Gene/protein | Anticancer agent | Indications | Biomarker | Routine testing |
---|---|---|---|---|
ALK | Crizotinib, ceritinib, alectinib, lorlatinib, brigatinib | NSCLC | ALK translocation | FISH, IHC |
Androgen receptor (AR) | Abiraterone, enzalutamide, dalurotamide, apalutamide | Prostate cancer | AR expression | IHC |
BCL-2 | Venetoclax | Chronic myeloid leukemia | BCL-2 protein expression, BCL-2 amplification/translocation | IHC, FISH |
BCR/ABL | Imatinib, dasatinib, nilotinib, bosutinib, ponatinib | Chronic myeloid leukemia | BCR/ABL1 fusion | IHC (FISH, DNA/RNA sequencing), PCR1 |
BRAF | Dabrafenib+trametinib, vemurafenib+cobimetinib, encorafenib+binimetinib | Melanoma, NSCLC, anaplastic thyroid cancer, hairy cell leukemia | BRAF V600E/K mutations | IHC, PCR1, DNA sequencing |
BRCA | Olaparib, talazoparib, rucaparib | Breast cancer, ovarian cancer | Germline/somatic BRCA 1/2 mutations | DNA sequencing |
C-KIT, PDGFR | Imatinib | Gastrointestinal stromal tumor | c-KIT Exon 9 and 11 mutations, PDGFR mutations | IHC, DNA sequencing |
PDGFRB | Imatinib | Myelodysplastic/myeloproliferative syndromes | PDGFRB rearrangement | FISH |
Estrogen/progesterone receptors (ER/PR) | Tamoxifen, raloxifene, fulvestrant, toremifine | Breast cancer | ER/PR expression | IHC |
erBB2/HER-2 | Trastuzumab, pertuzumab, ado-trastuzumab, emtansine, neratinib | Breast cancer, gastric cancer | HER-2 protein expression, HER-2 amplification | IHC, FISH |
EGFR | Gefitinib, erlotinib, afatinib, dacomitinib | NSCLC | EGFR exon 19 deletion, exon 21 L858R mutation | DNA sequencing, PCR1 |
Osimertinib | EGFR T790M mutation | |||
FGFR2/3 | Erdafitinib | Bladder cancer | FGFR3 mutations, FGFR2/3 fusions | DNA sequencing, FISH |
FLT3 | Midostaurin, gilteritinib | Acute myeloid leukemia | FLT3 mutations | DNA sequencing, PCR1 |
IDH1/2 | Ivosidenib, enasidenib | Acute myeloid leukemia | IDH1/2 mutations | IHC, DNA sequencing |
MET | Crizotinib (breakthrough designation) | NSCLC | MET amplification, MET exon 14 alterations | FISH, DNA/RNA sequencing |
MSI-H or dMMR | Pembrolizumab | MSI-H or dMMR solid tumors | MLH1, MSH2, MSH6, PMS2 protein expression, MSI high | IHC, DNA sequencing, PCR1 |
Nivolumab and ipilimumab | Colorectal cancer | |||
NTRK | Larotrectinib, entrectinib | Solid tumors with NTRK fusions | NTRK protein expression, NTRK fusion | IHC, FISH, DNA/RNA sequencing |
PI3KCA | Alpelisib | Breast cancer | PI3KCA mutation | DNA sequencing |
PI3K (alpha and delta) | Copanlisib | Follicular lymphoma | PI3K mutation | DNA sequencing |
PI3K (delta and gamma) | Duvelisib | Chronic lymphocytic leukemia, small lymphocytic lymphoma | PI3K mutation | DNA sequencing |
RAS (negative predictor) | Cetuximab, panitumumab | Colorectal cancer | KRAS/NRAS wildtype | DNA sequencing |
RET | LOXO-292 (breakthrough designation) | NSCLC, medullary thyroid cancer | RET fusion, RET mutation | FISH, DNA/RNA sequencing |
ROS1 | Crizotinib, entrectinib | NSCLC | ROS translocation | FISH, DNA/RNA sequencing |