Table 1 Targeted sequencing panel and actionable genes as per ESMO guidelines
From: Clinical implications of prospective genomic profiling of metastatic breast cancer patients
Gene | Alteration type | |
|---|---|---|
LEVEL 1: “known actionable alteration” | ||
AKT1 | E17K, other pathogenic mutations | |
BRCA1/ BRCA2 | Germline mutations | |
ESR1 | Somatic mutations, previously reported | |
ERBB2 | Amplification and mutation | |
PIK3CA | Somatic mutations | |
PTEN | Homozygous deletions, loss of function mutations | |
LEVEL 2: “potentially actionable alteration” | ||
ARID1A | Somatic mutations | |
ATM | Somatic mutations | |
BRCA1/BRCA2 | Somatic mutations | |
CDH1 | Somatic mutations | |
ERBB3 | Somatic mutations | |
HRAS | Somatic mutations | |
IGF1R | Somatic mutations | |
INPP4B | Somatic mutations | |
MAP2K4 | Somatic mutations | |
MAP3K1 | Somatic mutations | |
MDM2 | Amplifications | |
PIK3R1 | Somatic mutations | |
RB1 | Somatic mutations | |
Non-actionable genes | ||
AKT2 | FANCC | NRAS |
AKT3 | FANCG | PALB2 |
ALK | FBXW7 | PDGFRA |
APC | FGFR1 | PIK3R3 |
AXIN2 | FGFR2 | PMS2 |
BAP1 | FGFR3 | PRKAR1A |
BLM | FGFR4 | PTCH1 |
BMPR1A | FH | PTPN11 |
BRAF | FLCN | RAD51C |
BRIP1 | FOXA1 | RAD51D |
BUB1B | GATA3 | RECQL4 |
CASP8 | KIT | RET |
CBFB | KRAS | RUNX1 |
CCND1 | MAP2K1 | SDHA |
CCND2 | MAX | SDHB |
CDC73 | MCL1 | SDHC |
CDK4 | MEN1 | SDHD |
CDKN2A | MET | SF3B1 |
CHEK2 | MLH1 | SMO |
CTNNB1 | KMT2D | STK11 |
DDB2 | KMT2C | TBX3 |
EGFR | MSH2 | TMEM127 |
ERBB4 | MSH6 | TP53 |
ERCC2 | MUTYH | TSC1 |
ERCC3 | NBN | TSC2 |
ERCC4 | NCOR1 | VHL |
ERCC5 | NF2 | WT1 |
EXT1 | NOTCH1 | XPA |
FANCA | NOTCH2 | XPC |