Biomarkers
BRCA Mutation
Also known as: BRCA1/2 mutation, BRCA-mutated
Definition
Mutations in BRCA1 or BRCA2 genes that increase cancer risk and predict response to PARP inhibitors.
Detailed Explanation
BRCA mutations impair DNA repair through homologous recombination. Carriers have higher risks of breast, ovarian, prostate, and pancreatic cancers. Tumors with BRCA mutations are sensitive to platinum chemotherapy and PARP inhibitors (olaparib, rucaparib, niraparib). Testing can be germline (inherited) or somatic (tumor-only).