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

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.

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.

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

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.

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.