The role of BRCA1/2 genetic testing in perioperative breast cancer management: advancing shared decision-making and personalized care.

Background: BRCA1/2 genetic testing has become essential in breast cancer management, guiding surgical decisions, surveillance, and targeted therapies. While it has revolutionized personalized medicine, challenges remain in its implementation.

Objective: This review summarizes the impacts of BRCA1/2 genetic testing on surgical choices and risk-reducing strategies, plus its role in the therapy of PARP inhibitors.

Methods: We analyzed recent studies, clinical guidelines, and meta-analyses focusing on the clinical utility of BRCA1/2 genetic testing in breast cancer management.

Results: Breast-conserving therapy (BCT) does not conclusively impact survival in BRCA1/2 mutation carriers, making it a viable option for those preferring breast conservation. The benefit of contralateral risk-reducing mastectomy remains uncertain, but it may be considered if the patient understands the risks and benefits. Risk-reducing salpingo-oophorectomy effectively prevents ovarian and fallopian tube cancers and improves survival. MRI is superior to mammography for early cancer detection in high-risk women and is beneficial for surveillance when contralateral mastectomy is not performed. BRCA1/2 testing is also essential for determining eligibility for PARP inhibitor therapy, particularly olaparib, which has shown efficacy in early breast cancer patients with BRCA1/2 mutations in the OlympiA trial.

Conclusion: BRCA1/2 genetic testing enhances personalized breast cancer treatment but presents challenges in patient selection, decision-making, genetic counseling, and insurance coverage. A multidisciplinary approach is essential for shared decision-making and improved outcomes in BRCA1/2 mutation carriers.