How medical choices influence quality of life of women carrying a BRCA mutation

• We reviewed current literature on QoL in unaffected women carrying a BRCA1/2 mutation.
• General QoL is similar in unaffected BRCA1/2 mutation carriers and the general population.
• Psychological distress is temporarily increased after genetic test disclosure.
• Endocrine and sexual symptoms are very common after RRSO, partially alleviated by HRT.
• Future research should focus on improvement of menopause-related QoL after RRSO.

Germline mutations in BRCA1 and BRCA2 genes were discovered twenty years ago. Female BRCA mutation carriers have an increased risk of breast and ovarian cancer at a relatively young age. Several choices have to be made with respect to cancer risk management, and consequences of these choices may affect quality of life. A review of the literature was performed to evaluate quality of life in unaffected BRCA mutation carriers and the influence of these medical choices. Overall, general quality of life appears not to be permanently affected in BRCA mutation carriers or by their choices. Risk-reducing salpingo-oophorectomy and its subsequent premature menopause affect (menopause specific) quality of life most. Hormone replacement therapy does not fully alleviate climacteric symptoms and therefore, there is a strong need for alternative strategies to reduce ovarian cancer risk and/or for improvements in postoperative care. Future research should focus on these needs.