About this condition
BRCA2 Gene — Comprehensive Testing
BRCA2 (chromosome 13q13.1) encodes a tumor suppressor essential for homologous recombination. Unlike BRCA1, BRCA2 has a broader cancer spectrum: breast cancer (45-69%), ovarian cancer (11-18%), prostate cancer (~20-30% lifetime, often aggressive), pancreatic cancer (3-10x risk), and male breast cancer (~6-8% lifetime — 80-100x general population risk). BRCA2-associated breast cancers are typically ER-positive (unlike BRCA1's TNBC predominance).
PARP inhibitors are FDA-approved for BRCA2-mutant breast, ovarian, pancreatic (olaparib maintenance), and metastatic castration-resistant prostate cancer (olaparib, rucaparib). BRCA2 identification is particularly impactful for prostate cancer — olaparib is approved specifically for BRCA-mutant mCRPC, transforming outcomes in a disease with limited options after hormonal therapy failure.
RRSO is recommended at age 40-45 for BRCA2 (later than BRCA1's 35-40) due to later ovarian cancer onset. Enhanced prostate cancer screening (PSA from age 40) and pancreatic cancer screening (MRI/EUS from age 50 or 10 years before youngest family case) are recommended for male BRCA2 carriers.
Male breast cancer should always prompt BRCA2 testing — ~6-8% lifetime risk for BRCA2 carriers versus ~0.1% general population. BRCA2 is the most common genetic cause of male breast cancer.
- Gene locus
- BRCA2 (13q13.1)
