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Table 1 FDA and EMA approved biomarker matching targeted drugs and routine molecular pathology testing [2, 3]

From: Molecular profiling for precision cancer therapies

Gene/proteinAnticancer agentIndicationsBiomarkerRoutine testing
ALKCrizotinib, ceritinib, alectinib, lorlatinib, brigatinibNSCLCALK translocationFISH, IHC
Androgen receptor (AR)Abiraterone, enzalutamide, dalurotamide, apalutamideProstate cancerAR expressionIHC
BCL-2VenetoclaxChronic myeloid leukemiaBCL-2 protein expression, BCL-2 amplification/translocationIHC, FISH
BCR/ABLImatinib, dasatinib, nilotinib, bosutinib, ponatinibChronic myeloid leukemiaBCR/ABL1 fusionIHC (FISH, DNA/RNA sequencing), PCR1
BRAFDabrafenib+trametinib, vemurafenib+cobimetinib, encorafenib+binimetinibMelanoma, NSCLC, anaplastic thyroid cancer, hairy cell leukemiaBRAF V600E/K mutationsIHC, PCR1, DNA sequencing
BRCAOlaparib, talazoparib, rucaparibBreast cancer, ovarian cancerGermline/somatic BRCA 1/2 mutationsDNA sequencing
C-KIT, PDGFRImatinibGastrointestinal stromal tumorc-KIT Exon 9 and 11 mutations, PDGFR mutationsIHC, DNA sequencing
PDGFRBImatinibMyelodysplastic/myeloproliferative syndromesPDGFRB rearrangementFISH
Estrogen/progesterone receptors (ER/PR)Tamoxifen, raloxifene, fulvestrant, toremifineBreast cancerER/PR expressionIHC
erBB2/HER-2Trastuzumab, pertuzumab, ado-trastuzumab, emtansine, neratinibBreast cancer, gastric cancerHER-2 protein expression, HER-2 amplificationIHC, FISH
EGFRGefitinib, erlotinib, afatinib, dacomitinibNSCLCEGFR exon 19 deletion, exon 21 L858R mutationDNA sequencing, PCR1
OsimertinibEGFR T790M mutation
FGFR2/3ErdafitinibBladder cancerFGFR3 mutations, FGFR2/3 fusionsDNA sequencing, FISH
FLT3Midostaurin, gilteritinibAcute myeloid leukemiaFLT3 mutationsDNA sequencing, PCR1
IDH1/2Ivosidenib, enasidenibAcute myeloid leukemiaIDH1/2 mutationsIHC, DNA sequencing
METCrizotinib (breakthrough designation)NSCLCMET amplification, MET exon 14 alterationsFISH, DNA/RNA sequencing
MSI-H or dMMRPembrolizumabMSI-H or dMMR solid tumorsMLH1, MSH2, MSH6, PMS2 protein expression, MSI highIHC, DNA sequencing, PCR1
Nivolumab and ipilimumabColorectal cancer
NTRKLarotrectinib, entrectinibSolid tumors with NTRK fusionsNTRK protein expression, NTRK fusionIHC, FISH, DNA/RNA sequencing
PI3KCAAlpelisibBreast cancerPI3KCA mutationDNA sequencing
PI3K (alpha and delta)CopanlisibFollicular lymphomaPI3K mutationDNA sequencing
PI3K (delta and gamma)DuvelisibChronic lymphocytic leukemia, small lymphocytic lymphomaPI3K mutationDNA sequencing
RAS (negative predictor)Cetuximab, panitumumabColorectal cancerKRAS/NRAS wildtypeDNA sequencing
RETLOXO-292 (breakthrough designation)NSCLC, medullary thyroid cancerRET fusion, RET mutationFISH, DNA/RNA sequencing
ROS1Crizotinib, entrectinibNSCLCROS translocationFISH, DNA/RNA sequencing
  1. AR androgen receptor, dMMR deficient mismatch repair, ER estrogen receptor, FISH fluorescence in situ hybridization, IHC immunohistochemistry, MSI-H high levels of microsatellite instability, NSCLC non-small cell lung cancer, PR progesterone receptor
  2. 1Applications of PCR may include fragment analysis, quantitative PCR, and restriction fragment length polymorphisms