Definition:
- BRCA1 and BRCA2 are human genes that produce proteins responsible for DNA repair via homologous recombination, a key mechanism to maintain genomic stability.
Clinical Significance:
- Germline mutations in BRCA1 or BRCA2 impair DNA repair, leading to increased risk of developing breast, ovarian, and other cancers.
- Carriers have a higher lifetime risk of breast cancer (up to 70%) and ovarian cancer (up to 40% for BRCA1).
Implications for Therapy:
- Tumors with BRCA mutations are more sensitive to DNA-damaging agents (e.g., platinum chemotherapy) and PARP inhibitors (e.g., olaparib).
- BRCA testing guides risk assessment, screening, preventive strategies, and targeted treatment selection.
Pharmacist Role:
- Understand the impact of BRCA status on treatment choices and counseling.
- Monitor for specific toxicities associated with platinum agents and PARP inhibitors.
- Educate patients on genetic testing implications and treatment adherence.
Synonyms
BRCA, BRCA1, BRCA2, BRCA Mutation,