Background  

Advances in understanding molecular and genetic mechanisms underlying cancer promise an “individualized” management of the disease. Women with a BRCA1 or BRCA2 germ-line mutation are at very high risk of breast and/or ovarian cancer. Because high-quality data are lacking from randomized trials, prevention strategies and treatment of patients with BRCA-associated breast cancer are complex.

Methods  

The data for this review were obtained by searching PubMed and Medline for articles about optimizing prevention and treating women with familial susceptibility to breast and ovarian cancer.

Results  

Prophylactic surgery is the rational approach for women who carry the BRCA mutation; chemoprevention and/or intensified surveillance represent alternative approaches. Prophylactic bilateral salpingo-oophorectomy is superior to bilateral prophylactic mastectomy. However, reaching a definitive clinical decision is complex, and several variables should be considered for an individualized approach. Accumulating data support the concept of more extensive surgery for newly diagnosed breast cancer in women with a BRCA mutation but new unbaised studies are needed for an evidence-based approach . Such patients treated with breast conservation therapy for early-stage breast cancer are at higher risk of contralateral breast cancer than noncarriers. Primary bilateral mastectomy could also be considered and discussed with these patients. Breast tumors from BRCA1 mutation carriers are predominantly of basal subtype (i.e., triple negative), and BRCA2 mutation carriers are of luminal subtype (i.e., estrogen receptor positive). Decisions on adjuvant treatment are based on estrogen receptor, progesterone receptor, and HER2 status.

Conclusions  

The complex management of healthy women and breast cancer patients with familial susceptibility to breast and ovarian cancer requires an individualized prevention or treatment strategy by an experienced team.