Colorectal Cancer Somatic Panel - 69 Gene Region

Definition

The BRAF gene encodes a protein kinase involved in the MAPK pathway, which transmits cell growth signals. Approximately 10% of colorectal cancers carry an acquired (somatic) mutation in BRAF, the vast majority being the V600E change, which keeps the kinase continuously active. Tumors carrying BRAF V600E form a distinct clinical subgroup: often right-sided, occurring at an older age, with high-grade histology, and generally associated with a worse prognosis; it is also linked to unresponsiveness to anti-EGFR therapies. For this reason, knowing BRAF status guides treatment selection.

Gene/region examined

BRAF, FBXW7, KRAS, CTNNB1, NRAS, PIK3CA, APC, DMD, SMAD4, STK11, TCF7L2, TP53, ACVR1B, AKT1, ATM, ATP6V0D2, AXIN2, BAX, BLM, BMPR1A, BRCA1, BRCA2, BUB1B, CASP8, CDC27, CDH1, CDK4, CDKN2A, CHEK2, CTNNA1, DCC, EGFR, ENG, EP300, EPCAM, ERBB2, FGFR3, FLCN, FZD3, GALNT12, GPC6, GREM1, KIT, MAP2K4, MAP7, MET, MIER3, MLH1, MLH3, MSH6, MUTYH, MYO1B, PALB2, PIK3R1, PMS1, PMS2, POLD1, POLE, PTEN, PTPN12, RET, RPS20, SLC9A9, SMAD2, SRC, TCERG1, TGFBR2, SCG5, GALNT17

Method

Next Generation Sequencing

Accepted sample types

Solid Tumor-FFPE

Inheritance

Somatic, not hereditary. BRAF mutations are acquired in tumor cells afterward, are not passed through germ cells, and are not transmitted across generations in a family.

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