BRCArelated

BRCA-related refers to conditions and issues linked to pathogenic variants in the BRCA1 or BRCA2 genes, best known for their role in hereditary breast and ovarian cancer (HBOC) syndrome. BRCA genes encode tumor suppressor proteins that help repair DNA damage; when they are inactivated, the risk of several cancers rises. The inheritance pattern is autosomal dominant, with high but variable penetrance: a parent with a pathogenic variant has about a 50% chance of passing it to each child, and carriers face substantially higher lifetime cancer risk than the general population.

Cancer risks and spectrum vary by gene. BRCA1 mutation carriers have higher risks of breast and ovarian cancers, with lifetime breast cancer risk commonly estimated around 55–65% and ovarian cancer risk around 40–45%. BRCA2 mutation carriers also have elevated breast cancer risk, typically estimated in the 40–60% range, with ovarian cancer risk about 10–20%. BRCA mutations are also associated with increased risks of other cancers, including male breast cancer, prostate cancer, pancreatic cancer, and melanoma. The risk is influenced by age, other genetic factors, and family history.

Genetic testing and counseling are central to BRCA-related care. Testing is offered to individuals with personal or family history suggesting HBOC, and results can be pathogenic, likely pathogenic, or variants of uncertain significance. A positive result informs risk management for the individual and at-risk relatives; a negative result does not eliminate risk due to other genes or non-genetic factors.

Management options include enhanced surveillance (for example, MRI and mammography starting earlier and more frequently), risk-reducing surgeries (such as bilateral mastectomy or salpingo-oophorectomy), and targeted therapies like PARP inhibitors for BRCA-mutant cancers. Ethical, legal, and access considerations, including counseling and informed decision-making, are important components of care.