BRCA12

BRCA12 is not an officially recognized gene in human genetics. No standard gene database lists BRCA12 as a distinct locus. In some informal discussions or fictional contexts the term has been used to denote either the pair BRCA1 and BRCA2 or a hypothetical combined locus. This article focuses on BRCA1 and BRCA2, the two well-characterized BRCA genes.

BRCA1 encodes a tumor suppressor protein involved in sensing DNA damage and coordinating repair through multiple pathways, including checkpoint signaling. BRCA2 encodes a protein that directly mediates the essential step of homologous recombination by loading RAD51 onto single-stranded DNA. Together, they support high-fidelity repair of double-strand breaks and help maintain genomic stability.

Pathogenic variants in BRCA1 or BRCA2 markedly increase lifetime risks of breast and ovarian cancer and are associated with elevated risks for several other cancers, including pancreatic and prostate cancer. Penetrance and cancer spectrum vary with specific mutations and family history. Genetic testing typically uses sequencing to identify small mutations and copy-number analysis for large rearrangements, followed by counseling.

Management for carriers may include enhanced screening, risk-reducing surgeries, and consideration of targeted therapies such as PARP inhibitors for BRCA-mutant cancers. Research continues to refine risk estimates, modifier genes, and treatment responses. BRCA1 and BRCA2 were identified in the 1990s, revolutionizing genetic risk assessment for hereditary cancers. The term BRCA12 remains nonstandard outside of informal usage.