What are BRCA1 / BRCA2 Mutations?
BRCA1 and BRCA2 are tumor suppressor genes that help repair damaged DNA and maintain genetic stability. Mutations in these genes can lead to impaired DNA repair, significantly increasing the risk of developing certain cancers, particularly breast and ovarian cancer. These mutations are inherited in an autosomal dominant pattern, meaning only one copy of the mutated gene from either parent is enough to increase cancer risk.
Key Features
- Strongly associated with hereditary breast and ovarian cancer syndrome
- Increased lifetime risk of breast cancer (up to 72% with BRCA1, up to 69% with BRCA2)
- Increased lifetime risk of ovarian cancer (up to 44% with BRCA1, up to 17% with BRCA2)
- Also associated with increased risk of pancreatic cancer, prostate cancer, and melanoma
Common Health Implications
- Early-onset breast or ovarian cancer
- Multiple family members affected by related cancers
- Increased need for cancer screening and preventive strategies
How to Reduce the Risk
Lifestyle modifications to lower cancer risk
Genetic testing for individuals with family history of breast, ovarian, pancreatic, or prostate cancer
Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) during IVF to select embryos without BRCA mutations
Prenatal genetic testing for early detection during pregnancy
Enhanced cancer surveillance (e.g., annual MRI and mammogram)
Risk-reducing surgery (e.g., prophylactic mastectomy or salpingo-oophorectomy)