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Table. 4.

Table. 4.

Level 1 therapeutic implications currently defined in OncoKB

Gene Alterations Cancer types Drugs
ALK Fusions Inflammatory myofibroblastic tumor Crizotinib
Non-small cell lung cancer Alectinib, brigatinib, ceritinib, crizotinib, lorlatinib
ATM, BARD1, BRCA1, BRCA2, BRIP1, CDK12, CHEK1, CHEK2, FANCL, PALB2, RAD51B, RAD51C, RAD51D, RAD54L Oncogenic mutations Prostate cancer (not otherwise specified), prostate cancer Olaparib
BRAF V600 Erdheim–Chester disease Vemurafenib
Melanoma Vemurafenib+atezolizumab+cobimetinib
V600E All solid tumors Dabrafenib+trametinib
Colorectal cancer Encorafenib+cetuximab
Melanoma Dabrafenib, vemurafenib, encorafenib+binimetinib, trametinib, vemurafenib+cobimetinib
V600K Melanoma Encorafenib+binimetinib, trametinib, vemurafenib+cobimetinib, dabrafenib+trametinib
BRCA1, BRCA2 Oncogenic mutations Ovarian cancer, ovary/fallopian tube, peritoneal serous carcinoma Olaparib, olaparib+bevacizumab, niraparib, rucaparib
Prostate cancer (not otherwise specified), prostate cancer Rucaparib
EGFR Exon 19 in-frame deletions, L858R Non-small cell lung cancer Erlotinib, erlotinib+ramucirumab, afatinib, dacomitinib, gefitinib, osimertinib
Exon 20 in-frame insertions Non-small cell lung cancer Amivantamab, mobocertinib
G719, L861Q, S768I Non-small cell lung cancer Afatinib
T790M Non-small cell lung cancer Osimertinib
ERBB2 Amplification Breast cancer Ado-trastuzumab emtansine, lapatinib+capecitabine, lapatinib+letrozole, margetuximab+chemotherapy, neratinib, neratinib+capecitabine, trastuzumab+pertuzumab+chemotherapy, trastuzumab+tucatinib+capecitabine, trastuzumab deruxtecan, trastuzumab, trastuzumab+chemotherapy
Colorectal cancer Tucatinib+trastuzumab
Esophagogastric cancer Pembrolizumab+trastuzumab+chemotherapy, trastuzumab+chemotherapy, trastuzumab deruxtecan
Oncogenic mutations Non-small cell lung cancer Trastuzumab deruxtecan
FGFR2 Fusions Bladder cancer Erdafitinib
Fusions Cholangiocarcinoma Futibatinib, infigratinib, pemigatinib
FGFR3 Fusions Bladder cancer Erdafitinib
G370C, R248C, S249C, Y373C Bladder cancer Erdafitinib
IDH1 R132 Intrahepatic cholangiocarcinoma, cholangiocarcinoma Ivosidenib
KIT D816 Mastocytosis Avapritinib
Oncogenic mutations Gastrointestinal stromal tumor Imatinib, regorafenib, ripretinib, sunitinib
KRAS G12C Non-small cell lung cancer Sotorasib, adagrasib
MET D1010, exon 14 deletion, exon 14 in-frame deletions, exon 14 splice mutations Non-small cell lung cancer Capmatinib, tepotinib
NF1 Oncogenic mutations Neurofibroma Selumetinib
NTRK1, NTRK2, NTRK3 Fusions All solid tumors Entrectinib, larotrectinib
PDGFB COL1A1-PDGFB fusion Dermatofibrosarcoma protuberans Imatinib
PDGFRA Exon 18 in-frame deletions, exon 18 in-frame insertions, exon 18 missense mutations Gastrointestinal stromal tumor Avapritinib
PIK3CA C420R, E542K, E545A, E545D, E545G, E545K, H1047L, H1047R, H1047Y, Q546E, Q546R Breast cancer Alpelisib+fulvestrant
RET Fusions All solid tumors Selpercatinib
Non-small cell lung cancer Pralsetinib, selpercatinib
Thyroid cancer Pralsetinib, selpercatinib
Oncogenic mutations Medullary thyroid cancer Pralsetinib, selpercatinib
ROS1 Fusions Non-small cell lung cancer Crizotinib, entrectinib
SMARCB1 Deletion Epithelioid sarcoma Tazemetostat
TSC1, TSC2 Oncogenic mutations Encapsulated glioma Everolimus
Ann Lab Med 2024;44:195~209 https://doi.org/10.3343/alm.2023.0389

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