mAb inhibitor) Colorectal adenocarcinoma EGFR (S492R,G465R,R451C,K467T) EGFR MUT EGFR:S492R,G465R,R451C,K467T EGFR mAb inhibitor Cetuximab Resistant Case report PMID:22270724;PMID:26059438;PMID:25623215;PMID:22270724;PMID:26888827 RDientsmann 07/16 COREAD TRUE Cetuximab (EGFR mAb inhibitor) Colorectal adenocarcinoma IL7R inframe insertion (237-255),inframe deletion (237-255) + SH2B3 deletion IL7R;SH2B3 MUT;CNA IL7R::consequence::inframe_insertion:237-255,::inframe_deletion:237-255;SH2B3:del [MTOR inhibitor] [] Responsive Pre-clinical PMID:22955920 RDientsmann 01/16 ALL TRUE MTOR inhibitors Acute lymphoblastic leukemia IL7R (S185C) + SH2B3 deletion IL7R;SH2B3 MUT;CNA IL7R:S185C;SH2B3:del [MTOR inhibitor] [] Responsive Pre-clinical PMID:22955920 RDientsmann 01/16 ALL TRUE MTOR inhibitors Acute lymphoblastic leukemia IL7R inframe insertion (237-255),inframe deletion (237-255) + SH2B3 deletion IL7R;SH2B3 MUT;CNA IL7R::consequence::inframe_insertion:237-255,::inframe_deletion:237-255;SH2B3:del JAK inhibitor Ruxolitinib Responsive Pre-clinical PMID:22897847;PMID:22955920 RDientsmann 01/16 ALL TRUE Ruxolitinib (JAK inhibitor) Acute lymphoblastic leukemia IL7R (S185C) + SH2B3 deletion IL7R;SH2B3 MUT;CNA IL7R:S185C;SH2B3:del JAK inhibitor Ruxolitinib Responsive Pre-clinical PMID:22897847;PMID:22955920 RDientsmann 01/16 ALL TRUE Ruxolitinib (JAK inhibitor) Acute lymphoblastic leukemia INPP4B oncogenic mutation INPP4B MUT INPP4B:. [PI3K pathway inhibitor] [] Responsive Pre-clinical PMID:23551093 RDientsmann BRCA TRUE PI3K pathway inhibitors Breast adenocarcinoma INPP4B deletion INPP4B CNA INPP4B:del [PI3K pathway inhibitor] [] Responsive Pre-clinical PMID:23551093 RDientsmann BRCA TRUE PI3K pathway inhibitors Breast adenocarcinoma KRAS oncogenic mutation KRAS MUT KRAS:. [EZH2 inhibitor] [] Resistant Pre-clinical PMID:26552009 RDientsmann 01/16 CANCER TRUE EZH2 inhibitors Any cancer type KRAS oncogenic mutation KRAS MUT KRAS:. [PI3K pathway inhibitor] [] Resistant Pre-clinical PMID:22662154 RDientsmann ED TRUE PI3K pathway inhibitors Endometrium JAK1 (S646F;R683) JAK1 MUT JAK1:S646F,R683. JAK inhibitor Ruxolitinib Responsive Pre-clinical PMID:22955920;PMID:18805579 RDientsmann 01/16 ALL TRUE Ruxolitinib (JAK inhibitor) Acute lymphoblastic leukemia JAK2 (V617F) JAK2 MUT JAK2:V617F [JAK inhibitor (alone or in combination)] [] Responsive Pre-clinical PMID:22829971 RDientsmann 01/16 AML TRUE JAK inhibitor (alone or in combination)s Acute myeloid leukemia JAK2 amplification JAK2 CNA JAK2:amp [JAK inhibitor] [] Responsive Pre-clinical PMID:27075627 RDientsmann 06/16 BRCA TRUE JAK inhibitors Breast adenocarcinoma NRAS (12,13,59,61,117,146) NRAS MUT NRAS:.12.,.13.,.59.,.61.,.117.,.146. Approved EGFR mAb inhibitor Panitumumab Resistant FDA guidelines FDA guidelines RDientsmann COREAD TRUE Panitumumab (EGFR mAb inhibitor) Colorectal adenocarcinoma JAK2-BRAF fusion JAK2 FUS JAK2__BRAF JAK inhibitor Ruxolitinib Responsive Pre-clinical PMID:22875628;PMID:22899477 RDientsmann 01/16 ALL TRUE Ruxolitinib (JAK inhibitor) Acute lymphoblastic leukemia JAK2 (V617F) JAK2 MUT JAK2:V617F JAK inhibitor Ruxolitinib Responsive Early trials PMID:22422826 RDientsmann 01/16 AML TRUE Ruxolitinib (JAK inhibitor) Acute myeloid leukemia JAK2 (V617F) JAK2 MUT JAK2:V617F Approved JAK inhibitor Ruxolitinib Responsive FDA guidelines FDA RDientsmann MY TRUE Ruxolitinib (JAK inhibitor) Myelofibrosis JAK3 (A572V,A573V) JAK3 MUT JAK3:A572V,A573V [JAK inhibitor] [] Responsive Pre-clinical PMID:22705984 RDientsmann LY TRUE JAK inhibitors Lymphoma JAK3 (R657Q,I87T,Q501H) JAK3 MUT JAK3:R657Q,I87T,Q501H [JAK inhibitor] [] Responsive Pre-clinical PMID:18397343 RDientsmann MKB TRUE JAK inhibitors Megakaryoblastic leukemia KCNJ5 (L168R) KCNJ5 MUT KCNJ5:L168R Indirect Approved Na-Ca chanel blocker Amiloride Responsive Pre-clinical Cell line PMID:24506072 ECampo AA TRUE Amiloride (Na-Ca chanel blocker) Adrenal adenoma KCNJ5 (L168R) KCNJ5 MUT KCNJ5:L168R Indirect Approved Na-Ca chanel blocker Verapamil Responsive Pre-clinical Cell line PMID:24506072 ECampo AA TRUE Verapamil (Na-Ca chanel blocker) Adrenal adenoma KDR (A1065T) KDR MUT KDR:A1065T [VEGFR inhibitor] [] Responsive Pre-clinical PMID:24569783 RDientsmann CANCER TRUE VEGFR inhibitors Any cancer type KIT mutation in exon 11 KIT MUT KIT:550-592 [HSP90 inhibitor] [] Responsive Early trials PMID:22898035 RDientsmann 01/16 GIST TRUE HSP90 inhibitors Gastrointestinal stromal KIT mutation in exon 9 or 17 KIT MUT KIT:788-828,449-514 [HSP90 inhibitor] [] Responsive Pre-clinical PMID:21737509 RDientsmann 01/16 GIST TRUE HSP90 inhibitors Gastrointestinal stromal KIT wildtype KIT MUT KIT::wildtype:. BCR-ABL inhibitor 2nd gen Dasatinib Responsive Pre-clinical PMID:16397263 RDientsmann 01/16 GIST TRUE Dasatinib (BCR-ABL inhibitor 2nd gen) Gastrointestinal stromal KIT mutation in exon 9,11,13,14 or 17 KIT MUT KIT:550-592,627-664 BCR-ABL inhibitor 2nd gen Dasatinib Responsive Case report PMID:19671763 RDientsmann 01/16 CM TRUE Dasatinib (BCR-ABL inhibitor 2nd gen) Cutaneous melanoma KIT (D816V) KIT MUT KIT:D816V BCR-ABL inhibitor 2nd gen Dasatinib Responsive Early trials PMID:18559612 RDientsmann 01/16 SM TRUE Dasatinib (BCR-ABL inhibitor 2nd gen) Systemic mastocytosis KIT (D816V) KIT MUT KIT:D816V BCR-ABL inhibitor 2nd gen Dasatinib Responsive Case report PMID:18986703 RDientsmann 01/16 AML TRUE Dasatinib (BCR-ABL inhibitor 2nd gen) Acute myeloid leukemia KIT (D816Y,D816F,D816V) KIT MUT KIT:D816Y,D816F,D816V BCR-ABL inhibitor 2nd gen Dasatinib Responsive Pre-clinical PMID:16397263 CRubio-Perez;RDientsmann CANCER TRUE Dasatinib (BCR-ABL inhibitor 2nd gen) Any cancer type KIT (N822K) KIT MUT KIT:N822K BCR-ABL inhibitor 2nd gen Dasatinib Responsive Pre-clinical PMID:23149070 RDientsmann AML TRUE Dasatinib (BCR-ABL inhibitor 2nd gen) Acute myeloid leukemia KIT inframe deletion (416-422),inframe insertion (416-422) KIT MUT KIT::consequence::inframe_deletion:416-422,::inframe_insertion:416-422 BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Responsive Pre-clinical PMID:15618474 RDientsmann AML TRUE Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Acute myeloid leukemia KIT inframe deletion (V560) KIT MUT KIT::consequence::inframe_deletion:V560. BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Responsive Case report PMID:15201427 RDientsmann 01/16 THYM TRUE Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Thymic PIK3CA oncogenic mutation PIK3CA MUT PIK3CA:. EGFR mAb inhibitor Cetuximab Resistant Late trials PMID:19223544;PMID:20619739 RDientsmann 01/16 COREAD TRUE Cetuximab (EGFR mAb inhibitor) Colorectal adenocarcinoma KIT mutation in exon 9,11,13,14 or 17 KIT MUT KIT:449-514,550-592,627-664,664-714,788-828 Approved BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Responsive FDA guidelines FDA CRubio-Perez;DTamborero;RDientsmann GIST TRUE Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Gastrointestinal stromal KIT mutation in exon 9,11,13,14 or 17 KIT MUT KIT:550-592,627-664 BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Responsive Late trials PMID:18421059;PMID:21642685;PMID:21690468;PMID:22261812 RDientsmann 01/16 CM TRUE Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Cutaneous melanoma KIT mutation in exon 9,11,13,14 or 17 KIT MUT KIT:550-592,627-664 Approved BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Responsive NCCN guidelines NCCN RDientsmann CM TRUE Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Cutaneous melanoma PTEN biallelic inactivation PTEN BIA PTEN:. Approved EGFR mAb inhibitor Cetuximab Resistant Case report Caris molecular intelligence DTamborero COREAD TRUE Cetuximab (EGFR mAb inhibitor) Colorectal adenocarcinoma ERCC1 overexpression ERCC1 EXPR ERCC1:over Approved Chemotherapy Cisplatin Resistant Pre-clinical PMID:20846399;PMID:21177407 ARodriguez-Vida 09/15 BLCA BLCA TRUE Cisplatin (Chemotherapy) Bladder MDM2 amplification MDM2 CNA MDM2:amp Chemotherapy Cisplatin Resistant Early trials PMID:27646943 RDientsmann 12/16 MGCT TRUE Cisplatin (Chemotherapy) Male germ cell tumor TP53 oncogenic mutation TP53 MUT TP53:. Chemotherapy Cisplatin Resistant Early trials PMID:27646943 RDientsmann 12/16 FGCT;MGCT TRUE Cisplatin (Chemotherapy) Female germ cell tumor;Male germ cell tumor ALK inframe insertion (1151T) ALK MUT ALK::consequence::inframe_insertion:.1151T. ALK inhibitor Crizotinib Resistant Case report PMID:22277784 RDientsmann LUAD TRUE Crizotinib (ALK inhibitor) Lung adenocarcinoma KIT (D820Y) KIT MUT KIT:D820Y BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Responsive Case report PMID:23775962 RDientsmann 01/16 CM TRUE Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Cutaneous melanoma ALK oncogenic mutation ALK MUT ALK:. Approved ALK inhibitor Crizotinib Resistant Clinical trials PMID:22235099 EArriola 09/15 NSCLC TRUE Crizotinib (ALK inhibitor) Non-small cell lung ALK amplification ALK CNA ALK:amp Approved ALK inhibitor Crizotinib Resistant Clinical trials PMID:22235099 EArriola 09/15 NSCLC TRUE Crizotinib (ALK inhibitor) Non-small cell lung KIT (Y553N) KIT MUT KIT:Y553N BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Responsive Case report PMID:21969494 RDientsmann 01/16 THYM TRUE Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Thymic KIT mutation in exon 9,11,13,14 or 17 KIT MUT KIT:550-592,627-664 BCR-ABL inhibitor 2nd gen Nilotinib Responsive Early trials PMID:22068222;PMID:25695690 RDientsmann 01/16 CM TRUE Nilotinib (BCR-ABL inhibitor 2nd gen) Cutaneous melanoma KIT mutation in exon 17 KIT MUT KIT:788-828 BCR-ABL inhibitor 2nd gen Nilotinib Responsive Early trials PMID:22119758;PMID:21456006 RDientsmann 01/16 GIST TRUE Nilotinib (BCR-ABL inhibitor 2nd gen) Gastrointestinal stromal KIT (D820Y) KIT MUT KIT:D820Y BCR-ABL inhibitor 2nd gen Nilotinib Responsive Case report PMID:25695690 RDientsmann 01/16 CM TRUE Nilotinib (BCR-ABL inhibitor 2nd gen) Cutaneous melanoma KIT (788-828,829-860,550-592) KIT MUT KIT:788-828,829-860,550-592 BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor Ponatinib Responsive Early trials ASCO 2015 (abstr 10517);PMID:25239608;ASCO 2015 (abstr 10535) RDientsmann 01/16 GIST TRUE Ponatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor) Gastrointestinal stromal KIT (A829P,V654A,T670I) KIT MUT KIT:A829P,V654A,T670I BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor Ponatinib Responsive Pre-clinical PMID:25239608 RDientsmann GIST TRUE Ponatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor) Gastrointestinal stromal KIT mutation in exon 9,11,13,14 or 17 KIT MUT KIT:449-514,550-592,627-664,664-714,788-828 Approved Pan-kinase inhibitor Regorafenib Responsive FDA guidelines FDA RDientsmann GIST TRUE Exon 9,11,14,17 Regorafenib (Pan-kinase inhibitor) Gastrointestinal stromal KIT inframe deletion (577-579) KIT MUT KIT::consequence::inframe_deletion:577-579 Pan-TK inhibitor Sorafenib Responsive Case report PMID:20970876 RDientsmann 01/16 THYM TRUE Sorafenib (Pan-TK inhibitor) Thymic KIT wildtype KIT MUT KIT::wildtype:. Pan-TK inhibitor Sorafenib Responsive Early trials ASCO 2011 (abstr 10009) RDientsmann 01/16 GIST TRUE Sorafenib (Pan-TK inhibitor) Gastrointestinal stromal KIT mutation in exon 9 or 11 KIT MUT KIT:550-592,449-514 Pan-TK inhibitor Sorafenib Responsive Early trials PMID:22270258 RDientsmann 01/16 GIST TRUE Sorafenib (Pan-TK inhibitor) Gastrointestinal stromal KIT (550-592,627-664,788-828,829-860) KIT MUT KIT:550-592,627-664,788-828,829-860 Pan-TK inhibitor Sorafenib Responsive Case report PMID:18936790;PMID:20372153 RDientsmann 01/16 CM TRUE Sorafenib (Pan-TK inhibitor) Cutaneous melanoma KIT mutation in exon 17 KIT MUT KIT:788-828 Pan-TK inhibitor Sorafenib Responsive Pre-clinical PMID:23840364 RDientsmann 01/16 GIST TRUE Sorafenib (Pan-TK inhibitor) Gastrointestinal stromal KIT (D820E) KIT MUT KIT:D820E Pan-TK inhibitor Sorafenib Responsive Case report PMID:19461405 RDientsmann 01/16 THYM TRUE Sorafenib (Pan-TK inhibitor) Thymic KIT wildtype KIT MUT KIT::wildtype:. Pan-TK inhibitor Sunitinib Responsive Late trials PMID:18955458 RDientsmann 01/16 GIST TRUE Sunitinib (Pan-TK inhibitor) Gastrointestinal stromal KIT mutation in exon 9,11,13,14 or 17 KIT MUT KIT:449-514,550-592,627-664,664-714,788-828 Approved Pan-TK inhibitor Sunitinib Responsive FDA guidelines FDA RDientsmann GIST TRUE Sunitinib (Pan-TK inhibitor) Gastrointestinal stromal ALK amplification ALK CNA ALK:amp ALK inhibitor Crizotinib Resistant Case report PMID:22277784 RDientsmann LUAD TRUE Crizotinib (ALK inhibitor) Lung adenocarcinoma KIT mutation in exon 9,11,13,14 or 17 KIT MUT KIT:550-592,627-664 Pan-TK inhibitor Sunitinib Responsive Late trials PMID:18421059;PMID:21642685;PMID:21690468;PMID:22261812 RDientsmann 01/16 CM TRUE Sunitinib (Pan-TK inhibitor) Cutaneous melanoma ALK (C1156Y,L1196M) ALK MUT ALK:C1156Y,L1196M Approved ALK inhibitor Crizotinib Resistant Case report PMID:20979473 EArriola 09/15 NSCLC TRUE Crizotinib (ALK inhibitor) Non-small cell lung ALK (F1174L) ALK MUT ALK:F1174L ALK inhibitor Crizotinib Resistant Pre-clinical PMID:22072639 RDientsmann G TRUE Crizotinib (ALK inhibitor) Glioma KIT (H697Y) KIT MUT KIT:H697Y Pan-TK inhibitor Sunitinib Responsive Pre-clinical PMID:19861435 RDientsmann 01/16 THYM TRUE Sunitinib (Pan-TK inhibitor) Thymic KIT (H697Y) KIT MUT KIT:H697Y Pan-TK inhibitor Sunitinib Responsive Pre-clinical PMID:19861435 RDientsmann THYM TRUE Sunitinib (Pan-TK inhibitor) Thymic KIT (Y553N) KIT MUT KIT:Y553N Pan-TK inhibitor Sunitinib Responsive Case report PMID:23375402 RDientsmann 01/16 THYM TRUE Sunitinib (Pan-TK inhibitor) Thymic KRAS (12,13,59,61,117,146) KRAS MUT KRAS:.12.,.13.,.59.,.61.,.117.,.146. Approved EGFR mAb inhibitor Panitumumab Resistant FDA guidelines FDA guidelines CRubio-Perez;RDientsmann COREAD TRUE Panitumumab (EGFR mAb inhibitor) Colorectal adenocarcinoma KRAS (G12) KRAS MUT KRAS:G12. BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Resistant Case report PMID:24687822 RDientsmann GIST TRUE Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Gastrointestinal stromal KRAS oncogenic mutation KRAS MUT KRAS:. Approved EGFR mAb inhibitor Panitumumab Resistant NCCN guidelines NCCN guidelines RDientsmann COREAD TRUE Panitumumab (EGFR mAb inhibitor) Colorectal adenocarcinoma KRAS oncogenic mutation KRAS MUT KRAS:. Approved EGFR mAb inhibitor Cetuximab Resistant NCCN guidelines NCCN guidelines RDientsmann COREAD TRUE Cetuximab (EGFR mAb inhibitor) Colorectal adenocarcinoma ALK (L1196M,L1152R,C1156Y,F1174L,G1202R,S1206Y,G1269A,I1171T) ALK MUT ALK:L1196M,L1152R,C1156Y,F1174L,G1202R,S1206Y,G1269A,I1171T ALK inhibitor Crizotinib Resistant Case report PMID:22277784;PMID:25228534 RDientsmann LUAD TRUE Crizotinib (ALK inhibitor) Lung adenocarcinoma MET (Y1230C,Y1235D) MET MUT MET:Y1230C,Y1235D ALK inhibitor Crizotinib Resistant Pre-clinical PMID:17483355 RDientsmann CANCER TRUE Crizotinib (ALK inhibitor) Any cancer type KRAS oncogenic mutation KRAS MUT KRAS:. [EGFR inhibitor] [] Resistant NCCN guidelines NCCN guidelines RDientsmann L TRUE EGFR inhibitors Lung KRAS oncogenic mutation KRAS MUT KRAS:. ERBB2 mAb inhibitor;ERBB2 inhibitor Trastuzumab;Lapatinib Resistant Late trials ASCO 2015 (abstr 3508);NCT01104571;EBCC10 RDientsmann 01/16 COREAD TRUE Trastuzumab + Lapatinib (ERBB2 mAb inhibitor + ERBB2 inhibitor) Colorectal adenocarcinoma ROS1 (G2032R) ROS1 MUT ROS1:G2032R Approved ALK inhibitor Crizotinib Resistant Case report PMID:23724914;PMID:25688157 RDientsmann LUAD TRUE Crizotinib (ALK inhibitor) Lung adenocarcinoma ROS1 (S1986Y,S1986F) ROS1 MUT ROS1:S1986Y,S1986F ALK inhibitor Crizotinib Resistant Case report PMID:27401242 RDientsmann 07/17 LUAD TRUE Crizotinib (ALK inhibitor) Lung adenocarcinoma KRAS oncogenic mutation KRAS MUT KRAS:. [BET inhibitor] [] Responsive Pre-clinical PMID:23129625;PMID:24045185 RDientsmann 04/16 L TRUE BET inhibitors Lung KRAS oncogenic mutation KRAS MUT KRAS:. [CDK4 inhibitor] [] Responsive Pre-clinical PMID:20609353 RDientsmann 04/16 L TRUE CDK4 inhibitors Lung KRAS oncogenic mutation KRAS MUT KRAS:. [CDK4/6 inhibitor;MEK inhibitor] [] Responsive Early trials AACR 2017 (CT046) RDientsmann 07/17 L TRUE CDK4/6 inhibitor + MEK inhibitors Lung KRAS oncogenic mutation KRAS MUT KRAS:. [CDK4/6 inhibitor;MEK inhibitor] [] Responsive Pre-clinical PMID:27167191 RDientsmann 07/17 CESC TRUE CDK4/6 inhibitor + MEK inhibitors Cervix squamous cell KRAS oncogenic mutation KRAS MUT KRAS:. [EGFR mAb inhibitor;MEK inhibitor] [] Responsive Pre-clinical PMID:24553387 RDientsmann 01/16 COREAD TRUE EGFR mAb inhibitor + MEK inhibitors Colorectal adenocarcinoma KRAS oncogenic mutation KRAS MUT KRAS:. [ERK inhibitor] [] Responsive Pre-clinical PMID:23614898 RDientsmann 01/16 COREAD TRUE ERK inhibitors Colorectal adenocarcinoma KRAS oncogenic mutation KRAS MUT KRAS:. [FAK inhibitor] [] Responsive Pre-clinical PMID:23358651 RDientsmann 04/16 L TRUE FAK inhibitors Lung KRAS oncogenic mutation KRAS MUT KRAS:. [FAS inhibitor] [] Responsive Case report AACR 2016;abstr RDientsmann 04/16 L TRUE FAS inhibitors Lung KRAS oncogenic mutation KRAS MUT KRAS:. [FAS inhibitor] [] Responsive Case report AACR 2016, abstr LB214 RDientsmann 06/16 L TRUE FAS inhibitors Lung KRAS oncogenic mutation KRAS MUT KRAS:. [HSP90 inhibitor (in combination)] [] Responsive Pre-clinical PMID:23012248;PMID:21907929 RDientsmann 04/16 L TRUE HSP90 inhibitor (in combination)s Lung KRAS oncogenic mutation KRAS MUT KRAS:. [JAK/TBK1/IKKε inhibitor] [] Responsive Pre-clinical PMID:24444711 RDientsmann 04/16 L TRUE JAK/TBK1/IKKε inhibitors Lung KRAS oncogenic mutation KRAS MUT KRAS:. [MEK inhibitor;BCL-XL inhibitor] [] Responsive Pre-clinical PMID:23245996 RDientsmann 01/16 COREAD TRUE MEK inhibitor + BCL-XL inhibitors Colorectal adenocarcinoma KRAS oncogenic mutation KRAS MUT KRAS:. [MEK inhibitor;IGF1R inhibitor] [] Responsive Pre-clinical PMID:24045180 RDientsmann 01/16 COREAD TRUE MEK inhibitor + IGF1R inhibitors Colorectal adenocarcinoma KRAS oncogenic mutation KRAS MUT KRAS:. [MEK inhibitor;PI3K pathway inhibitor] [] Responsive Pre-clinical PMID:22392911 RDientsmann 01/16 COREAD TRUE MEK inhibitor + PI3K pathway inhibitors Colorectal adenocarcinoma ABL1 (V299L,T315A,F317L,F317V,F317I,F317C) ABL1 MUT ABL1:V299L,T315A,F317L,F317V,F317I,F317C Approved BCR-ABL inhibitor 2nd gen Dasatinib Resistant European LeukemiaNet guidelines PMID:21562040 CRubio-Perez 12/15 CML;AML TRUE Has to be rechecked Dasatinib (BCR-ABL inhibitor 2nd gen) Chronic myeloid leukemia;Acute myeloid leukemia KRAS oncogenic mutation KRAS MUT KRAS:. [MEK inhibitor] [] Responsive Early trials PMID:23200175;PMID:24947927;PMID:25667274;PMID:25722381;PMID:23391555 RDientsmann 04/16 L;BT TRUE MEK inhibitors Lung;Billiary tract KRAS oncogenic mutation KRAS MUT KRAS:. [MEK inhibitor] [] Responsive Pre-clinical PMID:22507781;PMID:22169769;PMID:19018267 RDientsmann AML;CER;OV TRUE MEK inhibitors Acute myeloid leukemia;Cervix;Ovary NF1 oncogenic mutation NF1 MUT NF1:. BCR-ABL inhibitor 2nd gen Dasatinib Resistant Pre-clinical PMID:24296828 RDientsmann 07/16 L TRUE Dasatinib (BCR-ABL inhibitor 2nd gen) Lung KRAS (G12) KRAS MUT KRAS:G12. [MEK inhibitor] [] Responsive Pre-clinical PMID:18701506 RDientsmann 01/16 ALL TRUE MEK inhibitors Acute lymphoblastic leukemia NF1 deletion NF1 CNA NF1:del BCR-ABL inhibitor 2nd gen Dasatinib Resistant Pre-clinical PMID:24296828 RDientsmann 07/16 L TRUE Dasatinib (BCR-ABL inhibitor 2nd gen) Lung FGFR2 (V565I,M536I,M538I,I548V,N550,E566G,L618M,K660E) FGFR2 MUT FGFR2:V565I,M536I,M538I,I548V,N550.,E566G,L618M,K660E FGFR inhibitor Dovitinib Resistant Pre-clinical PMID:23908597 RDientsmann ED TRUE Dovitinib (FGFR inhibitor) Endometrium KRAS oncogenic mutation KRAS MUT KRAS:. [MTOR inhibitor;BH3 mimetics] [] Responsive Pre-clinical PMID:24163374 RDientsmann 01/16 COREAD TRUE MTOR inhibitor + BH3 mimeticss Colorectal adenocarcinoma KRAS oncogenic mutation KRAS MUT KRAS:. [pan-RAF inhibitor] [] Responsive Early trials AACR 2017 (abstr CT002) RDientsmann 07/17 L TRUE pan-RAF inhibitors Lung AR (F877L) AR MUT AR:F877L AR inhibitor Enzalutamide Resistant Case report PMID:23779130 RDientsmann;ARodriguez-Vida 09/15 PRAD PRAD TRUE REMAP:F876L to F877L the previous mutation was not found in . transcript to our knowledge. Enzalutamide (AR inhibitor) Prostate adenocarcinoma KRAS oncogenic mutation KRAS MUT KRAS:. [pan-RAF inhibitor] [] Responsive Case report AACR 2016 (abstr CT005);AACR 2017 (abstr CT002) RDientsmann 07/17 ED TRUE pan-RAF inhibitors Endometrium KRAS oncogenic mutation KRAS MUT KRAS:. [PI3K pathway inhibitor;MEK inhibitor] [] Responsive Pre-clinical PMID:21984976;PMID:22662154 RDientsmann 07/17 ED TRUE PI3K pathway inhibitor + MEK inhibitors Endometrium KRAS oncogenic mutation KRAS MUT KRAS:. [PI3K pathway inhibitor;MEK inhibitor] [] Responsive Early trials PMID:25516890 RDientsmann 04/16 L TRUE PI3K pathway inhibitor + MEK inhibitors Lung EGFR amplification EGFR CNA EGFR:amp Approved EGFR inhibitor 1st gen Erlotinib No Responsive Early trials ASCO2015(abstre19028) RDientsmann L TRUE Erlotinib (EGFR inhibitor 1st gen) Lung EGFR (S720) EGFR MUT EGFR:S720. EGFR inhibitor 1st gen Erlotinib No Responsive Case report PMID:26773740 RDientsmann 12/16 L TRUE Erlotinib (EGFR inhibitor 1st gen) Lung KRAS oncogenic mutation KRAS MUT KRAS:. CDK4/6 inhibitor Abemaciclib Responsive Early trials PMID:27217383 RDientsmann;DTamborero;CRubio-Perez 07/17 L TRUE Abemaciclib (CDK4/6 inhibitor) Lung IGF1R amplification IGF1R CNA IGF1R:amp EGFR inhibitor 1st gen Erlotinib Resistant Pre-clinical PMID:24458568 RDientsmann LUAD TRUE Erlotinib (EGFR inhibitor 1st gen) Lung adenocarcinoma NF1 oncogenic mutation NF1 MUT NF1:. EGFR inhibitor 1st gen Erlotinib Resistant Pre-clinical PMID:24535670 RDientsmann 07/16 L TRUE Erlotinib (EGFR inhibitor 1st gen) Lung NF1 deletion NF1 CNA NF1:del EGFR inhibitor 1st gen Erlotinib Resistant Pre-clinical PMID:24535670 RDientsmann 07/16 L TRUE Erlotinib (EGFR inhibitor 1st gen) Lung NF2 oncogenic mutation NF2 MUT NF2:. EGFR inhibitor 1st gen Erlotinib No Responsive Early trials PMID:20736812 RDientsmann 07/16 SCHW TRUE germline Erlotinib (EGFR inhibitor 1st gen) Schwannoma NF2 deletion NF2 CNA NF2:del EGFR inhibitor 1st gen Erlotinib No Responsive Early trials PMID:20736812 RDientsmann 07/16 SCHW TRUE germline Erlotinib (EGFR inhibitor 1st gen) Schwannoma NF2 oncogenic mutation + EGFR oncogenic mutation NF2;EGFR MUT;MUT NF2:.;EGFR:. EGFR inhibitor 1st gen;EGFR mAb inhibitor Erlotinib;Cetuximab Resistant Case report PMID:24813888 RDientsmann 07/16 L TRUE In Egfr Mutant Tumors Erlotinib + Cetuximab (EGFR inhibitor 1st gen + EGFR mAb inhibitor) Lung NF2 deletion + EGFR oncogenic mutation NF2;EGFR CNA;MUT NF2:del;EGFR:. EGFR inhibitor 1st gen;EGFR mAb inhibitor Erlotinib;Cetuximab Resistant Case report PMID:24813888 RDientsmann 07/16 L TRUE In Egfr Mutant Tumors Erlotinib + Cetuximab (EGFR inhibitor 1st gen + EGFR mAb inhibitor) Lung MTOR (F2108L) MTOR MUT MTOR:F2108L MTOR inhibitor Everolimus Resistant Case report PMID:25295501 DTamborero;RDientsmann THCA TRUE Metastatic THCA with superresponse putatively assoiated with TSC2 nonsense mutation developing resistance associated with MTOR mutation after 18months Everolimus (MTOR inhibitor) Thyroid carcinoma MAP2K1 (F129L,L215P,I103N,P124) MAP2K1 MUT MAP2K1:F129L,L215P,I103N,P124. [ERK inhibitor] [] Responsive Pre-clinical PMID:23614898 RDientsmann 01/16 CANCER TRUE ERK inhibitors Any cancer type MAP2K1 (P124) MAP2K1 MUT MAP2K1:P124. [ERK inhibitor] [] Responsive Pre-clinical PMID:25370473 RDientsmann 01/16 CM TRUE ERK inhibitors Cutaneous melanoma NF1 oncogenic mutation NF1 MUT NF1:. MTOR inhibitor Everolimus No Responsive Early trials NCT01365468 RDientsmann 07/16 MPN TRUE germline Everolimus (MTOR inhibitor) Malignant peripheral nerve sheat tumor NF1 deletion NF1 CNA NF1:del MTOR inhibitor Everolimus No Responsive Early trials NCT01365468 RDientsmann 07/16 MPN TRUE germline Everolimus (MTOR inhibitor) Malignant peripheral nerve sheat tumor NF1 oncogenic mutation NF1 MUT NF1:. MTOR inhibitor;VEGFR mAb inhibitor Everolimus;Bevacizumab No Responsive Early trials ASCO 2016 (abstr 11053) RDientsmann 07/16 MPN TRUE germline Everolimus + Bevacizumab (MTOR inhibitor + VEGFR mAb inhibitor) Malignant peripheral nerve sheat tumor MAP2K1 (C121S) MAP2K1 MUT MAP2K1:C121S [novel MEK inhibitor] [] Responsive Pre-clinical PMID:24448821 RDientsmann 01/16 CM TRUE novel MEK inhibitors Cutaneous melanoma MAP2K1 (K57T) MAP2K1 MUT MAP2K1:K57T EGFR mAb inhibitor;MEK inhibitor Panitumumab;Trametinib Responsive Case report PMID:26644315 RDientsmann 04/16 COREAD TRUE Panitumumab + Trametinib (EGFR mAb inhibitor + MEK inhibitor) Colorectal adenocarcinoma MAP2K1 inframe deletion (56-60) MAP2K1 MUT MAP2K1::consequence::inframe_deletion:56-60 MEK inhibitor Selumetinib Responsive Case report PMID:26324360 RDientsmann 01/16 OV TRUE Selumetinib (MEK inhibitor) Ovary MAP2K1 (Q56P) MAP2K1 MUT MAP2K1:Q56P MEK inhibitor Trametinib Responsive Pre-clinical PMID:26582713 RDientsmann 04/16 CANCER TRUE Trametinib (MEK inhibitor) Any cancer type NF1 deletion NF1 CNA NF1:del MTOR inhibitor;VEGFR mAb inhibitor Everolimus;Bevacizumab No Responsive Early trials ASCO 2016 (abstr 11053) RDientsmann 07/16 MPN TRUE germline Everolimus + Bevacizumab (MTOR inhibitor + VEGFR mAb inhibitor) Malignant peripheral nerve sheat tumor MAP2K1 (P124S,I111S) + BRAF oncogenic mutation MAP2K1;BRAF MUT;MUT MAP2K1:P124S,I111S;BRAF:. [BRAF inhibitor] [] Responsive Case report PMID:22588879 RDientsmann 01/16 CM TRUE BRAF inhibitors Cutaneous melanoma NF1 oncogenic mutation NF1 MUT NF1:. MTOR inhibitor;EGFR inhibitor 1st gen Everolimus;Erlotinib No Responsive Case report PMID:24634382 RDientsmann 07/16 G TRUE Everolimus + Erlotinib (MTOR inhibitor + EGFR inhibitor 1st gen) Glioma NF1 deletion NF1 CNA NF1:del MTOR inhibitor;EGFR inhibitor 1st gen Everolimus;Erlotinib No Responsive Case report PMID:24634382 RDientsmann 07/16 G TRUE Everolimus + Erlotinib (MTOR inhibitor + EGFR inhibitor 1st gen) Glioma ESR1 oncogenic mutation ESR1 MUT ESR1:. Hormonal therapy Exemestane Resistant Late trials PMID:27269946 RDientsmann 06/16 BRCA TRUE Exemestane (Hormonal therapy) Breast adenocarcinoma AR (T878A) AR MUT AR:T878A AR inhibitor Flutamide Resistant Case report PMID:2260966 RDientsmann;ARodriguez-Vida 09/15 PRAD PRAD TRUE REMAP:T877A to T878A the previous mutation was not found in . transcript to our knowledge. Flutamide (AR inhibitor) Prostate adenocarcinoma ESR1 (Y537S) ESR1 MUT ESR1:Y537S Hormonal therapy Fulvestrant Resistant Pre-clinical PMID:27986707 RDientsmann 07/17 BRCA TRUE Fulvestrant (Hormonal therapy) Breast adenocarcinoma MDM2 amplification MDM2 CNA MDM2:amp [MDM2 inhibitor] [] Responsive Early trials PMID:23084521;ASCO 2015 (abstr 10564) RDientsmann 01/16 LIP TRUE MDM2 inhibitors Liposarcoma EGFR inframe deletion (L747),inframe insertion (P753PS) EGFR MUT EGFR::consequence::inframe_deletion:L747.,::inframe_insertion:P753PS Approved EGFR inhibitor 1st gen Gefitinib No Responsive Case report PMID:21274259 RDientsmann HNC TRUE Gefitinib (EGFR inhibitor 1st gen) Head an neck MDM4 amplification MDM4 CNA MDM4:amp [MDM2/MDMX inhibitor] [] Responsive Pre-clinical PMID:24336067 RDientsmann S TRUE MDM2/MDMX inhibitors Sarcoma EGFR amplification EGFR CNA EGFR:amp Approved EGFR inhibitor 1st gen Gefitinib No Responsive Early trials PMID:21274259;PMID:22261807 RDientsmann HNC TRUE Gefitinib (EGFR inhibitor 1st gen) Head an neck MET kinase domain mutation MET MUT MET:1078-1345 MET inhibitor Savolitinib Responsive Early trials PMID:28644771 RDientsmann 07/17 R TRUE Savolitinib (MET inhibitor) Renal MET amplification MET CNA MET:amp [BCL2 inhibitor] [] Responsive Pre-clinical PMID:27397505 RDientsmann 07/16 COREAD TRUE BCL2 inhibitors Colorectal adenocarcinoma EGFR (V843I) EGFR MUT EGFR:V843I Approved EGFR inhibitor 1st gen Gefitinib No Responsive Case report PMID:21274259 RDientsmann HNC TRUE Gefitinib (EGFR inhibitor 1st gen) Head an neck SLC29A1 oncogenic mutation SLC29A1 MUT SLC29A1:. Chemotherapy Gemcitabine Resistant Pre-clinical PMID:21166756 ARodriguez-Vida 09/15 BLCA BLCA TRUE SLC29A1 is HENT1 used symbol Gemcitabine (Chemotherapy) Bladder MET amplification MET CNA MET:amp [MET inhibitor] [] Responsive Case report ENA 2015 (abstract A55) RDientsmann 01/16 HC TRUE MET inhibitors Hepatic carcinoma MET amplification MET CNA MET:amp [MET inhibitor] [] Responsive Pre-clinical PMID:22729845;PMID:23327903 RDientsmann 01/16 ST TRUE MET inhibitors Stomach MET amplification MET CNA MET:amp [MET inhibitor] [] Responsive Early trials PMID:23213094;AACR 2016 (abstr CT2006) RDientsmann 06/16 R TRUE MET inhibitors Renal BTK (C481) BTK MUT BTK:C481. BTK inhibitor Ibrutinib Resistant Case report PMID:25082755 RDientsmann MCL TRUE Ibrutinib (BTK inhibitor) Mantle cell lymphoma MET (H1112R) MET MUT MET:H1112R [MET inhibitor] [] Responsive Early trials PMID:23213094 RDientsmann 01/16 R TRUE REMAP:H1094r changed to H1112R MET inhibitors Renal MET (M1268T) MET MUT MET:M1268T [MET inhibitor] [] Responsive Case report PMID:23610116 RDientsmann 01/16 R TRUE MET inhibitors Renal MET (H1112L) MET MUT MET:H1112L [MET inhibitor] [Crizotinib] Responsive Pre-clinical AACR 2012 (abstr 1786) RDientsmann CANCER TRUE MET inhibitors (Crizotinib,etc) Any cancer type MET amplification MET CNA MET:amp Clinical Trials Pan-kinase inhibitor;EGFR mAb inhibitor Cabozantinib;Panitumumab Responsive Case report ENA 2015 (abstr A52) RDientsmann 11/15 COREAD TRUE Cabozantinib + Panitumumab (Pan-kinase inhibitor + EGFR mAb inhibitor) Colorectal adenocarcinoma MET fusion MET FUS MET__. ALK inhibitor Crizotinib Responsive Case report PMID:27748748 RDientsmann 12/16 G TRUE Crizotinib (ALK inhibitor) Glioma MET mutation in exon 16-19 MET MUT MET:1132-1330 ALK inhibitor Crizotinib Responsive Early trials AACR 2016 (abstr CT2006) RDientsmann 06/16 R TRUE EXON 16-19 Crizotinib (ALK inhibitor) Renal MET amplification MET CNA MET:amp Clinical Trials ALK inhibitor Crizotinib Responsive Early trials NCT02499614;ASCO 2015 (abstr 2595) EArriola;CRubio-Perez 01/16 NSCLC TRUE Crizotinib (ALK inhibitor) Non-small cell lung MET amplification MET CNA MET:amp ALK inhibitor Crizotinib Responsive Early trials ASCO 2014 (abstr 8001);ASCO 2015 (abstr 2595);ASCO GI 2015 (abstr 1) RDientsmann 01/16 LUAD;ST TRUE Crizotinib (ALK inhibitor) Lung adenocarcinoma;Stomach MET amplification MET CNA MET:amp ALK inhibitor Crizotinib Responsive Case report PMID:22162573 RDientsmann 01/16 G TRUE Crizotinib (ALK inhibitor) Glioma MET (V1110I,H1112R,M1268T,R988C,T1010I) MET MUT MET:V1110I,H1112R,M1268T,R988C,T1010I ALK inhibitor Crizotinib Responsive Pre-clinical PMID:17483355 RDientsmann CANCER TRUE REMAP:H1094R changed to H1112R, v1092i changed to v1110i (all mutations annotated in same transcript ENST00000318493; these mutations where from ENST00000397752) Crizotinib (ALK inhibitor) Any cancer type BTK (C481S) BTK MUT BTK:C481S BTK inhibitor Ibrutinib Resistant Early trials PMID:24869598;PMID:27199251 RDientsmann CLL TRUE Ibrutinib (BTK inhibitor) Chronic lymphocytic leukemia PLCG2 (R665W,L845F) PLCG2 MUT PLCG2:R665W,L845F Approved BTK inhibitor Ibrutinib Resistant Early trials PMID:24869598 RDientsmann CLL TRUE Ibrutinib (BTK inhibitor) Chronic lymphocytic leukemia ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) ABL1 MUT ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G Approved BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Resistant European LeukemiaNet guidelines PMID:21562040 CRubio-Perez 12/15 CML TRUE Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Chronic myeloid leukemia MET amplification + BRAF (V600E) MET;BRAF CNA;MUT MET:amp;BRAF:V600E ALK inhibitor;BRAF inhibitor Crizotinib;Vemurafenib Responsive Case report PMID:27325282 RDientsmann 12/16 COREAD TRUE Crizotinib + Vemurafenib (ALK inhibitor + BRAF inhibitor) Colorectal adenocarcinoma KIT wildtype KIT MUT KIT::wildtype:. BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Resistant Late trials PMID:18955458 RDientsmann GIST TRUE Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Gastrointestinal stromal KIT (627-664,664-714,449-514) KIT MUT KIT:627-664,664-714,449-514 BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Resistant Late trials PMID:18955458;PMID:18955451;PMID:16624552 RDientsmann 01/16 GIST TRUE Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Gastrointestinal stromal MET amplification + ERBB2 amplification MET;ERBB2 CNA;CNA MET:amp;ERBB2:amp ALK inhibitor;ERBB2 mAb inhibitor Crizotinib;Trastuzumab Responsive Case report PMID:26432108 RDientsmann 01/16 ST TRUE Crizotinib + Trastuzumab (ALK inhibitor + ERBB2 mAb inhibitor) Stomach MET amplification + ERBB2 amplification MET;ERBB2 CNA;CNA MET:amp;ERBB2:amp ALK inhibitor;ERBB2 mAb inhibitor Crizotinib;Trastuzumab Responsive Case report PMID:26432108 RDientsmann 01/16 ST TRUE Crizotinib + Trastuzumab (ALK inhibitor + ERBB2 mAb inhibitor) Stomach KIT mutation in exon 17 KIT MUT KIT:788-828 BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Resistant Pre-clinical PMID:23840364 RDientsmann 01/16 GIST TRUE Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Gastrointestinal stromal KIT mutation in exon 17 or 18 KIT MUT KIT:788-828,829-860 BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Resistant Early trials PMID:21690468;PMID:21642685 RDientsmann CM TRUE Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Cutaneous melanoma KIT amplification KIT CNA KIT:amp BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib No Responsive Early trials PMID:23775962 RDientsmann CM TRUE Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Cutaneous melanoma KIT (D816) KIT MUT KIT:D816. Approved BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Resistant FDA guidelines FDA CRubio-Perez;DTamborero;RDientsmann GIST;MDS;MDPS;HES;ECL;CML;ALL;SM TRUE Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Gastrointestinal stromal;Myelodisplasic syndrome;Myelodisplasic proliferative syndrome;Hyper eosinophilic advanced snydrome;Eosinophilic chronic leukemia;Chronic myeloid leukemia;Acute lymphoblastic leukemia;Systemic mastocytosis KIT (T670I) KIT MUT KIT:T670I BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Resistant FDA guidelines PMID:24687822 RDientsmann;RShadrina GIST TRUE Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Gastrointestinal stromal MKI67 overexpression MKI67 EXPR MKI67:over Indirect Approved Pan-TK inhibitor Sunitinib Responsive Pre-clinical Cell line PMID:24086736 ARodriguez-Vida 09/15 R TRUE Sunitinib (Pan-TK inhibitor) Renal MLL fusion MLL FUS MLL__. [BET inhibitor] [] Responsive Pre-clinical PMID:21964340 RDientsmann 01/16 AML TRUE BET inhibitors Acute myeloid leukemia MLL fusion MLL FUS MLL__. Indirect Approved HDAC inhibitor Belinostat Responsive Early trials NCT00351975;NCT00357032;PMID:22015773 ECampo;RDientsmann AML TRUE Belinostat (HDAC inhibitor) Acute myeloid leukemia MLL fusion MLL FUS MLL__. Approved Chemotherapy Daunorubicin Responsive FDA guidelines PMID:22417203 RDientsmann AML TRUE Daunorubicin (Chemotherapy) Acute myeloid leukemia MLL fusion MLL FUS MLL__. Indirect Clinical Trials DOTL1 inhibitor EPZ-5676 Responsive Early trials NCT02141828;NCT01684150;PMID:21741596 ECampo;RDientsmann AML;ALL;MDS TRUE EPZ-5676 (DOTL1 inhibitor) Acute myeloid leukemia;Acute lymphoblastic leukemia;Myelodisplasic syndrome MLL2 oncogenic mutation MLL2 MUT MLL2:. AR inhibitor Bicalutamide Responsive Pre-clinical PMID:27397505 RDientsmann 07/16 LUSC TRUE Bicalutamide (AR inhibitor) Lung squamous cell MPL (W515F) MPL MUT MPL:W515F [JAK inhibitor] [] Responsive Pre-clinical PMID:16834459 RDientsmann MDPS TRUE JAK inhibitors Myelodisplasic proliferative syndrome MSH3 oncogenic mutation MSH3 MUT MSH3:. [DNA-PKc inhibitor] [] Responsive Pre-clinical PMID:24556366 RDientsmann CANCER TRUE DNA-PKc inhibitors Any cancer type MTOR (F2108L) MTOR MUT MTOR:F2108L [MTOR kinase inhibitor] [] Responsive Pre-clinical PMID:25295501 RDientsmann 01/16 CANCER TRUE MTOR kinase inhibitors Any cancer type MTOR (E2014K,E2419K,N1421D) MTOR MUT MTOR:E2014K,E2419K,N1421D MTOR inhibitor Everolimus Responsive Case report PMID:24625776 RDientsmann 01/16 BLCA TRUE Everolimus (MTOR inhibitor) Bladder KIT (V559I,H697Y,T670,V654A,A829P,D816,N822,Y823D) KIT MUT KIT:V559I,H697Y,T670.,V654A,A829P,D816.,N822.,Y823D BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Resistant Pre-clinical PMID:23582185;PMID:21689725;PMID:17259998 RDientsmann GIST TRUE Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Gastrointestinal stromal MTOR (I1973F) MTOR MUT MTOR:I1973F MTOR inhibitor Everolimus Responsive Case report ASCO 2015 (abstr 11010);PMID:26859683 RDientsmann 06/16 AS;R TRUE Everolimus (MTOR inhibitor) Angiosarcoma;Renal MTOR (K1771R) MTOR MUT MTOR:K1771R MTOR inhibitor Everolimus Responsive Case report ASCO 2015 (abstr 11010);PMID:26859683 RDientsmann 01/16 ST;AG TRUE Everolimus (MTOR inhibitor) Stomach;Anaplastic oligodendroglioma MTOR (N1421D) MTOR MUT MTOR:N1421D MTOR inhibitor Everolimus Responsive Case report PMID:26859683 RDientsmann 06/16 ST TRUE Everolimus (MTOR inhibitor) Stomach MTOR (Q2223K) MTOR MUT MTOR:Q2223K MTOR inhibitor Everolimus Responsive Case report PMID:24622468 RDientsmann 01/16 R TRUE Everolimus (MTOR inhibitor) Renal MTOR (L1460P,S2215Y,R2505P) MTOR MUT MTOR:L1460P,S2215Y,R2505P MTOR inhibitor Sirolimus Responsive Pre-clinical PMID:24631838 RDientsmann CANCER TRUE Sirolimus (MTOR inhibitor) Any cancer type MYC amplification MYC CNA MYC:amp [BET inhibitor] [] Responsive Pre-clinical PMID:21889194;PMID:23430699 RDientsmann MYMA;NB TRUE BET inhibitors Myeloma;Neuroblastoma MYC amplification MYC CNA MYC:amp [CDK7 inhibitor] [] Responsive Pre-clinical PMID:25416950 RDientsmann NB TRUE CDK7 inhibitors Neuroblastoma MYC amplification MYC CNA MYC:amp [FACT inhibitor] [] Responsive Pre-clinical PMID:26537256 RDientsmann 11/15 NB TRUE FACT inhibitors Neuroblastoma MYC amplification MYC CNA MYC:amp [PIM inhibitor] [] Responsive Pre-clinical PMID:25505253 RDientsmann PRAD TRUE PIM inhibitors Prostate adenocarcinoma MYC amplification MYC CNA MYC:amp Chemotherapy Temozolomide Responsive Pre-clinical PMID:27397505 RDientsmann 07/16 COREAD TRUE Temozolomide (Chemotherapy) Colorectal adenocarcinoma KRAS oncogenic mutation KRAS MUT KRAS:. Chemotherapy;BCL2 inhibitor Decitabine;BCL2 inhibitor Responsive Pre-clinical PMID:25968887 RDientsmann 01/16 OV TRUE Decitabine + BCL2 inhibitor (Chemotherapy + BCL2 inhibitor) Ovary MYD88 (L265P) MYD88 MUT MYD88:L265P BTK inhibitor Ibrutinib Responsive FDA guidelines PMID:25853747 RDientsmann 12/16 WM TRUE Ibrutinib (BTK inhibitor) Waldenström macroglobulinemia NF1 oncogenic mutation NF1 MUT NF1:. [AURK inhibitor] [] Responsive Pre-clinical PMID:24373973 RDientsmann 07/16 MPN TRUE germline AURK inhibitors Malignant peripheral nerve sheat tumor NF1 deletion NF1 CNA NF1:del [AURK inhibitor] [] Responsive Pre-clinical PMID:24373973 RDientsmann 07/16 MPN TRUE germline AURK inhibitors Malignant peripheral nerve sheat tumor NF1 oncogenic mutation NF1 MUT NF1:. [BRD4 inhibitor] [] Responsive Pre-clinical PMID:24373973 RDientsmann 07/16 MPN TRUE germline BRD4 inhibitors Malignant peripheral nerve sheat tumor NF1 deletion NF1 CNA NF1:del [BRD4 inhibitor] [] Responsive Pre-clinical PMID:24373973 RDientsmann 07/16 MPN TRUE germline BRD4 inhibitors Malignant peripheral nerve sheat tumor NF1 oncogenic mutation NF1 MUT NF1:. [KIT inhibitor;MTOR inhibitor] [] Responsive Pre-clinical PMID:24718867 RDientsmann 07/16 MPN TRUE germline KIT inhibitor + MTOR inhibitors Malignant peripheral nerve sheat tumor NF1 deletion NF1 CNA NF1:del [KIT inhibitor;MTOR inhibitor] [] Responsive Pre-clinical PMID:24718867 RDientsmann 07/16 MPN TRUE germline KIT inhibitor + MTOR inhibitors Malignant peripheral nerve sheat tumor NF1 oncogenic mutation NF1 MUT NF1:. [MEK inhibitor] [] Responsive Pre-clinical PMID:23221341 RDientsmann 07/16 MPN TRUE MEK inhibitors Malignant peripheral nerve sheat tumor NF1 oncogenic mutation NF1 MUT NF1:. [MEK inhibitor] [] Responsive Pre-clinical PMID:22573716;PMID:19727076 RDientsmann 07/16 G;LK TRUE MEK inhibitors Glioma;Leukemia NF1 deletion NF1 CNA NF1:del [MEK inhibitor] [] Responsive Pre-clinical PMID:23221341 RDientsmann 07/16 MPN TRUE MEK inhibitors Malignant peripheral nerve sheat tumor NF1 deletion NF1 CNA NF1:del [MEK inhibitor] [] Responsive Pre-clinical PMID:22573716;PMID:19727076 RDientsmann 07/16 G;LK TRUE MEK inhibitors Glioma;Leukemia NF1 oncogenic mutation NF1 MUT NF1:. [MTOR inhibitor;HSP90 inhibitor] [] Responsive Pre-clinical PMID:21907929 RDientsmann 07/16 MPN TRUE germline MTOR inhibitor + HSP90 inhibitors Malignant peripheral nerve sheat tumor NF1 deletion NF1 CNA NF1:del [MTOR inhibitor;HSP90 inhibitor] [] Responsive Pre-clinical PMID:21907929 RDientsmann 07/16 MPN TRUE germline MTOR inhibitor + HSP90 inhibitors Malignant peripheral nerve sheat tumor NF1 oncogenic mutation NF1 MUT NF1:. [MTOR inhibitor] [] Responsive Pre-clinical PMID:19573811;PMID:18483311;PMID:20505189;PMID:24509877 RDientsmann 07/16 G;MPN;LK TRUE MTOR inhibitors Glioma;Malignant peripheral nerve sheat tumor;Leukemia NF1 deletion NF1 CNA NF1:del [MTOR inhibitor] [] Responsive Pre-clinical PMID:19573811;PMID:18483311;PMID:20505189;PMID:24509877 RDientsmann 07/16 G;MPN;LK TRUE MTOR inhibitors Glioma;Malignant peripheral nerve sheat tumor;Leukemia NF1 oncogenic mutation NF1 MUT NF1:. [Pan-RAF inhibitor;MEK inhibitor] [] Responsive Pre-clinical PMID:26351322 RDientsmann 07/16 CM TRUE Pan-RAF inhibitor + MEK inhibitors Cutaneous melanoma NF1 deletion NF1 CNA NF1:del [Pan-RAF inhibitor;MEK inhibitor] [] Responsive Pre-clinical PMID:26351322 RDientsmann 07/16 CM TRUE Pan-RAF inhibitor + MEK inhibitors Cutaneous melanoma NF1 oncogenic mutation NF1 MUT NF1:. [PD1 Ab inhibitor] [] Responsive Early trials ASCO 2016 (abstr 105) RDientsmann 07/16 CM TRUE PD1 Ab inhibitors Cutaneous melanoma NF1 deletion NF1 CNA NF1:del [PD1 Ab inhibitor] [] Responsive Early trials ASCO 2016 (abstr 105) RDientsmann 07/16 CM TRUE , PD1 expression higher in NF1 mutant melanoma (PMID 26960397) PD1 Ab inhibitors Cutaneous melanoma PDGFRA wildtype PDGFRA MUT PDGFRA::wildtype:. BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Resistant Late trials PMID:14645423;PMID:18955458 RDientsmann GIST TRUE Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Gastrointestinal stromal PDGFRA (D842V) PDGFRA MUT PDGFRA:D842V BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Resistant Late trials,Pre-clinical PMID:22718859;PMID:16638875 RDientsmann 01/16 GIST TRUE Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Gastrointestinal stromal NF1 oncogenic mutation NF1 MUT NF1:. VEGFR mAb inhibitor Bevacizumab Responsive Case report PMID:24232489;PMID:2485933 RDientsmann 07/16 G TRUE germline Bevacizumab (VEGFR mAb inhibitor) Glioma NF1 deletion NF1 CNA NF1:del VEGFR mAb inhibitor Bevacizumab Responsive Case report PMID:24232489;PMID:2485933 RDientsmann 07/16 G TRUE germline Bevacizumab (VEGFR mAb inhibitor) Glioma PDGFRA (T674I) PDGFRA MUT PDGFRA:T674I BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Resistant Case report PMID:12660384 RDientsmann HES TRUE Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Hyper eosinophilic advanced snydrome ERBB2 (K753E) ERBB2 MUT ERBB2:K753E ERBB2 inhibitor Lapatinib Resistant Pre-clinical PMID:27697991 RDientsmann 12/16 BRCA TRUE Lapatinib (ERBB2 inhibitor) Breast adenocarcinoma MET amplification + ERBB2 amplification MET;ERBB2 CNA;CNA MET:amp;ERBB2:amp ERBB2 inhibitor Lapatinib Resistant Pre-clinical PMID:22238368 RDientsmann 01/16 ST TRUE Lapatinib (ERBB2 inhibitor) Stomach NTRK1 (G595R) NTRK1 MUT NTRK1:G595R TRK Kinase Inhibitor Larotrectinib Resistant Pre-clinical PMID:28578312 RDientsmann 07/17 CANCER TRUE Larotrectinib (TRK Kinase Inhibitor) Any cancer type NTRK3 (G623R) NTRK3 MUT NTRK3:G623R TRK Kinase Inhibitor Larotrectinib Resistant Pre-clinical PMID:28578312 RDientsmann 07/17 CANCER TRUE Larotrectinib (TRK Kinase Inhibitor) Any cancer type CRBN oncogenic mutation CRBN MUT CRBN:. Immunomodulator Lenalidomide Resistant Case report PMID:25108355 DTamborero MYMA TRUE . other mutation disrupting IMID - CRBN or CRBN - ubiqutin complex may confer IMiD resistance Lenalidomide (Immunomodulator) Myeloma CRBN (Q100*,R283K) CRBN MUT CRBN:Q100*,R283K Immunomodulator Lenalidomide Resistant Case report PMID:23480694 DTamborero MYMA TRUE REMAP:Q99 changed to Q100 (meaning that i change from ENSTENST00000432408 to ENST00000231948) (chr3:g.3195747C>T chr3:g.3215822G>A) Lenalidomide (Immunomodulator) Myeloma NF1 oncogenic mutation NF1 MUT NF1:. MTOR inhibitor Everolimus Responsive Case report PMID:26859683;ASCO 2016 (abstr e17557) RDientsmann 07/16 HNC;SG TRUE Everolimus (MTOR inhibitor) Head an neck;Salivary glands NF1 oncogenic mutation NF1 MUT NF1:. Indirect Approved MTOR inhibitor Everolimus Responsive Late trials NCT01365468 MMartínez 09/15 NF TRUE benign Everolimus (MTOR inhibitor) Neurofibroma NF1 (D1644A) NF1 MUT NF1:D1644A MTOR inhibitor Everolimus Responsive Case report ASCO 2015 (abstr 11010);PMID:26859683 RDientsmann 06/16 HNC TRUE Everolimus (MTOR inhibitor) Head an neck CRBN undexpression CRBN EXPR CRBN:under Immunomodulator Lenalidomide Resistant Case report PMID:21860026 DTamborero MYMA TRUE several manuscripts reporting that the IMiD resistant patients exhibit lower CRBN expression Lenalidomide (Immunomodulator) Myeloma NF1 deletion NF1 CNA NF1:del MTOR inhibitor Everolimus Responsive Case report PMID:26859683;ASCO 2016 (abstr e17557) RDientsmann 07/16 HNC;SG TRUE Everolimus (MTOR inhibitor) Head an neck;Salivary glands LRP1B oncogenic mutation LRP1B MUT LRP1B:. Chemotherapy Liposomal Doxorubicin Resistant Early trials PMID:22896685 RDientsmann OV TRUE Liposomal Doxorubicin (Chemotherapy) Ovary LRP1B deletion LRP1B CNA LRP1B:del Chemotherapy Liposomal Doxorubicin Resistant Early trials PMID:22896685 RDientsmann OV TRUE Liposomal Doxorubicin (Chemotherapy) Ovary STK11 oncogenic mutation + KRAS oncogenic mutation STK11;KRAS MUT;MUT STK11:.;KRAS:. MEK inhibitor;Chemotherapy MEK inhibitor;Docetaxel Resistant Pre-clinical PMID:22425996 RDientsmann 01/16 LUAD TRUE MEK inhibitor + Docetaxel (MEK inhibitor + Chemotherapy) Lung adenocarcinoma STK11 deletion + KRAS oncogenic mutation STK11;KRAS CNA;MUT STK11:del;KRAS:. MEK inhibitor;Chemotherapy MEK inhibitor;Docetaxel Resistant Pre-clinical PMID:22425996 RDientsmann 01/16 LUAD TRUE MEK inhibitor + Docetaxel (MEK inhibitor + Chemotherapy) Lung adenocarcinoma NF1 oncogenic mutation NF1 MUT NF1:. MTOR inhibitor;VEGFR inhibitor Everolimus;Pazopanib Responsive Case report PMID:24931142 RDientsmann 07/16 HC TRUE Everolimus + Pazopanib (MTOR inhibitor + VEGFR inhibitor) Hepatic carcinoma NF1 oncogenic mutation NF1 MUT NF1:. BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Responsive Early trials PMID:23099009 RDientsmann 07/16 PLEN TRUE germline Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Plexiform neurofibroma NF1 deletion NF1 CNA NF1:del BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Responsive Early trials PMID:23099009 RDientsmann 07/16 PLEN TRUE germline Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Plexiform neurofibroma NF1 oncogenic mutation NF1 MUT NF1:. BCR-ABL inhibitor 2nd gen Nilotinib Responsive Pre-clinical PMID:24173684 RDientsmann 07/16 PLEN;MPN TRUE germline Nilotinib (BCR-ABL inhibitor 2nd gen) Plexiform neurofibroma;Malignant peripheral nerve sheat tumor NF1 deletion NF1 CNA NF1:del BCR-ABL inhibitor 2nd gen Nilotinib Responsive Pre-clinical PMID:24173684 RDientsmann 07/16 PLEN;MPN TRUE germline Nilotinib (BCR-ABL inhibitor 2nd gen) Plexiform neurofibroma;Malignant peripheral nerve sheat tumor NF1 oncogenic mutation NF1 MUT NF1:. Pan-TK inhibitor PLX3397 Responsive Pre-clinical PMID:23099891 RDientsmann 07/16 PLEN TRUE germline PLX3397 (Pan-TK inhibitor) Plexiform neurofibroma NF1 deletion NF1 CNA NF1:del Pan-TK inhibitor PLX3397 Responsive Pre-clinical PMID:23099891 RDientsmann 07/16 PLEN TRUE germline PLX3397 (Pan-TK inhibitor) Plexiform neurofibroma NF1 oncogenic mutation NF1 MUT NF1:. MEK inhibitor Selumetinib Responsive Early trials ASCO 2014 (abstr 10018) RDientsmann 07/16 PLEN TRUE germline Selumetinib (MEK inhibitor) Plexiform neurofibroma NF1 deletion NF1 CNA NF1:del MEK inhibitor Selumetinib Responsive Early trials ASCO 2014 (abstr 10018) RDientsmann 07/16 PLEN TRUE germline Selumetinib (MEK inhibitor) Plexiform neurofibroma NF1 oncogenic mutation NF1 MUT NF1:. MTOR inhibitor Sirolimus Responsive Early trials PMID:25314964 RDientsmann 07/16 PLEN TRUE germline Sirolimus (MTOR inhibitor) Plexiform neurofibroma NF1 deletion NF1 CNA NF1:del MTOR inhibitor Sirolimus Responsive Early trials PMID:25314964 RDientsmann 07/16 PLEN TRUE germline Sirolimus (MTOR inhibitor) Plexiform neurofibroma NF1 oncogenic mutation NF1 MUT NF1:. MTOR inhibitor;EGFR inhibitor 1st gen Sirolimus;Erlotinib Responsive Case report PMID:22434731 RDientsmann 07/16 G TRUE germline, rampamycin = sirolimus Sirolimus + Erlotinib (MTOR inhibitor + EGFR inhibitor 1st gen) Glioma NF1 deletion NF1 CNA NF1:del MTOR inhibitor;EGFR inhibitor 1st gen Sirolimus;Erlotinib Responsive Case report PMID:22434731 RDientsmann 07/16 G TRUE germline, rampamycin = sirolimus Sirolimus + Erlotinib (MTOR inhibitor + EGFR inhibitor 1st gen) Glioma NF1 oncogenic mutation NF1 MUT NF1:. Pan-TK inhibitor;MTOR inhibitor Sorafenib;Sirolimus Responsive Pre-clinical PMID:25810463 RDientsmann 07/16 MPN TRUE germline Sorafenib + Sirolimus (Pan-TK inhibitor + MTOR inhibitor) Malignant peripheral nerve sheat tumor NF1 deletion NF1 CNA NF1:del Pan-TK inhibitor;MTOR inhibitor Sorafenib;Sirolimus Responsive Pre-clinical PMID:25810463 RDientsmann 07/16 MPN TRUE germline Sorafenib + Sirolimus (Pan-TK inhibitor + MTOR inhibitor) Malignant peripheral nerve sheat tumor NF1 oncogenic mutation NF1 MUT NF1:. Hormonal therapy Tamoxifen Responsive Pre-clinical PMID:21075781 RDientsmann 07/16 MPN TRUE germline Tamoxifen (Hormonal therapy) Malignant peripheral nerve sheat tumor NF1 deletion NF1 CNA NF1:del Hormonal therapy Tamoxifen Responsive Pre-clinical PMID:21075781 RDientsmann 07/16 MPN TRUE germline Tamoxifen (Hormonal therapy) Malignant peripheral nerve sheat tumor ERBB2 (T798I) ERBB2 MUT ERBB2:T798I ERBB2 inhibitor Neratinib Resistant Case report PMID:28274957 RDientsmann 07/17 BRCA TRUE Neratinib (ERBB2 inhibitor) Breast adenocarcinoma ABL1 (E255K,E255V,Y253H,F359V,F359C,F359I) ABL1 MUT ABL1:E255K,E255V,Y253H,F359V,F359C,F359I Approved BCR-ABL inhibitor 2nd gen Nilotinib Resistant NCCN guidelines NCCN Guidelines Chronic Myeloid Leukemia 2022;NCCN Guidelines Acute Lymphoblastic Leukemia 2022;PMID:21562040 CRubio-Perez;RShadrina;SDemajo 12/15 CML;ALL TRUE Nilotinib (BCR-ABL inhibitor 2nd gen) Chronic myeloid leukemia;Acute Lymphoblastic Leukemia NF1 oncogenic mutation NF1 MUT NF1:. MEK inhibitor Trametinib Responsive Case report PMID:26936308 RDientsmann 07/16 G TRUE germline Trametinib (MEK inhibitor) Glioma NF1 oncogenic mutation NF1 MUT NF1:. MEK inhibitor Trametinib Responsive Pre-clinical PMID:24576830;PMID:2524381 RDientsmann 07/16 CM TRUE Trametinib (MEK inhibitor) Cutaneous melanoma NF1 deletion NF1 CNA NF1:del MEK inhibitor Trametinib Responsive Case report PMID:26936308 RDientsmann 07/16 G TRUE germline Trametinib (MEK inhibitor) Glioma NF1 deletion NF1 CNA NF1:del MEK inhibitor Trametinib Responsive Pre-clinical PMID:24576830;PMID:2524381 RDientsmann 07/16 CM TRUE Trametinib (MEK inhibitor) Cutaneous melanoma EGFR (C797S) EGFR MUT EGFR:C797S EGFR inhibitor 3rd gen Osimertinib Resistant Early trials PMID:25939061 RDientsmann 07/17 L TRUE Osimertinib (EGFR inhibitor 3rd gen) Lung EGFR (L718) EGFR MUT EGFR:L718. EGFR inhibitor 3rd gen Osimertinib Resistant Early trials ASCO 2017 (abstr 2572) RDientsmann 07/17 L TRUE Osimertinib (EGFR inhibitor 3rd gen) Lung NF1 oncogenic mutation NF1 MUT NF1:. Chemotherapy Vinblastine Responsive Early trials ASCO 2016 (abstr 2019) RDientsmann 07/16 G TRUE germline Vinblastine (Chemotherapy) Glioma NF1 deletion NF1 CNA NF1:del Chemotherapy Vinblastine Responsive Early trials ASCO 2016 (abstr 2019) RDientsmann 07/16 G TRUE germline Vinblastine (Chemotherapy) Glioma NF1 oncogenic mutation NF1 MUT NF1:. Chemotherapy;BCR-ABL inhibitor 2nd gen Vinblastine;Nilotinib Responsive Case report ASCO 2016 (abstr 10555) RDientsmann 07/16 G TRUE germline Vinblastine + Nilotinib (Chemotherapy + BCR-ABL inhibitor 2nd gen) Glioma NF1 deletion NF1 CNA NF1:del Chemotherapy;BCR-ABL inhibitor 2nd gen Vinblastine;Nilotinib Responsive Case report ASCO 2016 (abstr 10555) RDientsmann 07/16 G TRUE germline Vinblastine + Nilotinib (Chemotherapy + BCR-ABL inhibitor 2nd gen) Glioma EGFR (L792) EGFR MUT EGFR:L792. EGFR inhibitor 3rd gen Osimertinib Resistant Early trials ASCO 2017 (abstr 2572) RDientsmann 07/17 L TRUE Osimertinib (EGFR inhibitor 3rd gen) Lung ERBB2 amplification ERBB2 CNA ERBB2:amp Approved 3rd generation EGFR inhibitor Osimertinib Resistant Case report PMID:27252416 EArriola 06/16 LUAD TRUE Osimertinib (3rd generation EGFR inhibitor) Lung adenocarcinoma MET amplification MET CNA MET:amp Approved [EGFR inhibitor 3rd gen] Osimertinib Resistant Case report PMID:27252416 EArriola 06/16 LUAD TRUE EGFR inhibitor 3rd gens (Osimertinib,etc) Lung adenocarcinoma TUBB3 overexpression TUBB3 EXPR TUBB3:over Taxane Paclitaxel Resistant Pre-clinical PMID:23184177 ARodriguez-Vida 09/15 BLCA BLCA TRUE Paclitaxel (Taxane) Bladder CCND1 amplification CCND1 CNA CCND1:amp CDK4/6 inhibitor Palbociclib No Responsive Early trials ASCO 2017 (abstr 9056) RDientsmann 07/17 L TRUE Palbociclib (CDK4/6 inhibitor) Lung CDK4 amplification CDK4 CNA CDK4:amp CDK4/6 inhibitor Palbociclib No Responsive Early trials ASCO 2017 (abstr 9056) RDientsmann 07/17 L TRUE Palbociclib (CDK4/6 inhibitor) Lung NF2 oncogenic mutation NF2 MUT NF2:. [FAK inhibitor] [] Responsive Early trials ENA 2012 (abstr 610) RDientsmann 07/16 MESO TRUE FAK inhibitors Mesothelioma NF2 oncogenic mutation NF2 MUT NF2:. [FAK inhibitor] [] Responsive Pre-clinical PMID:24848258;PMID:24786638 RDientsmann 07/16 MESO;OV TRUE FAK inhibitors Mesothelioma;Ovary NF2 deletion NF2 CNA NF2:del [FAK inhibitor] [] Responsive Early trials ENA 2012 (abstr 610) RDientsmann 07/16 MESO TRUE FAK inhibitors Mesothelioma NF2 deletion NF2 CNA NF2:del [FAK inhibitor] [] Responsive Pre-clinical PMID:24848258;PMID:24786638 RDientsmann 07/16 MESO;OV TRUE FAK inhibitors Mesothelioma;Ovary NF2 oncogenic mutation NF2 MUT NF2:. [HSP90 inhibitor] [] Responsive Pre-clinical PMID:23714726 RDientsmann 07/16 MEN TRUE germline HSP90 inhibitors Meningioma NF2 deletion NF2 CNA NF2:del [HSP90 inhibitor] [] Responsive Pre-clinical PMID:23714726 RDientsmann 07/16 MEN TRUE germline HSP90 inhibitors Meningioma NF2 oncogenic mutation NF2 MUT NF2:. [MEK inhibitor] [] Responsive Pre-clinical PMID:26359368 RDientsmann 07/16 TH TRUE MEK inhibitors Thyroid NF2 deletion NF2 CNA NF2:del [MEK inhibitor] [] Responsive Pre-clinical PMID:26359368 RDientsmann 07/16 TH TRUE MEK inhibitors Thyroid NF2 oncogenic mutation NF2 MUT NF2:. [MTOR inhibitor] [] Responsive Pre-clinical PMID:19451225;PMID:2242646 RDientsmann 07/18 MEN TRUE MTOR inhibitors Meningioma NF2 deletion NF2 CNA NF2:del [MTOR inhibitor] [] Responsive Pre-clinical PMID:19451225;PMID:2242646 RDientsmann 07/17 MEN TRUE MTOR inhibitors Meningioma NF2 oncogenic mutation NF2 MUT NF2:. [PAK inhibitor] [] Responsive Pre-clinical PMID:23960073;PMID:25596744 RDientsmann 07/16 SCHW;MEN TRUE germline PAK inhibitors Schwannoma;Meningioma NF2 deletion NF2 CNA NF2:del [PAK inhibitor] [] Responsive Pre-clinical PMID:23960073;PMID:25596744 RDientsmann 07/16 SCHW;MEN TRUE germline PAK inhibitors Schwannoma;Meningioma NF2 oncogenic mutation NF2 MUT NF2:. [PDK1 inhibitor] [] Responsive Pre-clinical PMID:19359162 RDientsmann 07/16 SCHW TRUE germline PDK1 inhibitors Schwannoma NF2 deletion NF2 CNA NF2:del [PDK1 inhibitor] [] Responsive Pre-clinical PMID:19359162 RDientsmann 07/16 SCHW TRUE germline PDK1 inhibitors Schwannoma NF2 oncogenic mutation NF2 MUT NF2:. HDAC inhibitor AR42 Responsive Pre-clinical PMID:21778190 RDientsmann 07/16 SCHW TRUE germline AR42 (HDAC inhibitor) Schwannoma NF2 oncogenic mutation NF2 MUT NF2:. HDAC inhibitor AR42 Responsive Early trials ASCO 2016 (abstr 2558) RDientsmann 07/16 MEN TRUE germline,minor response AR42 (HDAC inhibitor) Meningioma NF2 deletion NF2 CNA NF2:del HDAC inhibitor AR42 Responsive Pre-clinical PMID:21778190 RDientsmann 07/16 SCHW TRUE germline AR42 (HDAC inhibitor) Schwannoma NF2 deletion NF2 CNA NF2:del HDAC inhibitor AR42 Responsive Early trials ASCO 2016 (abstr 2558) RDientsmann 07/16 MEN TRUE germline,minor response AR42 (HDAC inhibitor) Meningioma NF2 oncogenic mutation NF2 MUT NF2:. VEGFR mAb inhibitor Bevacizumab Responsive Early trials PMID:19587327;PMID:22805104;PMID:26022982 RDientsmann 07/16 SCHW TRUE germline Bevacizumab (VEGFR mAb inhibitor) Schwannoma NF2 deletion NF2 CNA NF2:del VEGFR mAb inhibitor Bevacizumab Responsive Early trials PMID:19587327;PMID:22805104;PMID:26022982 RDientsmann 07/16 SCHW TRUE germline Bevacizumab (VEGFR mAb inhibitor) Schwannoma BRAF (V600E) BRAF MUT BRAF:V600E EGFR mAb inhibitor Panitumumab Resistant Late trials PMID:20619739;PMID:21163703;PMID:23325582 RDientsmann COREAD TRUE Panitumumab (EGFR mAb inhibitor) Colorectal adenocarcinoma EGFR (G465R) EGFR MUT EGFR:G465R EGFR mAb inhibitor Panitumumab Resistant Case report PMID:26059438 RDientsmann 01/16 COREAD TRUE Panitumumab (EGFR mAb inhibitor) Colorectal adenocarcinoma NF2 oncogenic mutation NF2 MUT NF2:. MTOR inhibitor Everolimus Responsive Early trials PMID:24311643;2556735 RDientsmann 07/16 SCHW TRUE germline, minor responsiv Everolimus (MTOR inhibitor) Schwannoma NF2 deletion NF2 CNA NF2:del MTOR inhibitor Everolimus Responsive Early trials PMID:24311643;2556735 RDientsmann 07/16 SCHW TRUE germline, minor responsiv Everolimus (MTOR inhibitor) Schwannoma NF2 oncogenic mutation NF2 MUT NF2:. MTOR inhibitor;Somatostatin analog Everolimus;Octreotide Responsive Pre-clinical PMID:26015296 RDientsmann 07/16 MEN TRUE Everolimus + Octreotide (MTOR inhibitor + Somatostatin analog) Meningioma NF2 deletion NF2 CNA NF2:del MTOR inhibitor;Somatostatin analog Everolimus;Octreotide Responsive Pre-clinical PMID:26015296 RDientsmann 07/16 MEN TRUE Everolimus + Octreotide (MTOR inhibitor + Somatostatin analog) Meningioma NF2 oncogenic mutation NF2 MUT NF2:. BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Responsive Pre-clinical PMID:19509233;PMID:2290085 RDientsmann 07/16 SCHW TRUE germline Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Schwannoma NF2 deletion NF2 CNA NF2:del BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Responsive Pre-clinical PMID:19509233;PMID:2290085 RDientsmann 07/16 SCHW TRUE germline Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Schwannoma NF2 oncogenic mutation NF2 MUT NF2:. ERBB2 inhibitor Lapatinib Responsive Early trials PMID:22844108;NCT00973739 RDientsmann;MMartínez 07/16 SCHW;NF TRUE germline Lapatinib (ERBB2 inhibitor) Schwannoma;Neurofibroma NF2 deletion NF2 CNA NF2:del ERBB2 inhibitor Lapatinib Responsive Early trials PMID:22844108;NCT00973739 RDientsmann;MMartínez 07/16 SCHW;NF TRUE germline Lapatinib (ERBB2 inhibitor) Schwannoma;Neurofibroma NF2 oncogenic mutation NF2 MUT NF2:. MTOR inhibitor;Chemotherapy Tensirolimus;Chemotherapy Responsive Case report PMID:25878190 RDientsmann 07/16 BRCA TRUE Tensirolimus + Chemotherapy (MTOR inhibitor + Chemotherapy) Breast adenocarcinoma NF2 deletion NF2 CNA NF2:del MTOR inhibitor;Chemotherapy Tensirolimus;Chemotherapy Responsive Case report PMID:25878190 RDientsmann 07/16 BRCA TRUE Tensirolimus + Chemotherapy (MTOR inhibitor + Chemotherapy) Breast adenocarcinoma KRAS oncogenic mutation KRAS MUT KRAS:. Chemotherapy;MEK inhibitor Gemcitabine;MEK inhibitor Responsive Early trials PMID:23583440 RDientsmann 01/16 PA TRUE Gemcitabine + MEK inhibitor (Chemotherapy + MEK inhibitor) Pancreas KRAS oncogenic mutation KRAS MUT KRAS:. Clinical Trials MEK inhibitor Selumetinib Responsive Early trials NCT00890825 EArriola 09/15 NSCLC TRUE Selumetinib (MEK inhibitor) Non-small cell lung NOTCH1 activating mutation in Cterm-PEST domain NOTCH1 MUT NOTCH1::consequence::missense_variant:1529-1732,::splice_donor_variant:2245-2536,::splice_acceptor_variant:2245-2536,::stop_gained:2245-2536,::stop_lost:2245-2536,::frameshift_variant:2245-2536 [Gamma secretase inhibitor;CDK4 inhibitor] [] Responsive Pre-clinical PMID:19318552 RDientsmann 01/16 ALL TRUE Gamma secretase inhibitor + CDK4 inhibitors Acute lymphoblastic leukemia NOTCH1 activating mutation in Cterm-PEST domain NOTCH1 MUT NOTCH1::consequence::missense_variant:1529-1732,::splice_donor_variant:2245-2536,::splice_acceptor_variant:2245-2536,::stop_gained:2245-2536,::stop_lost:2245-2536,::frameshift_variant:2245-2536 [Gamma secretase inhibitor;MTOR inhibitor] [] Responsive Pre-clinical PMID:19246562 RDientsmann 01/16 ALL TRUE Gamma secretase inhibitor + MTOR inhibitors Acute lymphoblastic leukemia NOTCH1 fusion NOTCH1 FUS NOTCH1__. [Gamma secretase inhibitor] [] Responsive Pre-clinical PMID:16688224;PMID:23033986 RDientsmann 01/16 ALL TRUE Gamma secretase inhibitors Acute lymphoblastic leukemia NOTCH1 fusion NOTCH1 FUS NOTCH1__. [Gamma secretase inhibitor] [] Responsive Pre-clinical PMID:22101766 RDientsmann BRCA TRUE Gamma secretase inhibitors Breast adenocarcinoma NOTCH1 activating mutation in Cterm-PEST domain NOTCH1 MUT NOTCH1::consequence::missense_variant:1529-1732,::splice_donor_variant:2245-2536,::splice_acceptor_variant:2245-2536,::stop_gained:2245-2536,::stop_lost:2245-2536,::frameshift_variant:2245-2536 [Gamma secretase inhibitor] [] Responsive Early trials ASCO 2006 (abstr 6585) RDientsmann 01/16 ALL TRUE Gamma secretase inhibitors Acute lymphoblastic leukemia NOTCH1 activating mutation in Cterm-PEST domain NOTCH1 MUT NOTCH1::consequence::missense_variant:1529-1732,::splice_donor_variant:2245-2536,::splice_acceptor_variant:2245-2536,::stop_gained:2245-2536,::stop_lost:2245-2536,::frameshift_variant:2245-2536 [Gamma secretase inhibitor] [] Responsive Pre-clinical PMID:15472075;PMID:19778842;PMID:22510873;PMID:23001755 RDientsmann 01/16 ALL TRUE Gamma secretase inhibitors Acute lymphoblastic leukemia NOTCH1 activating mutation in Cterm-PEST domain NOTCH1 MUT NOTCH1::consequence::missense_variant:1529-1732,::splice_donor_variant:2245-2536,::splice_acceptor_variant:2245-2536,::stop_gained:2245-2536,::stop_lost:2245-2536,::frameshift_variant:2245-2536 [Gamma secretase inhibitor] [] Responsive Pre-clinical PMID:25564152 RDientsmann BRCA TRUE Gamma secretase inhibitors Breast adenocarcinoma NOTCH1 oncogenic mutation NOTCH1 MUT NOTCH1:. [Gamma secretase inhibitor] [] Responsive Pre-clinical PMID:22210878 RDientsmann MCL TRUE Gamma secretase inhibitors Mantle cell lymphoma NOTCH1 splice donor variant (2245-2536),splice acceptor variant (2245-2536),stop gained (2245-2536),stop lost (2245-2536),frameshift variant (2245-2536) NOTCH1 MUT NOTCH1::consequence::splice_donor_variant:2245-2536,::splice_acceptor_variant:2245-2536,::stop_gained:2245-2536,::stop_lost:2245-2536,::frameshift_variant:2245-2536 [NOTCH1 inhibitor] [] Responsive Case report PMID:27870570 RDientsmann 07/17 ADCC TRUE NOTCH1 inhibitors Adenoid cystic carcinoma NOTCH1 activating mutation in Cterm-PEST domain NOTCH1 MUT NOTCH1::consequence::missense_variant:1529-1732,::splice_donor_variant:2245-2536,::splice_acceptor_variant:2245-2536,::stop_gained:2245-2536,::stop_lost:2245-2536,::frameshift_variant:2245-2536 Indirect Clinical Trials [Gamma secretase inhibitor] [Ro4929097,Pf-03084014,Mk-0752] Responsive Early trials NCT01703572;NCT01778439; NCT01098344; NCT01981551 ECampo CANCER TRUE Gamma secretase inhibitors (Ro4929097,Pf-03084014,Mk-0752,etc) Any cancer type NOTCH1 activating mutation in Cterm-PEST domain NOTCH1 MUT NOTCH1::consequence::missense_variant:1529-1732,::splice_donor_variant:2245-2536,::splice_acceptor_variant:2245-2536,::stop_gained:2245-2536,::stop_lost:2245-2536,::frameshift_variant:2245-2536 Direct Clinical Trials NOTCH1 inhibitor OMP-52M51 Responsive Early trials NCT01703572;NCT01778439 ECampo CANCER TRUE OMP-52M51 (NOTCH1 inhibitor) Any cancer type NOTCH2 fusion NOTCH2 FUS NOTCH2__. [Gamma secretase inhibitor] [] Responsive Pre-clinical PMID:22101766 RDientsmann BRCA TRUE Gamma secretase inhibitors Breast adenocarcinoma NOTCH2 activating mutation (missense in TAD or truncating in Cterm-PEST domain) NOTCH2 MUT NOTCH2::consequence::splice_donor_variant:2381-2420,::splice_acceptor_variant:2381-2420,::stop_gained:2381-2420,::stop_lost:2381-2420,::frameshift_variant:2381-2420 Direct Clinical Trials Gamma secretase inhibitor Mk-0752 Responsive Early trials PMID:25564152 KKarube;RDientsmann BRCA;AML;ALL TRUE Mk-0752 (Gamma secretase inhibitor) Breast adenocarcinoma;Acute myeloid leukemia;Acute lymphoblastic leukemia NOTCH2 activating mutation (missense in TAD or truncating in Cterm-PEST domain) NOTCH2 MUT NOTCH2::consequence::splice_donor_variant:2381-2420,::splice_acceptor_variant:2381-2420,::stop_gained:2381-2420,::stop_lost:2381-2420,::frameshift_variant:2381-2420 Direct Clinical Trials NOTCH2 inhibitor OMP-59R5 Responsive Early trials NCT01859741;NCT01277146 ECampo SOLID TRUE OMP-59R5 (NOTCH2 inhibitor) Solid tumors NPM1 oncogenic mutation NPM1 MUT NPM1:. [DOT1L inhibitors;MLL1 inhibitors] [] Responsive Pre-clinical PMID:27535106 RDientsmann 12/16 AML TRUE DOT1L inhibitors + MLL1 inhibitors Acute myeloid leukemia NPM1 oncogenic mutation NPM1 MUT NPM1:. Approved Chemotherapy Daunorubicin Responsive FDA guidelines PMID:22417203 RDientsmann AML TRUE Daunorubicin (Chemotherapy) Acute myeloid leukemia EGFR (T790M) EGFR MUT EGFR:T790M ERBB2 inhibitor&EGFR inhibitor 2nd gen Afatinib Resistant NCCN/CAP guidelines NCCN RDientsmann 01/16 L TRUE Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen) Lung PTEN biallelic inactivation PTEN BIA PTEN:. EGFR mAb inhibitor Panitumumab Resistant Case report Caris molecular intelligence DTamborero COREAD TRUE Panitumumab (EGFR mAb inhibitor) Colorectal adenocarcinoma NRAS oncogenic mutation NRAS MUT NRAS:. Indirect Approved [CDK4/6 inhibitor;MEK inhibitor] [] Responsive Early trials PMID:26658964;NCT01781572;NCT02065063;NCT02022982;ASCO 2014 (abstr 9009) DTamborero;CRubio-Perez;RDientsmann CM TRUE CDK4/6 inhibitor + MEK inhibitors Cutaneous melanoma NRAS (G12C) NRAS MUT NRAS:G12C [ERK inhibitor] [] Responsive Pre-clinical PMID:23614898 RDientsmann CANCER TRUE ERK inhibitors Any cancer type NRAS oncogenic mutation NRAS MUT NRAS:. [ERK inhibitor] [] Responsive Case report ASCO 2017 (abstr 2508) RDientsmann 07/17 CM TRUE ERK inhibitors Cutaneous melanoma NRAS oncogenic mutation NRAS MUT NRAS:. [HSP90 inhibitor] [] Responsive Pre-clinical PMID:23538902 RDientsmann 07/17 CM TRUE HSP90 inhibitors Cutaneous melanoma NRAS oncogenic mutation NRAS MUT NRAS:. [MEK inhibitor +/- PI3K pathway inhibitor] [] Responsive Pre-clinical PMID:23274911;PMID:22392911 RDientsmann 01/16 COREAD TRUE MEK inhibitor +/- PI3K pathway inhibitors Colorectal adenocarcinoma NRAS oncogenic mutation NRAS MUT NRAS:. [MEK inhibitor] [] Responsive Pre-clinical PMID:22507781;PMID:23515407;PMID:18701506 RDientsmann AML;LUAD;ALL TRUE MEK inhibitors Acute myeloid leukemia;Lung adenocarcinoma;Acute lymphoblastic leukemia NRAS (Q61) NRAS MUT NRAS:Q61. [MEK inhibitor] [] Responsive Late trials PMID:23414587,ASCO 2016 (abstr 9500) RDientsmann 06/16 CM TRUE MEK inhibitors Cutaneous melanoma NRAS oncogenic mutation NRAS MUT NRAS:. [Pan-RAF inhibitor] [] Responsive Case report ESMO 2015 (abstract 300);AACR 2017 (abstr CT002) RDientsmann 07/17 CM TRUE Pan-RAF inhibitors Cutaneous melanoma NRAS oncogenic mutation NRAS MUT NRAS:. [PI3K pathway inhibitor;MEK inhibitor] [] Responsive Pre-clinical PMID:22985491 RDientsmann MYMA TRUE PI3K pathway inhibitor + MEK inhibitors Myeloma CRBN oncogenic mutation CRBN MUT CRBN:. Immunomodulator Pomalidomide Resistant Case report PMID:25108355 DTamborero MYMA TRUE IMiD-compound pocket in TBD of the CRBN is formed by three tryptophan residues, Trp380, Trp386 and Trp400 Pomalidomide (Immunomodulator) Myeloma CRBN (Q100*,R283K) CRBN MUT CRBN:Q100*,R283K Immunomodulator Pomalidomide Resistant Case report PMID:23480694 DTamborero MYMA TRUE REMAP:Q99 changed to Q100 (meaning that i changed from ENSTENST00000432408 to ENST00000231948) (chr3:g.3195747C>T chr3:g.3215822G>A) Pomalidomide (Immunomodulator) Myeloma NRAS oncogenic mutation NRAS MUT NRAS:. Pan-TK inhibitor;MEK inhibitor Sorafenib;MEK inhibitor Responsive Early Trials,Case Report PMID:25294897 RDientsmann 01/16 HC TRUE Sorafenib + MEK inhibitor (Pan-TK inhibitor + MEK inhibitor) Hepatic carcinoma CRBN undexpression CRBN EXPR CRBN:under Immunomodulator Pomalidomide Resistant Case report PMID:21860026 DTamborero MYMA TRUE several manuscripts reporting that the IMiD resistant patients exhibit lower CRBN expression Pomalidomide (Immunomodulator) Myeloma NRG1 fusion NRG1 FUS NRG1__. ERBB2&EGFR inhibitor 2nd gen Afatinib Responsive Case report AACR 2016 (abstr 2631) RDientsmann 06/16 LUAD TRUE Afatinib (ERBB2&EGFR inhibitor 2nd gen) Lung adenocarcinoma NRG1 fusion NRG1 FUS NRG1__. ERBB2 inhibitor Lapatinib Responsive Pre-clinical PMID:24727320 RDientsmann LUAD TRUE Lapatinib (ERBB2 inhibitor) Lung adenocarcinoma NTRK1 fusion NTRK1 FUS NTRK1__. [Pan-TK inhibitor] [] Responsive Pre-clinical PMID:24162815 RDientsmann 01/16 LUAD TRUE Pan-TK inhibitors Lung adenocarcinoma NTRK1 fusion NTRK1 FUS NTRK1__. [Pan-TKR inhibitor] [] Responsive Early trials PMID:28183697;ASCO 2017 (LBA2501) RDientsmann 07/17 CANCER TRUE Pan-TKR inhibitors Any cancer type NTRK1 fusion NTRK1 FUS NTRK1__. [Pan-TK inhibitor] [Entrectinib] Responsive Case report PMID:26546295 RDientsmann 11/15 COREAD TRUE Pan-TK inhibitors (Entrectinib,etc) Colorectal adenocarcinoma NTRK1 fusion NTRK1 FUS NTRK1__. ALK inhibitor Crizotinib Responsive Case report ASCO 2013 (abstr 8023) RDientsmann 01/16 LUAD TRUE Crizotinib (ALK inhibitor) Lung adenocarcinoma NTRK3 fusion NTRK3 FUS NTRK3__. [IGF1R inhibitor] [] Responsive Pre-clinical PMID:21148487;PMID:23131561 RDientsmann BRCA TRUE IGF1R inhibitors Breast adenocarcinoma NTRK3 fusion NTRK3 FUS NTRK3__. [PI3K pathway inhibitor] [] Responsive Pre-clinical PMID:21148487;PMID:23131561 RDientsmann BRCA TRUE PI3K pathway inhibitors Breast adenocarcinoma NTRK3 fusion NTRK3 FUS NTRK3__. Pan-TK inhibitor Midostaurin Responsive Pre-clinical PMID:21148487;PMID:23131561 RDientsmann BRCA TRUE Midostaurin (Pan-TK inhibitor) Breast adenocarcinoma PAK1 amplification PAK1 CNA PAK1:amp [PAK inhibitor] [] Responsive Pre-clinical PMID:23535073 RDientsmann CM TRUE PAK inhibitors Cutaneous melanoma PALB2 oncogenic mutation PALB2 MUT PALB2:. [PARP inhibitor] [] Responsive Early trials AACR 2015 (abstr CT322);PMID:26510020 RDientsmann 01/16 PRAD TRUE PARP inhibitors Prostate adenocarcinoma PALB2 oncogenic mutation PALB2 MUT PALB2:. [PARP inhibitor] [] Responsive Pre-clinical PMID:25263539;NCT01585805 RDientsmann 01/16 PA TRUE PARP inhibitors Pancreas PALB2 deletion PALB2 CNA PALB2:del [PARP inhibitor] [] Responsive Early trials AACR 2015 (abstr CT322);PMID:26510020 RDientsmann 01/16 PRAD TRUE PARP inhibitors Prostate adenocarcinoma PALB2 deletion PALB2 CNA PALB2:del [PARP inhibitor] [] Responsive Pre-clinical PMID:25263539;NCT01585805 RDientsmann 01/16 PA TRUE PARP inhibitors Pancreas PALB2 oncogenic mutation PALB2 MUT PALB2:. Chemotherapy Mytomycin C Responsive Case report PMID:21135251 RDientsmann 01/16 PA TRUE Mytomycin C (Chemotherapy) Pancreas PALB2 deletion PALB2 CNA PALB2:del Chemotherapy Mytomycin C Responsive Case report PMID:21135251 RDientsmann 01/16 PA TRUE Mytomycin C (Chemotherapy) Pancreas PALB2 oncogenic mutation PALB2 MUT PALB2:. Chemotherapy Platinum Agent Responsive Case report PMID:25719666 RDientsmann 01/16 PA TRUE Platinum Agent (Chemotherapy) Pancreas PALB2 deletion PALB2 CNA PALB2:del Chemotherapy Platinum Agent Responsive Case report PMID:25719666 RDientsmann 01/16 PA TRUE Platinum Agent (Chemotherapy) Pancreas PBRM1 oncogenic mutation PBRM1 MUT PBRM1:. [EZH2 inhibitor] [] Responsive Pre-clinical PMID:26552009 RDientsmann 01/16 CANCER TRUE EZH2 inhibitors Any cancer type PBRM1 deletion PBRM1 CNA PBRM1:del [EZH2 inhibitor] [] Responsive Pre-clinical PMID:26552009 RDientsmann 01/16 CANCER TRUE EZH2 inhibitors Any cancer type PBRM1 undexpression PBRM1 EXPR PBRM1:under Approved MTOR inhibitor Everolimus Responsive Pre-clinical Cell line PMID:25997916 ARodriguez-Vida 09/15 R TRUE Everolimus (MTOR inhibitor) Renal PDGFRA (D842V) PDGFRA MUT PDGFRA:D842V [HSP90 inhibitor] [] Responsive Pre-clinical PMID:18794084 RDientsmann 01/16 GIST TRUE HSP90 inhibitors Gastrointestinal stromal FLT3 (D835,Y842) FLT3 MUT FLT3:D835.,Y842. BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor Ponatinib Resistant Pre-clinical PMID:23430109 RDientsmann 01/16 AML TRUE Ponatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor) Acute myeloid leukemia PDGFRA (D842V) PDGFRA MUT PDGFRA:D842V FLT3 inhibitor Crenolanib Responsive Early trials ASCO 2016 (abstr 11010) RDientsmann 12/16 GIST TRUE Crenolanib (FLT3 inhibitor) Gastrointestinal stromal PDGFRA (V658A,P577S,R841K,H845Y,G853D) PDGFRA MUT PDGFRA:V658A,P577S,R841K,H845Y,G853D FLT3 inhibitor Crenolanib Responsive Pre-clinical PMID:24132921 RDientsmann CM TRUE Crenolanib (FLT3 inhibitor) Cutaneous melanoma PDGFRA wildtype PDGFRA MUT PDGFRA::wildtype:. BCR-ABL inhibitor 2nd gen Dasatinib Responsive Pre-clinical PMID:16397263 RDientsmann 01/16 GIST TRUE Dasatinib (BCR-ABL inhibitor 2nd gen) Gastrointestinal stromal PDGFRA (D842V) PDGFRA MUT PDGFRA:D842V BCR-ABL inhibitor 2nd gen Dasatinib Responsive Pre-clinical PMID:18794084 RDientsmann 01/16 GIST TRUE Dasatinib (BCR-ABL inhibitor 2nd gen) Gastrointestinal stromal PDGFRA fusion PDGFRA FUS PDGFRA__. Approved BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Responsive FDA guidelines EMA CRubio-Perez;DTamborero;RDientsmann MDS;MDPS TRUE http://www.ema.europa.eu/docs/es_ES/document_library/EPAR_-_Product_Information/human/000406/WC500022207.pdf Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Myelodisplasic syndrome;Myelodisplasic proliferative syndrome PDGFRA-FIP1L1 fusion PDGFRA FUS PDGFRA__FIP1L1 Approved BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Responsive FDA guidelines EMA CRubio-Perez;DTamborero;RDientsmann HES;ECL TRUE http://www.ema.europa.eu/docs/es_ES/document_library/EPAR_-_Product_Information/human/000406/WC500022207.pdf Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Hyper eosinophilic advanced snydrome;Eosinophilic chronic leukemia PDGFRA inframe deletion (I843) PDGFRA MUT PDGFRA::consequence::inframe_deletion:I843. Approved BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Responsive NCCN guidelines NCCN guidelines RDientsmann GIST TRUE Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Gastrointestinal stromal RET (I788N) RET MUT RET:I788N BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor Ponatinib Resistant Pre-clinical PMID:28615362 RDientsmann 07/17 LUAD TRUE Ponatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor) Lung adenocarcinoma PDGFRA (552-596,631-668,814-854) PDGFRA MUT PDGFRA:552-596,631-668,814-854 Approved BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Responsive NCCN guidelines NCCN guidelines RDientsmann GIST TRUE Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Gastrointestinal stromal FLT3 (F691,D835,N676,Y842) FLT3 MUT FLT3:F691.,D835.,N676.,Y842. Pan-TK inhibitor Quizartinib Resistant Pre-clinical PMID:22504184;PMID:23878140 RDientsmann AML TRUE Quizartinib (Pan-TK inhibitor) Acute myeloid leukemia PDGFRA (P577S,R841K,H845Y,G853D) PDGFRA MUT PDGFRA:P577S,R841K,H845Y,G853D BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Responsive Pre-clinical PMID:24132921 RDientsmann CM TRUE Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Cutaneous melanoma EGFR (T790M) EGFR MUT EGFR:T790M EGFR inhibitor 1st gen Erlotinib Resistant NCCN/CAP guidelines NCCN RDientsmann 01/16 L TRUE Erlotinib (EGFR inhibitor 1st gen) Lung PDGFRA (552-596,631-668,814-854) PDGFRA MUT PDGFRA:552-596,631-668,814-854 Approved Pan-kinase inhibitor Regorafenib Responsive NCCN guidelines NCCN guidelines RDientsmann GIST TRUE Mutation exon 12,14,18 Regorafenib (Pan-kinase inhibitor) Gastrointestinal stromal PDGFRA wildtype PDGFRA MUT PDGFRA::wildtype:. Pan-TK inhibitor Sorafenib Responsive Early trials ASCO 2011 (abstr 10009) RDientsmann 01/16 GIST TRUE Sorafenib (Pan-TK inhibitor) Gastrointestinal stromal PDGFRA wildtype PDGFRA MUT PDGFRA::wildtype:. Pan-TK inhibitor Sunitinib Responsive Late trials PMID:18955458 RDientsmann 01/16 GIST TRUE Sunitinib (Pan-TK inhibitor) Gastrointestinal stromal PDGFRA (552-596,631-668,814-854) PDGFRA MUT PDGFRA:552-596,631-668,814-854 Approved Pan-TK inhibitor Sunitinib Responsive NCCN guidelines NCCN guidelines RDientsmann GIST TRUE Mutation exon 12,14,18 Sunitinib (Pan-TK inhibitor) Gastrointestinal stromal EGFR (L798I) EGFR MUT EGFR:L798I EGFR inhibitor Rociletinib Resistant Case report PMID:27283993 RDientsmann 07/16 LUAD TRUE Rociletinib (EGFR inhibitor) Lung adenocarcinoma PDGFRA overexpression PDGFRA EXPR PDGFRA:over Direct Approved Pan-TK inhibitor Sunitinib Responsive Pre-clinical Cell line PMID:24086736 ARodriguez-Vida 09/15 R TRUE Sunitinib (Pan-TK inhibitor) Renal PDGFB-COL1A1 fusion PDGFB FUS PDGFB__COL1A1 Approved BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib Responsive FDA guidelines FDA CRubio-Perez;DTamborero;RDientsmann DFS TRUE http://www.ema.europa.eu/docs/es_ES/document_library/EPAR_-_Product_Information/human/000406/WC500022207.pdf Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Dermatofibrosarcoma PDPK1 amplification PDPK1 CNA PDPK1:amp [PI3K pathway inhibitor] [] Responsive Pre-clinical PMID:19602588 RDientsmann BRCA TRUE PI3K pathway inhibitors Breast adenocarcinoma PIK3CA oncogenic mutation PIK3CA MUT PIK3CA:. [AKT inhibitor] [] Responsive Early trials ASCO 2015 (abstr 2500) RDientsmann 01/16 BRCA TRUE AKT inhibitors Breast adenocarcinoma ERBB2 amplification ERBB2 CNA ERBB2:amp 3rd generation EGFR inhibitor Rociletinib Resistant Case report PMID:27252416 EArriola 06/16 LUAD TRUE Rociletinib (3rd generation EGFR inhibitor) Lung adenocarcinoma PIK3CA oncogenic mutation PIK3CA MUT PIK3CA:. [PI3K pathway inhibitor (alone or in combination)] [] Responsive Pre-clinical PMID:23136191;PMID:23475782;PMID:22392911 RDientsmann 01/16 L;COREAD TRUE PI3K pathway inhibitor (alone or in combination)s Lung;Colorectal adenocarcinoma PIK3CA oncogenic mutation PIK3CA MUT PIK3CA:. [PI3K pathway inhibitor] [] Responsive Case report ASCO 2015 (abstr 2516);ASCO 2015 (abstr 6049);ESMO 2013 (abstr P017) RDientsmann 01/16 BLCA;HNC;L TRUE PI3K pathway inhibitors Bladder;Head an neck;Lung PIK3CA oncogenic mutation PIK3CA MUT PIK3CA:. [PI3K pathway inhibitor] [] Responsive Early trials PMID:22271473;PMID:27672108;AACR 2013 (abstr LB-66);PMID:25231405;ASCO 2013 (abstr 2531);ASCO 2014 (abstr 5513) RDientsmann 01/16 BRCA;OV;CESC;ED TRUE PI3K pathway inhibitors Breast adenocarcinoma;Ovary;Cervix squamous cell;Endometrium PIK3CA oncogenic mutation PIK3CA MUT PIK3CA:. [PI3K pathway inhibitor] [] Responsive Case report PMID:26787751;PMID:26763254 RDientsmann 07/16 HNSC TRUE PI3K pathway inhibitors Head an neck squamous PIK3CA oncogenic mutation PIK3CA MUT PIK3CA:. [PI3K pathway inhibitor] [] Responsive Pre-clinical PMID:19671762;PMID:21289267 RDientsmann G;THCA TRUE PI3K pathway inhibitors Glioma;Thyroid carcinoma MET amplification MET CNA MET:amp [EGFR inhibitor 3rd gen] Rociletinib Resistant Case report PMID:27252416 EArriola 06/16 LUAD TRUE EGFR inhibitor 3rd gens (Rociletinib,etc) Lung adenocarcinoma KRAS oncogenic mutation KRAS MUT KRAS:. Pan-TK inhibitor;MEK inhibitor Sorafenib;MEK inhibitor Responsive Early Trials,Case Report PMID:25294897 RDientsmann 01/16 HC TRUE Sorafenib + MEK inhibitor (Pan-TK inhibitor + MEK inhibitor) Hepatic carcinoma PIK3CA oncogenic mutation PIK3CA MUT PIK3CA:. [PIK3CA inhibitor] [] Responsive Early trials PMID:28331003 RDientsmann 07/17 BRCA TRUE PIK3CA inhibitors Breast adenocarcinoma PIK3CA oncogenic mutation PIK3CA MUT PIK3CA:. [PIK3CA inhibitor] [] Responsive Case report ASCO 2015 (abstr 2501) RDientsmann 01/16 ST TRUE PIK3CA inhibitors Stomach NF1 oncogenic mutation + BRAF oncogenic mutation NF1;BRAF MUT;MUT NF1:.;BRAF:. MEK inhibitor Selumetinib Resistant Case report PMID:23444215 RDientsmann 07/16 CM TRUE Selumetinib (MEK inhibitor) Cutaneous melanoma PIK3CA oncogenic mutation + ERBB2 amplification PIK3CA;ERBB2 MUT;CNA PIK3CA:.;ERBB2:amp MTOR inhibitor;ERBB2 mAb inhibitor;Chemotherapy Everolimus;Trastuzumab;Chemotherapy Responsive Late trials PMID:27091708 RDientsmann 01/16 BRCA TRUE Everolimus + Trastuzumab + Chemotherapy (MTOR inhibitor + ERBB2 mAb inhibitor + Chemotherapy) Breast adenocarcinoma PIK3CB oncogenic mutation PIK3CB MUT PIK3CB:. [AKT inhibitor] [] Responsive Pre-clinical PMID:23619167 RDientsmann 04/16 HNSC TRUE AKT inhibitors Head an neck squamous PIK3CB (D1067Y) PIK3CB MUT PIK3CB:D1067Y [AKT inhibitor] [] Responsive Pre-clinical PMID:26759240 RDientsmann 04/16 BRCA TRUE AKT inhibitors Breast adenocarcinoma PIK3CB oncogenic mutation PIK3CB MUT PIK3CB:. [MTORC1/2 inhibitor] [] Responsive Pre-clinical PMID:23619167 RDientsmann 04/16 HNSC TRUE MTORC1/2 inhibitors Head an neck squamous PIK3CB (D1067Y) PIK3CB MUT PIK3CB:D1067Y [MTORC1/2 inhibitor] [] Responsive Pre-clinical PMID:26759240 RDientsmann 04/16 BRCA TRUE MTORC1/2 inhibitors Breast adenocarcinoma PIK3CB oncogenic mutation PIK3CB MUT PIK3CB:. [PI3K pathway inhibitor] [] Responsive Pre-clinical PMID:23619167 RDientsmann HNSC TRUE PI3K pathway inhibitors Head an neck squamous NF1 deletion + BRAF oncogenic mutation NF1;BRAF CNA;MUT NF1:del;BRAF:. MEK inhibitor Selumetinib Resistant Case report PMID:23444215 RDientsmann 07/16 CM TRUE Selumetinib (MEK inhibitor) Cutaneous melanoma PIK3R1 oncogenic mutation PIK3R1 MUT PIK3R1:. [AKT inhibitor] [] Responsive Pre-clinical PMID:23166678 RDientsmann G TRUE AKT inhibitors Glioma PIK3R1 oncogenic mutation PIK3R1 MUT PIK3R1:. [PI3K pathway inhibitor] [] Responsive Case report ASCO 2015 (abstr 11075) RDientsmann 01/16 ED TRUE PI3K pathway inhibitors Endometrium PIK3R2 (A171V,N561D) PIK3R2 MUT PIK3R2:A171V,N561D [MTOR inhibitor] [] Responsive Pre-clinical PMID:21984976;PMID:19962665 RDientsmann ED TRUE MTOR inhibitors Endometrium PML-RARA fusion PML FUS PML__RARA Approved Retinoid Tretinoin Responsive FDA guidelines FDA DTamborero;CRubio-Perez 01/16 APML TRUE Tretinoin (Retinoid) Acute promyelocytic leukemia PML-RARA fusion PML FUS PML__RARA Approved Retinoid;Chemotherapy Tretinoin;Arsenic Trioxide Responsive FDA guidelines FDA RDientsmann AML TRUE Tretinoin + Arsenic Trioxide (Retinoid + Chemotherapy) Acute myeloid leukemia PML-RARA fusion PML FUS PML__RARA Indirect Clinical Trials PLK1 inhibitor Volasertib Responsive Early trials NCT02198482;NCT01662505 ECampo AML TRUE Volasertib (PLK1 inhibitor) Acute myeloid leukemia POLE (268-471) POLE MUT POLE:268-471 [PD1 Ab inhibitor] [] Responsive Case report PMID:27001570;PMID:27683556;PMID:27159395 RDientsmann 06/16 G;ED TRUE Mutations in exonuclease domain. Domain coordinates from (PMID:23528559) PD1 Ab inhibitors Glioma;Endometrium POLE oncogenic mutation POLE MUT POLE:. [PD1 Ab inhibitor] [] Responsive Case report PMID:28188185 RDientsmann 07/17 COREAD TRUE PD1 Ab inhibitors Colorectal adenocarcinoma PRKCH amplification + ABL1-BCR fusion PRKCH;ABL1 CNA;FUS PRKCH:amp;ABL1__BCR MEK inhibitor;BCR-ABL inhibitor 1st gen&KIT inhibitor Trametinib;Imatinib Responsive Pre-clinical PMID:25186176 RDientsmann CML TRUE Trametinib + Imatinib (MEK inhibitor + BCR-ABL inhibitor 1st gen&KIT inhibitor) Chronic myeloid leukemia PTCH1 oncogenic mutation PTCH1 MUT PTCH1:. Approved [SMO inhibitor] [] Responsive Pre-clinical PMID:24651015 DTamborero;RDientsmann 10/16 MB TRUE SMO inhibitors Medulloblastoma PTCH1 oncogenic mutation PTCH1 MUT PTCH1:. MET inhibitor Foretinib Responsive Pre-clinical PMID:25391241 RDientsmann 01/16 MB TRUE Foretinib (MET inhibitor) Medulloblastoma PTCH1 oncogenic mutation PTCH1 MUT PTCH1:. Approved SHH inhibitor Vismodegib Responsive FDA guidelines PMID:19726763;PMID:19726761 RDientsmann BCC;MB TRUE Vismodegib (SHH inhibitor) Basal cell carcinoma;Medulloblastoma PTEN oncogenic mutation PTEN MUT PTEN:. [AKT inhibitor] [] Responsive Case report PMID:22025163 RDientsmann 01/16 PA TRUE AKT inhibitors Pancreas PTEN deletion PTEN CNA PTEN:del [AKT inhibitor] [] Responsive Case report PMID:22025163 RDientsmann 01/16 PA TRUE AKT inhibitors Pancreas PTEN oncogenic mutation PTEN MUT PTEN:. [ATM inhibitor] [] Responsive Pre-clinical PMID:27397505 RDientsmann 07/16 BRCA TRUE ATM inhibitors Breast adenocarcinoma PTEN oncogenic mutation PTEN MUT PTEN:. [PARP inhibitor] [] Responsive Case report PMID:21468130;PMID:20944090 RDientsmann ED TRUE (low estrogen) PARP inhibitors Endometrium PTEN deletion PTEN CNA PTEN:del [PARP inhibitor] [] Responsive Case report PMID:21468130;PMID:20944090 RDientsmann ED TRUE (low estrogen) PARP inhibitors Endometrium PTEN oncogenic mutation PTEN MUT PTEN:. [PD1 Ab inhibitor] [] Responsive Early trials PMID:26645196 RDientsmann 06/16 CM TRUE PD1 Ab inhibitors Cutaneous melanoma PTEN deletion PTEN CNA PTEN:del [PD1 Ab inhibitor] [] Responsive Early trials PMID:26645196 RDientsmann 06/16 CM TRUE PD1 Ab inhibitors Cutaneous melanoma PTEN oncogenic mutation PTEN MUT PTEN:. [PI3K pathway inhibitor;AR antagonist] [] Responsive Pre-clinical PMID:21575859 RDientsmann 01/16 PRAD TRUE PI3K pathway inhibitor + AR antagonists Prostate adenocarcinoma PTEN deletion PTEN CNA PTEN:del [PI3K pathway inhibitor;AR antagonist] [] Responsive Pre-clinical PMID:21575859 RDientsmann 01/16 PRAD TRUE PI3K pathway inhibitor + AR antagonists Prostate adenocarcinoma PTEN oncogenic mutation PTEN MUT PTEN:. [PI3K pathway inhibitor;MEK inhibitor] [] Responsive Pre-clinical PMID:21632463 RDientsmann 01/16 OV TRUE PI3K pathway inhibitor + MEK inhibitors Ovary PTEN deletion PTEN CNA PTEN:del [PI3K pathway inhibitor;MEK inhibitor] [] Responsive Pre-clinical PMID:21632463 RDientsmann 01/16 OV TRUE PI3K pathway inhibitor + MEK inhibitors Ovary PTEN oncogenic mutation PTEN MUT PTEN:. [PI3K pathway inhibitor] [] Responsive Pre-clinical PMID:21289267;PMID:21325073;PMID:21191045;PMID:17804702;PMID:23136191;PMID:21632463;PMID:21673091;PMID:23287563;PMID:21998291;PMID:22662154;PMID:23085766;PMID:22932669 RDientsmann 01/16 TH;G;L;OV;BRCA;CANCER;ED TRUE PI3K pathway inhibitors Thyroid;Glioma;Lung;Ovary;Breast adenocarcinoma;Any cancer type;Endometrium PTEN deletion PTEN CNA PTEN:del [PI3K pathway inhibitor] [] Responsive Pre-clinical PMID:21289267;PMID:21325073;PMID:21191045;PMID:17804702;PMID:23136191;PMID:21632463;PMID:21673091;PMID:23287563;PMID:21998291;PMID:22662154;PMID:23085766;PMID:22932669 RDientsmann 01/16 TH;G;L;OV;BRCA;CANCER;ED TRUE PI3K pathway inhibitors Thyroid;Glioma;Lung;Ovary;Breast adenocarcinoma;Any cancer type;Endometrium PTEN oncogenic mutation PTEN MUT PTEN:. [PIK3CB inhibitor] [] Responsive Case report ASCO 2014 (abstr 2514) RDientsmann 01/16 PRAD TRUE PIK3CB inhibitors Prostate adenocarcinoma PTEN deletion PTEN CNA PTEN:del [PIK3CB inhibitor] [] Responsive Case report ASCO 2014 (abstr 2514) RDientsmann 01/16 PRAD TRUE PIK3CB inhibitors Prostate adenocarcinoma KIT mutation in exon 11 KIT MUT KIT:550-592 Pan-TK inhibitor Sunitinib Resistant Late trials PMID:18955458 RDientsmann 01/16 GIST TRUE Sunitinib (Pan-TK inhibitor) Gastrointestinal stromal PTEN oncogenic mutation PTEN MUT PTEN:. MTOR inhibitor Everolimus Responsive Early trials PMID:23582881 RDientsmann 01/16 PRAD TRUE Everolimus (MTOR inhibitor) Prostate adenocarcinoma PTEN deletion PTEN CNA PTEN:del MTOR inhibitor Everolimus Responsive Early trials PMID:23582881 RDientsmann 01/16 PRAD TRUE Everolimus (MTOR inhibitor) Prostate adenocarcinoma KIT mutation in exon 17 KIT MUT KIT:788-828 Pan-TK inhibitor Sunitinib Resistant Pre-clinical PMID:23840364 RDientsmann 01/16 GIST TRUE Sunitinib (Pan-TK inhibitor) Gastrointestinal stromal PTEN oncogenic mutation PTEN MUT PTEN:. MTOR inhibitor Sirolimus Responsive Early trials ASCO 2013 (abstr 2532) RDientsmann 01/16 CANCER TRUE Sirolimus (MTOR inhibitor) Any cancer type PTEN deletion PTEN CNA PTEN:del MTOR inhibitor Sirolimus Responsive Early trials ASCO 2013 (abstr 2532) RDientsmann 01/16 CANCER TRUE Sirolimus (MTOR inhibitor) Any cancer type KIT amplification KIT CNA KIT:amp Pan-TK inhibitor Sunitinib No Responsive Early trials PMID:22261812 RDientsmann 01/16 CM TRUE Sunitinib (Pan-TK inhibitor) Cutaneous melanoma PDGFRA (D842V) PDGFRA MUT PDGFRA:D842V Pan-TK inhibitor Sunitinib Resistant Late trials,Pre-clinical PMID:22718859;PMID:16638875 RDientsmann 01/16 GIST TRUE Sunitinib (Pan-TK inhibitor) Gastrointestinal stromal ESR1 (E380Q,537,538,L536,P535H) ESR1 MUT ESR1:E380Q,.537.,.538.,L536.,P535H Hormonal therapy Tamoxifen Resistant Early trials PMID:24185512;PMID:24185510;PMID:24398047 RDientsmann BRCA TRUE Tamoxifen (Hormonal therapy) Breast adenocarcinoma NF1 oncogenic mutation NF1 MUT NF1:. Farnesyltransferase inhibitor Tipifarnib No Responsive Early trials PMID:24500418 RDientsmann 07/16 PLEN TRUE germline Tipifarnib (Farnesyltransferase inhibitor) Plexiform neurofibroma PTEN oncogenic mutation + ERBB2 amplification PTEN;ERBB2 MUT;CNA PTEN:.;ERBB2:amp MTOR inhibitor;ERBB2 mAb inhibitor;Chemotherapy Everolimus;Trastuzumab;Chemotherapy Responsive Late trials PMID:27091708 RDientsmann 01/16 BRCA TRUE Everolimus + Trastuzumab + Chemotherapy (MTOR inhibitor + ERBB2 mAb inhibitor + Chemotherapy) Breast adenocarcinoma PTPRD oncogenic mutation PTPRD MUT PTPRD:. [IGF1R inhibitor] [] Responsive Case report PMID:23800680 RDientsmann 12/16 S TRUE IGF1R inhibitors Sarcoma NF1 deletion NF1 CNA NF1:del Farnesyltransferase inhibitor Tipifarnib No Responsive Early trials PMID:24500418 RDientsmann 07/16 PLEN TRUE germline Tipifarnib (Farnesyltransferase inhibitor) Plexiform neurofibroma NF1 oncogenic mutation NF1 MUT NF1:. MEK inhibitor Trametinib No Responsive Case report PMID:26325560 RDientsmann 07/16 OS TRUE Trametinib (MEK inhibitor) Osteosarcoma RAD50 (L1237F) + ATM deletion RAD50;ATM MUT;CNA RAD50:L1237F;ATM:del TOPO1 inhibitor;CHK1/2 inhibitor Irinotecan;CHK1/2 inhibitor Responsive Case report PMID:24934408 RDientsmann 01/16 CANCER TRUE Irinotecan + CHK1/2 inhibitor (TOPO1 inhibitor + CHK1/2 inhibitor) Any cancer type RAD51C oncogenic mutation RAD51C MUT RAD51C:. [PARP inhibitor] [] Responsive Early trials ASCO 2015 (abstr 5508) RDientsmann 01/16 OV TRUE PARP inhibitors Ovary RAD51C oncogenic mutation RAD51C MUT RAD51C:. [PARP inhibitor] [] Responsive Early trials ASCO 2015 (abstr 5508) RDientsmann 04/16 OV TRUE PARP inhibitors Ovary RAF1 fusion RAF1 FUS RAF1__. Direct Pre-clinical [Pan-RAF inhibitor] [] Responsive Pre-clinical Cell line PMID:20526349 ARodriguez-Vida 09/15 PRAD TRUE Pan-RAF inhibitors Prostate adenocarcinoma RAF1 fusion RAF1 FUS RAF1__. Pan-TK inhibitor Sorafenib Responsive Pre-clinical PMID:20526349 RDientsmann PRAD TRUE Sorafenib (Pan-TK inhibitor) Prostate adenocarcinoma RAF1 overexpression RAF1 EXPR RAF1:over Pan-TK inhibitor Sorafenib Responsive Pre-clinical Cell line PMID:24375110 CdeTorres 10/16 OS TRUE Sorafenib (Pan-TK inhibitor) Osteosarcoma RAF1 fusion RAF1 FUS RAF1__. Indirect Approved MEK inhibitor U0126 Responsive Pre-clinical Cell line PMID:20526349 ARodriguez-Vida 09/15 PRAD TRUE U0126 (MEK inhibitor) Prostate adenocarcinoma NF1 deletion NF1 CNA NF1:del MEK inhibitor Trametinib No Responsive Case report PMID:26325560 RDientsmann 07/16 OS TRUE Trametinib (MEK inhibitor) Osteosarcoma RB1 oncogenic mutation RB1 MUT RB1:. [HDAC inhibitor] [] Responsive Pre-clinical PMID:18483379 RDientsmann 01/16 RB TRUE HDAC inhibitors Retinoblastoma RB1 deletion RB1 CNA RB1:del [HDAC inhibitor] [] Responsive Pre-clinical PMID:18483379 RDientsmann 01/16 RB TRUE HDAC inhibitors Retinoblastoma RB1 oncogenic mutation RB1 MUT RB1:. [MDM2/MDMX inhibitor] [] Responsive Pre-clinical PMID:17080083;PMID:21515735 RDientsmann RB TRUE MDM2/MDMX inhibitors Retinoblastoma RB1 deletion RB1 CNA RB1:del [MDM2/MDMX inhibitor] [] Responsive Pre-clinical PMID:17080083;PMID:21515735 RDientsmann RB TRUE MDM2/MDMX inhibitors Retinoblastoma RB1 oncogenic mutation RB1 MUT RB1:. Indirect Approved Chemotherapy Cisplatin Responsive Early trials PMID:26238431 ARodriguez-Vida;RDientsmann BLCA BLCA TRUE Cisplatin (Chemotherapy) Bladder RB1 deletion RB1 CNA RB1:del Indirect Approved Chemotherapy Cisplatin Responsive Early trials PMID:26238431 ARodriguez-Vida;RDientsmann BLCA BLCA TRUE Cisplatin (Chemotherapy) Bladder RB1 overexpression RB1 EXPR RB1:over Indirect Pre-clinical CDK4/6 inhibitor Palbociclib Responsive Pre-clinical Xenograft PMID:23708653 ARodriguez-Vida 09/15 PRAD TRUE Palbociclib (CDK4/6 inhibitor) Prostate adenocarcinoma RET fusion RET FUS RET__. [RET inhibitor] [] Responsive Pre-clinical PMID:22327624;PMID:22327622 RDientsmann 01/16 LUAD TRUE RET inhibitors Lung adenocarcinoma RET-TPCN1 fusion RET FUS RET__TPCN1 [RET inhibitor] [] Responsive Pre-clinical PMID:23056499 RDientsmann 01/16 TH TRUE RET inhibitors Thyroid RET (C634W,M918T) RET MUT RET:C634W,M918T [RET inhibitor] [] Responsive Pre-clinical PMID:23056499 RDientsmann 01/16 TH TRUE RET inhibitors Thyroid RET fusion RET FUS RET__. Pan-kinase inhibitor Cabozantinib Responsive Early trials PMID:28447912 RDientsmann 07/17 LUAD TRUE Cabozantinib (Pan-kinase inhibitor) Lung adenocarcinoma RET-TPCN1 fusion RET FUS RET__TPCN1 Pan-kinase inhibitor Cabozantinib Responsive Pre-clinical PMID:21470995 RDientsmann THCA TRUE Cabozantinib (Pan-kinase inhibitor) Thyroid carcinoma RET (C634W,M918T) RET MUT RET:C634W,M918T Pan-kinase inhibitor Cabozantinib Responsive Pre-clinical PMID:21470995 RDientsmann 01/16 TH TRUE Cabozantinib (Pan-kinase inhibitor) Thyroid RET fusion RET FUS RET__. Pan-TK inhibitor Nintedanib Responsive Case report PMID:26787234 RDientsmann 06/16 LUAD TRUE Nintedanib (Pan-TK inhibitor) Lung adenocarcinoma ARID1A oncogenic mutation + ANXA1 overexpression ARID1A;ANXA1 MUT;EXPR ARID1A:.;ANXA1:over FDA approved ERBB2 mAb inhibitor Trastuzumab Resistant Early trials PMID:27172896 RDientsmann 12/16 BRCA TRUE Anaxa 1 high Trastuzumab (ERBB2 mAb inhibitor) Breast adenocarcinoma RET fusion RET FUS RET__. Pan-TK inhibitor Sunitinib Responsive Early trials PMID:28447912 RDientsmann 07/17 LUAD TRUE Sunitinib (Pan-TK inhibitor) Lung adenocarcinoma RET-TPCN1 fusion RET FUS RET__TPCN1 Pan-TK inhibitor Sunitinib Responsive Pre-clinical PMID:21470995 RDientsmann THCA TRUE Sunitinib (Pan-TK inhibitor) Thyroid carcinoma RET (C634W,M918T) RET MUT RET:C634W,M918T Pan-TK inhibitor Sunitinib Responsive Pre-clinical PMID:21470995 RDientsmann 01/16 TH TRUE Sunitinib (Pan-TK inhibitor) Thyroid RET fusion RET FUS RET__. Pan-TK inhibitor Vandetanib Responsive Early trials PMID:28447912 RDientsmann 07/17 LUAD TRUE Vandetanib (Pan-TK inhibitor) Lung adenocarcinoma RET-TPCN1 fusion RET FUS RET__TPCN1 Pan-TK inhibitor Vandetanib Responsive Pre-clinical PMID:21470995 RDientsmann THCA TRUE Vandetanib (Pan-TK inhibitor) Thyroid carcinoma RET (618,620,634,768,791,891,918,C634W,M918T) RET MUT RET:.618.,.620.,.634.,.768.,.791.,.891.,.918.,C634W,M918T Approved Pan-TK inhibitor Vandetanib Responsive FDA guidelines PMID:20065189;PMID:22025146 RDientsmann THCA TRUE Vandetanib (Pan-TK inhibitor) Thyroid carcinoma RICTOR amplification RICTOR CNA RICTOR:amp [MTORC1/2 inhibitor] [] Responsive Case report PMID:26370156 RDientsmann 01/16 L TRUE MTORC1/2 inhibitors Lung RNF43 oncogenic mutation RNF43 MUT RNF43:. [Porcupine inhibitor] [] Responsive Case report ENA 2015 (abstr C45) RDientsmann 11/15 COREAD TRUE Porcupine inhibitors Colorectal adenocarcinoma ROS1 fusion ROS1 FUS ROS1__. [HSP90 inhibitor] [] Responsive Pre-clinical PMID:23533265 RDientsmann 01/16 LUAD TRUE HSP90 inhibitors Lung adenocarcinoma ROS1 fusion ROS1 FUS ROS1__. Pan-kinase inhibitor Cabozantinib Responsive Case report PMID:27370605 RDientsmann 07/17 LUAD TRUE Cabozantinib (Pan-kinase inhibitor) Lung adenocarcinoma ROS1 (G2032R) ROS1 MUT ROS1:G2032R Pan-kinase inhibitor Cabozantinib Responsive Pre-clinical PMID:25351743 RDientsmann 01/16 LUAD TRUE Cabozantinib (Pan-kinase inhibitor) Lung adenocarcinoma ARID1A amplification + ANXA1 overexpression ARID1A;ANXA1 CNA;EXPR ARID1A:amp;ANXA1:over FDA approved ERBB2 mAb inhibitor Trastuzumab Resistant Early trials PMID:27172896 RDientsmann 12/16 BRCA TRUE Anaxa 1 high Trastuzumab (ERBB2 mAb inhibitor) Breast adenocarcinoma ROS1 fusion ROS1 FUS ROS1__. ALK inhibitor Crizotinib Responsive Case report PMID:24875859 RDientsmann 01/16 IM TRUE Crizotinib (ALK inhibitor) Inflammatory myofibroblastic ROS1 fusion ROS1 FUS ROS1__. ALK inhibitor Crizotinib Responsive Early trials PMID:25264305 RDientsmann 01/16 LUAD TRUE Crizotinib (ALK inhibitor) Lung adenocarcinoma ROS1 fusion ROS1 FUS ROS1__. Clinical trials ALK inhibitor Crizotinib Responsive FDA guidelines FDA CRubio-Perez;EArriola NSCLC TRUE Crizotinib (ALK inhibitor) Non-small cell lung ERBB2 amplification ERBB2 CNA ERBB2:amp ERBB2 mAb inhibitor Trastuzumab No Responsive Early trials PMID:26099744;PMID:19840887 DTamborero;RDientsmann ED TRUE Trastuzumab (ERBB2 mAb inhibitor) Endometrium HGF amplification + ERBB2 amplification HGF;ERBB2 CNA;CNA HGF:amp;ERBB2:amp ERBB2 mAb inhibitor Trastuzumab Resistant Early trials PMID:22850551 RDientsmann;CRubio-Perez BRCA TRUE Trastuzumab (ERBB2 mAb inhibitor) Breast adenocarcinoma ROS1 (S1986Y,S1986F) ROS1 MUT ROS1:S1986Y,S1986F ALK&ROS1 inhibitor Lorlatinib Responsive Case report PMID:27401242 RDientsmann 07/17 LUAD TRUE Lorlatinib (ALK&ROS1 inhibitor) Lung adenocarcinoma SERPINB3 oncogenic mutation SERPINB3 MUT SERPINB3:. [CTLA4 inhibitor] [] Responsive Early trials PMID:27668655 RDientsmann 12/16 CM TRUE CTLA4 inhibitors Cutaneous melanoma SETD2 oncogenic mutation SETD2 MUT SETD2:. [WEE1 inhibitor] [] Responsive Pre-clinical ENA 2014 (abstr 211) RDientsmann CANCER TRUE WEE1 inhibitors Any cancer type SETD2 deletion SETD2 CNA SETD2:del [WEE1 inhibitor] [] Responsive Pre-clinical ENA 2014 (abstr 211) RDientsmann CANCER TRUE WEE1 inhibitors Any cancer type SF3B1 (K700E,K666N) SF3B1 MUT SF3B1:K700E,K666N [Spliceosome inhibitor] [] Responsive Pre-clinical ENA 2014 (abstr 456);ENA 2014 (abstr 575);PMID:25424858 RDientsmann CANCER TRUE Spliceosome inhibitors Any cancer type SH2B3 oncogenic mutation SH2B3 MUT SH2B3:. [JAK inhibitor] [] Responsive Pre-clinical PMID:20404132 RDientsmann MDPS TRUE JAK inhibitors Myelodisplasic proliferative syndrome SH2B3 deletion SH2B3 CNA SH2B3:del [JAK inhibitor] [] Responsive Pre-clinical PMID:20404132 RDientsmann MDPS TRUE JAK inhibitors Myelodisplasic proliferative syndrome MET amplification + ERBB2 amplification MET;ERBB2 CNA;CNA MET:amp;ERBB2:amp ERBB2 mAb inhibitor Trastuzumab Resistant Early trials PMID:22850551 RDientsmann 01/16 BRCA TRUE Trastuzumab (ERBB2 mAb inhibitor) Breast adenocarcinoma SLC44A4 overexpression SLC44A4 EXPR SLC44A4:over [SLC44A4 inhibitor] [] Responsive Pre-clinical PMID:27550944 CRubio-Perez 02/17 PRAD;PAAD TRUE SLC44A4 inhibitors Prostate adenocarcinoma;Pancreas adenocarcinoma SMARCA1 oncogenic mutation SMARCA1 MUT SMARCA1:. [EZH2 inhibitor] [] Responsive Pre-clinical PMID:26552009 RDientsmann 01/16 CANCER TRUE EZH2 inhibitors Any cancer type SMARCA4 oncogenic mutation SMARCA4 MUT SMARCA4:. [EZH2 inhibitor] [] Responsive Case report ESMO 2015 (abstract 302) RDientsmann 11/15 OV TRUE EZH2 inhibitors Ovary SMARCA4 deletion SMARCA4 CNA SMARCA4:del [EZH2 inhibitor] [] Responsive Case report ESMO 2015 (abstract 302) RDientsmann 11/15 OV TRUE EZH2 inhibitors Ovary SMARCB1 oncogenic mutation SMARCB1 MUT SMARCB1:. [EZH2 inhibitor] [] Responsive Case report ENA 2014 (abstr 6LBA);ESMO 2015 (abstract 302) RDientsmann 01/16 MRT TRUE INI1 gene symbol: SMARCB1 EZH2 inhibitors Malignant rhabdoid tumor SMARCB1 deletion SMARCB1 CNA SMARCB1:del [EZH2 inhibitor] [] Responsive Case report ENA 2014 (abstr 6LBA);ESMO 2015 (abstract 302) RDientsmann 01/16 MRT TRUE INI1 gene symbol: SMARCB1 EZH2 inhibitors Malignant rhabdoid tumor SMARCB1 deletion SMARCB1 CNA SMARCB1:del Clinical Trials [EZH2 inhibitor] [] Responsive Early trials ESMO 2015 (abstract 302) RDientsmann 11/15 MRT TRUE EZH2 inhibitors Malignant rhabdoid tumor SMARCB1 oncogenic mutation SMARCB1 MUT SMARCB1:. [HDAC inhibitor] [] Responsive Pre-clinical PMID:26920892 RDientsmann 07/16 MRT TRUE HDAC inhibitors Malignant rhabdoid tumor MET amplification + ERBB2 amplification MET;ERBB2 CNA;CNA MET:amp;ERBB2:amp ERBB2 mAb inhibitor Trastuzumab Resistant Early trials PMID:22850551; PMID:26432108 RDientsmann 01/16 BRCA;ST TRUE Trastuzumab (ERBB2 mAb inhibitor) Breast adenocarcinoma;Stomach KRAS oncogenic mutation KRAS MUT KRAS:. MEK inhibitor;BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor Trametinib;Ponatinib Responsive Pre-clinical PMID:27338794 RDientsmann 07/16 LUAD TRUE Trametinib + Ponatinib (MEK inhibitor + BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor) Lung adenocarcinoma SMO (P641A) SMO MUT SMO:P641A SHH inhibitor Vismodegib Responsive Case report ASCO 2017 (abstr 9062) RDientsmann 07/17 L TRUE Vismodegib (SHH inhibitor) Lung SRSF2 oncogenic mutation SRSF2 MUT SRSF2:. [Spliceosome inhibitor] [] Responsive Pre-clinical PMID:27135740 RDientsmann 06/16 AML TRUE Spliceosome inhibitors Acute myeloid leukemia STAG2 oncogenic mutation STAG2 MUT STAG2:. [PARP inhibitor] [] Responsive Pre-clinical PMID:24356817 RDientsmann G TRUE PARP inhibitors Glioma BRAF inframe deletion (L485),inframe deletion (P490) BRAF MUT BRAF::consequence::inframe_deletion:L485.,::inframe_deletion:P490. Approved BRAF inhibitor Vemurafenib Resistant Pre-clinical PMID:26732095 RDientsmann 04/16 CANCER TRUE Vemurafenib (BRAF inhibitor) Any cancer type STK11 oncogenic mutation STK11 MUT STK11:. [MEK inhibitor] [] Responsive Pre-clinical PMID:19165201 RDientsmann LUAD TRUE MEK inhibitors Lung adenocarcinoma STK11 deletion STK11 CNA STK11:del [MEK inhibitor] [] Responsive Pre-clinical PMID:19165201 RDientsmann LUAD TRUE MEK inhibitors Lung adenocarcinoma STK11 oncogenic mutation STK11 MUT STK11:. [MTOR inhibitor] [] Responsive Pre-clinical PMID:19541609 RDientsmann CANCER TRUE MTOR inhibitors Any cancer type STK11 deletion STK11 CNA STK11:del [MTOR inhibitor] [] Responsive Pre-clinical PMID:19541609 RDientsmann CANCER TRUE MTOR inhibitors Any cancer type STK11 oncogenic mutation STK11 MUT STK11:. [SRC inhibitor;PI3K/MEK inhibitor] [] Responsive Pre-clinical PMID:20541700 RDientsmann 01/16 LUAD TRUE SRC inhibitor + PI3K/MEK inhibitors Lung adenocarcinoma STK11 deletion STK11 CNA STK11:del [SRC inhibitor;PI3K/MEK inhibitor] [] Responsive Pre-clinical PMID:20541700 RDientsmann 01/16 LUAD TRUE SRC inhibitor + PI3K/MEK inhibitors Lung adenocarcinoma STK11 (D194E) STK11 MUT STK11:D194E MTOR inhibitor Everolimus Responsive Case report PMID:21189378 RDientsmann 01/16 PA TRUE Everolimus (MTOR inhibitor) Pancreas STK11 oncogenic mutation STK11 MUT STK11:. Anti-diabetic Phenformin Responsive Pre-clinical PMID:23352126 RDientsmann 01/16 LUAD TRUE Phenformin (Anti-diabetic) Lung adenocarcinoma STK11 deletion STK11 CNA STK11:del Anti-diabetic Phenformin Responsive Pre-clinical PMID:23352126 RDientsmann 01/16 LUAD TRUE Phenformin (Anti-diabetic) Lung adenocarcinoma BRAF (V600) BRAF MUT BRAF:V600. Approved BRAF inhibitor Vemurafenib No Responsive Early trials PMID:26287849 DTamborero COREAD TRUE Vemurafenib (BRAF inhibitor) Colorectal adenocarcinoma MAP2K1 (E203K,Q56P,K57E) MAP2K1 MUT MAP2K1:E203K,Q56P,K57E BRAF inhibitor Vemurafenib Resistant Case report PMID:23569304 RDientsmann CM TRUE Vemurafenib (BRAF inhibitor) Cutaneous melanoma NF1 biallelic inactivation NF1 BIA NF1:. BRAF inhibitor Vemurafenib Resistant Pre-clinical PMID:23171796 DTamborero CM TRUE Vemurafenib (BRAF inhibitor) Cutaneous melanoma SUZ12 oncogenic mutation SUZ12 MUT SUZ12:. [BET inhibitor] [] Responsive Pre-clinical PMID:25119042 RDientsmann CANCER TRUE BET inhibitors Any cancer type SUZ12 deletion SUZ12 CNA SUZ12:del [BET inhibitor] [] Responsive Pre-clinical PMID:25119042 RDientsmann CANCER TRUE BET inhibitors Any cancer type SYK amplification SYK CNA SYK:amp [SYK inhibitor] [] Responsive Pre-clinical PMID:16409295;PMID:19549911 RDientsmann MCL;CLL TRUE SYK inhibitors Mantle cell lymphoma;Chronic lymphocytic leukemia TERT promoters core TERT MUT TERT::consequence::promoters_core:. Macrocyclic analog Eribulin Responsive Pre-clinical PMID:25375122;https://academic.oup.com/neuro-oncology/article-abstract/18/suppl_4/iv50/2222864/P08-41-Development-of-a-novel-TERT-targeting?cited-by=yes&legid=neuonc;18/suppl_4/iv50-b CRubio-Perez 02/17 GBM TRUE Eribulin (Macrocyclic analog) Glioblastoma multiforme TMPRSS2 fusion TMPRSS2 FUS TMPRSS2__. [DNA-PKc inhibitor] [] Responsive Pre-clinical PMID:21575865 RDientsmann 01/16 PRAD TRUE DNA-PKc inhibitors Prostate adenocarcinoma TMPRSS2 fusion TMPRSS2 FUS TMPRSS2__. [PARP inhibitor] [] Responsive Pre-clinical PMID:21575865 RDientsmann PRAD TRUE PARP inhibitors Prostate adenocarcinoma TOP2A amplification TOP2A CNA TOP2A:amp Chemotherapy Anthracyclines Responsive Late trials PMID:22864769 RDientsmann 01/16 BRCA TRUE Anthracyclines (Chemotherapy) Breast adenocarcinoma TP53 wildtype TP53 MUT TP53::wildtype:. [HDM2 inhibitor] [] Responsive Early trials AACR 2017 (abstr CT152) RDientsmann 07/17 AML TRUE HDM2 inhibitors Acute myeloid leukemia TP53 (R248Q,R175H) TP53 MUT TP53:R248Q,R175H [HSP90 inhibitor] [] Responsive Pre-clinical PMID:26009011 RDientsmann 04/16 CANCER TRUE HSP90 inhibitors Any cancer type TP53 (R248Q,R175H) TP53 MUT TP53:R248Q,R175H [HSP90 inhibitor] [] Responsive Pre-clinical PMID:26009011 RDientsmann CANCER TRUE REMAP:R172H changed to R175H it was not the human mutation HSP90 inhibitors Any cancer type NF1 oncogenic mutation + BRAF oncogenic mutation NF1;BRAF MUT;MUT NF1:.;BRAF:. BRAF inhibitor Vemurafenib Resistant Case report PMID:23288408;PMID:231718 RDientsmann 07/16 CM TRUE Vemurafenib (BRAF inhibitor) Cutaneous melanoma TP53 oncogenic mutation TP53 MUT TP53:. [WEE1 inhibitor] [] Responsive Pre-clinical PMID:25125259 RDientsmann HNC TRUE WEE1 inhibitors Head an neck NF1 deletion + BRAF oncogenic mutation NF1;BRAF CNA;MUT NF1:del;BRAF:. BRAF inhibitor Vemurafenib Resistant Case report PMID:23288408;PMID:231718 RDientsmann 07/16 CM TRUE Vemurafenib (BRAF inhibitor) Cutaneous melanoma TP53 oncogenic mutation TP53 MUT TP53:. Indirect Clinical Trials ATR inhibitor AZD6738 Responsive Early trials NCT01955668;https://ash.confex.com/ash/2014/webprogram/Paper71027.html ECampo BCL TRUE AZD6738 (ATR inhibitor) B cell lymphoma TP53 deletion TP53 CNA TP53:del Indirect Clinical Trials ATR inhibitor AZD6738 Responsive Early trials NCT01955668;https://ash.confex.com/ash/2014/webprogram/Paper71027.html ECampo BCL TRUE AZD6738 (ATR inhibitor) B cell lymphoma NRAS oncogenic mutation NRAS MUT NRAS:. BRAF inhibitor Vemurafenib Resistant Pre-clinical PMID:20179705 DTamborero CM TRUE there is also some report in real patients with resistance, but not clear association Vemurafenib (BRAF inhibitor) Cutaneous melanoma TP53 oncogenic mutation TP53 MUT TP53:. Chemotherapy Decitabine Responsive Early trials PMID:27959731 RDientsmann 12/16 AML;MDPS TRUE Decitabine (Chemotherapy) Acute myeloid leukemia;Myelodisplasic proliferative syndrome TP53 oncogenic mutation TP53 MUT TP53:. Anthracycline antitumor antibiotic Doxorubicin Responsive Pre-clinical PMID:27397505 RDientsmann 07/16 BLCA TRUE Doxorubicin (Anthracycline antitumor antibiotic) Bladder TP53 oncogenic mutation TP53 MUT TP53:. Chemotherapy Gemcitabine Responsive Pre-clinical PMID:27397505 RDientsmann 07/16 BLCA TRUE Gemcitabine (Chemotherapy) Bladder TP53 oncogenic mutation TP53 MUT TP53:. Chemotherapy Mitomycin C Responsive Pre-clinical PMID:27397505 RDientsmann 07/16 BLCA TRUE Mitomycin C (Chemotherapy) Bladder TP53 oncogenic mutation TP53 MUT TP53:. Indirect Clinical Trials [WEE1 inhibitor] [] Responsive Early trials PMID:27998224 KKarube;RDientsmann;DTamborero OV TRUE WEE1 inhibitors Ovary TP53 oncogenic mutation TP53 MUT TP53:. Amylin analogue Pramlintide Responsive Pre-clinical PMID:25409149 RDientsmann THYM TRUE Pramlintide (Amylin analogue) Thymic TP53 deletion TP53 CNA TP53:del Amylin analogue Pramlintide Responsive Pre-clinical PMID:25409149 RDientsmann THYM TRUE Pramlintide (Amylin analogue) Thymic TPMT splice acceptor variant TPMT MUT TPMT::consequence::splice_acceptor_variant:. Approved Chemotherapy Cisplatin Increased Toxicity (Ototoxicity) FDA guidelines FDA DTamborero;CRubio-Perez 01/16 CANCER TRUE Cisplatin (Chemotherapy) Any cancer type TPMT biallelic inactivation TPMT BIA TPMT:. Approved Chemotherapy Cisplatin Increased Toxicity (Ototoxicity) FDA guidelines FDA DTamborero;CRubio-Perez 01/16 CANCER TRUE Cisplatin (Chemotherapy) Any cancer type TPMT (A80P,Y240C,A154T,A167G) TPMT MUT TPMT:A80P,Y240C,A154T,A167G Approved Chemotherapy Cisplatin Increased Toxicity (Ototoxicity) FDA guidelines FDA DTamborero;CRubio-Perez 01/16 CANCER TRUE Cisplatin (Chemotherapy) Any cancer type TPMT splice acceptor variant TPMT MUT TPMT::consequence::splice_acceptor_variant:. Approved Purine analog Mercaptopurine Increased Toxicity (Myelosupression) FDA guidelines FDA DTamborero;CRubio-Perez 01/16 CANCER TRUE Mercaptopurine (Purine analog) Any cancer type TPMT biallelic inactivation TPMT BIA TPMT:. Approved Purine analog Mercaptopurine Increased Toxicity (Myelosupression) FDA guidelines FDA DTamborero;CRubio-Perez 01/16 CANCER TRUE Mercaptopurine (Purine analog) Any cancer type TPMT (A80P,Y240C,A154T,A167G) TPMT MUT TPMT:A80P,Y240C,A154T,A167G Approved Purine analog Mercaptopurine Increased Toxicity (Myelosupression) FDA guidelines FDA DTamborero;CRubio-Perez 01/16 CANCER TRUE Mercaptopurine (Purine analog) Any cancer type TPMT splice acceptor variant TPMT MUT TPMT::consequence::splice_acceptor_variant:. Approved Guanine analog Thioguanine Increased Toxicity (Myelosupression) FDA guidelines FDA DTamborero;CRubio-Perez 01/16 CANCER TRUE Thioguanine (Guanine analog) Any cancer type TPMT biallelic inactivation TPMT BIA TPMT:. Approved Guanine analog Thioguanine Increased Toxicity (Myelosupression) FDA guidelines FDA DTamborero;CRubio-Perez 01/16 CANCER TRUE Thioguanine (Guanine analog) Any cancer type TPMT (A80P,Y240C,A154T,A167G) TPMT MUT TPMT:A80P,Y240C,A154T,A167G Approved Guanine analog Thioguanine Increased Toxicity (Myelosupression) FDA guidelines FDA DTamborero;CRubio-Perez 01/16 CANCER TRUE Thioguanine (Guanine analog) Any cancer type MET amplification + BRAF (V600E) MET;BRAF CNA;MUT MET:amp;BRAF:V600E BRAF inhibitor;EGFR mAb inhibitor Vemurafenib;Panitumumab Resistant Case report PMID:27325282 RDientsmann 12/16 COREAD TRUE Vemurafenib + Panitumumab (BRAF inhibitor + EGFR mAb inhibitor) Colorectal adenocarcinoma NTRK3 (G623R) NTRK3 MUT NTRK3:G623R [novel TRK inhibitor] [] Responsive Case report PMID:28578312 RDientsmann 07/17 CANCER TRUE novel TRK inhibitors Any cancer type FLT3-ITD FLT3 MUT FLT3::consequence::inframe_variant:572-630 BCL2 inhibitor Venetoclax Resistant Early trials PMID:27520294 DTamborero;CRubio-Perez;SDemajo;RShadrina 10/16 AML TRUE ITD (codified as inframe) in Juxtamembrane domain Venetoclax (BCL2 inhibitor) Acute myeloid leukemia TSC1 oncogenic mutation TSC1 MUT TSC1:. [MTOR inhibitor] [] Responsive Early trials PMID:23312829;PMID:21525172;PMID:20048174 RDientsmann 01/16 RA TRUE MTOR inhibitors Renal angiomyolipoma TSC1 oncogenic mutation TSC1 MUT TSC1:. Indirect Approved MTOR inhibitor Everolimus Responsive Early trials PMID:22923433 RDientsmann 01/16 BLCA TRUE TSC1 or TSC2 mutated Everolimus (MTOR inhibitor) Bladder TSC1 oncogenic mutation TSC1 MUT TSC1:. MTOR inhibitor Everolimus Responsive Case report PMID:24622468;PMID:26859683;ASCO 2015 (abstr 11010);ASCO 2015 (abstr 4519) RDientsmann 01/16 R TRUE Everolimus (MTOR inhibitor) Renal TSC1 oncogenic mutation TSC1 MUT TSC1:. Approved MTOR inhibitor Everolimus Responsive FDA guidelines FDA DTamborero 04/16 GCA TRUE Tuberous sclerosis complex in 80% of cases = mutations in TSC1 or TSC2 Everolimus (MTOR inhibitor) Giant cell astrocytoma TSC1 oncogenic mutation TSC1 MUT TSC1:. Approved MTOR inhibitor Everolimus Responsive Case report PMID:26859683 RDientsmann 06/16 S;ST TRUE Everolimus (MTOR inhibitor) Sarcoma;Stomach TSC1 oncogenic mutation TSC1 MUT TSC1:. Approved MTOR inhibitor Everolimus Responsive FDA guidelines FDA ARodriguez-Vida 09/15 RA RA TRUE TSC positive.Renal angilypoma is benign tumor Everolimus (MTOR inhibitor) Renal angiomyolipoma TSC1 deletion TSC1 CNA TSC1:del MTOR inhibitor Everolimus Responsive Case report PMID:24622468;ASCO 2015 (abstr 11010);ASCO 2015 (abstr 4519) RDientsmann 01/16 R TRUE Everolimus (MTOR inhibitor) Renal TSC2 oncogenic mutation TSC2 MUT TSC2:. [MTOR inhibitor] [] Responsive Early trials PMID:23312829;PMID:21525172;PMID:20048174 RDientsmann 01/16 RA TRUE MTOR inhibitors Renal angiomyolipoma TSC2 oncogenic mutation TSC2 MUT TSC2:. [SRC inhibitor] [] Responsive Pre-clinical PMID:24691995 RDientsmann LAM TRUE SRC inhibitors Lymphangioleiomyomatosis TSC2 deletion TSC2 CNA TSC2:del [SRC inhibitor] [] Responsive Pre-clinical PMID:24691995 RDientsmann LAM TRUE Lymphangioleiomyomatosis (LAM) is a rare, progressive, systemic disease that typically results in cystic lung destruction SRC inhibitors Lymphangioleiomyomatosis TSC2 oncogenic mutation TSC2 MUT TSC2:. Indirect Approved MTOR inhibitor Everolimus Responsive Early trials PMID:22923433 RDientsmann 01/16 BLCA TRUE TSC1 or TSC2 mutated Everolimus (MTOR inhibitor) Bladder TSC2 oncogenic mutation TSC2 MUT TSC2:. Approved MTOR inhibitor Everolimus Responsive FDA guidelines FDA ARodriguez-Vida;DTamborero 04/16 RA;GCA RA TRUE TSC positive.Renal angilypoma is benign tumor Everolimus (MTOR inhibitor) Renal angiomyolipoma;Giant cell astrocytoma TSC2 (Q1178*) TSC2 MUT TSC2:Q1178* Indirect Approved MTOR inhibitor Everolimus Responsive Case report PMID:25295501 CRubio-Perez;RDientsmann 01/16 THCA TRUE Everolimus (MTOR inhibitor) Thyroid carcinoma TSC2 (E66K) TSC2 MUT TSC2:E66K MTOR inhibitor Tensirolimus Responsive Case report PMID:27016228 RDientsmann 07/16 ED TRUE Tensirolimus (MTOR inhibitor) Endometrium SMO (D473H) SMO MUT SMO:D473H SHH inhibitor Vismodegib Resistant Case report PMID:19726788;PMID:25759019 RDientsmann MB TRUE Vismodegib (SHH inhibitor) Medulloblastoma U2AF1 oncogenic mutation U2AF1 MUT U2AF1:. [FLT3 inhibitor] [] Responsive Pre-clinical PMID:27397505 RDientsmann 07/16 CANCER TRUE FLT3 inhibitors Any cancer type UGT1A1 biallelic inactivation UGT1A1 BIA UGT1A1:. Approved TOPO1 inhibitor Irinotecan Increased Toxicity FDA guidelines FDA DTamborero;CRubio-Perez 01/16 CANCER TRUE Irinotecan (TOPO1 inhibitor) Any cancer type UGT1A1 (G71R,P229Q) UGT1A1 MUT UGT1A1:G71R,P229Q Approved TOPO1 inhibitor Irinotecan Increased Toxicity FDA guidelines FDA DTamborero;CRubio-Perez 01/16 CANCER TRUE Irinotecan (TOPO1 inhibitor) Any cancer type UGT1A1 biallelic inactivation UGT1A1 BIA UGT1A1:. Approved BCR-ABL inhibitor 2nd gen Nilotinib Increased Toxicity (Hyperbilirubinemia) FDA guidelines FDA DTamborero;CRubio-Perez 01/16 CANCER TRUE Nilotinib (BCR-ABL inhibitor 2nd gen) Any cancer type UGT1A1 (G71R,P229Q) UGT1A1 MUT UGT1A1:G71R,P229Q Approved BCR-ABL inhibitor 2nd gen Nilotinib Increased Toxicity (Hyperbilirubinemia) FDA guidelines FDA DTamborero;CRubio-Perez 01/16 CANCER TRUE Nilotinib (BCR-ABL inhibitor 2nd gen) Any cancer type UGT1A1 biallelic inactivation UGT1A1 BIA UGT1A1:. Approved VEGFR inhibitor Pazopanib Increased Toxicity (Hyperbilirubinemia) FDA guidelines FDA DTamborero;CRubio-Perez 01/16 CANCER TRUE Pazopanib (VEGFR inhibitor) Any cancer type VEGFA amplification VEGFA CNA VEGFA:amp Pan-TK inhibitor Sorafenib Responsive Early trials PMID:24687604 RDientsmann 01/16 HC TRUE Sorafenib (Pan-TK inhibitor) Hepatic carcinoma VHL oncogenic mutation VHL MUT VHL:. Indirect Approved [VEGFR inhibitor] [Sorafenib,Sunitinib,Bevacizumab,Axitinib] Responsive Pre-clinical Retrospective analysis PMID:18635227 ARodriguez-Vida 09/15 R TRUE VEGFR inhibitors (Sorafenib,Sunitinib,Bevacizumab,Axitinib,etc) Renal SMO (D473H,D473G,W535L,L412F,W281C,Q477E,G497W) SMO MUT SMO:D473H,D473G,W535L,L412F,W281C,Q477E,G497W SHH inhibitor Vismodegib Resistant Case report PMID:25759020;PMID:25306392 DTamborero;RDientsmann 04/16 BCC TRUE Vismodegib (SHH inhibitor) Basal cell carcinoma ZNRF3 oncogenic mutation ZNRF3 MUT ZNRF3:. [Porcupine inhibitor] [] Responsive Pre-clinical PMID:26023187 RDientsmann COREAD TRUE Porcupine inhibitors Colorectal adenocarcinoma