Clinical Characteristics and Choices Regarding Risk-Reducing Surgery in BRCA Mutation Carriers

Background/Aims: BRCA mutation carriers have a high lifetime risk of developing breast and ovarian malignancies. As genetic testing becomes widely available, preventative measures are a choice. We evaluated the characteristics of BRCA mutation carriers who chose prophylactic surgery (PS) compared to those who opted for surveillance. Methods: A retrospective chart review of patients with a mutation in the BRCA1 or BRCA2 genes was performed. Results: Ninety women were included, of whom 46 (51%) underwent PS. They were more likely to be a BRCA2 mutation carrier, parous, married, employed, and had a prior history of breast cancer. PS included 39 bilateral salpingo-oophorectomies and 13 mastectomies. Pathology was typically benign; however, 15% showed ductal carcinoma in situ of the breast, 8% reported infiltrating ductal carcinoma of the breast, 3% was adenocarcinoma of the fallopian tube, and 3% was adenocarcinoma of the ovary. Conclusion: It is notable that BRCA1 mutation carriers were less inclined to elect for PS. Evaluating the reasons for pursuing PS among women with a BRCA mutation is necessary and will require a larger data set. Longterm follow-up is required to describe the potential side effects of PS on quality of life. Copyright (C) 2010 S. Karger AG, Basel