Genetic counseling and genetic testing in the preoperative evaluation of breast cancer patients

Breast cancers arising in the context of germline BRCA gene mutation have unique biological features that must be considered during treatment planning. Breast conserving surgery is an acceptable option in highly motivated women who are fully informed about the risks of ipsilateral breast tumor recurrence and contralateral breast cancer. Partial breast irradiation is not recommended for these women. Concurrent bilateral salpingo-oophorectomy should be considered. BRCA1- associated breast cancer may be resistant to taxanes, but appears highly sensitive to platinum agents and to PARP inhibitors. Preoperative genetic testing can be accomplished with short turn around times and does not increase patient anxiety. Inclusion of a professional genetic counselor in the management team is essential. BRCA gene mutation status is emerging as an important prognostic and predictive factor for breast cancer patients. Preoperative genetic counseling and testing is recommended for women likely to carry a BRCA gene mutation.