Ovarian Cancer Screening in Women with BRCA1 or BRCA2 Mutations

Although many recommend CA-125 measurement and transvaginal ultrasound every 6 months for women with BRCA1/2 mutations who are at least 35 years old and have not had prophylactic salpingo-oophorectomy, there is little to no evidence suggesting that this approach is effective.

This is one of several reasons why prophylactic salpingo-oophorectomy after women have completed childbearing has become the standard of care.  It remains to be seen whether improved screening tests may be developed in the future; however, given the impact of prophylactic salpingo-oophorectomy on breast cancer risk in women with BRCA1/2 mutations, it is likely to remain an important option for many of them even if an excellent ovarian cancer screening test were to be developed.

Key References – Ovarian Cancer Screening in Women with BRCA1/2 Mutations

Clarke-Pearson DL.  Screening for ovarian cancer.  New England Journal of Medicine 2009; 361:170-7.

Gaarenstroom KN, van der Hiel B, Tollenaar RA, et al. Efficacy of screening women at high risk of hereditary ovarian cancer: results of an 11-year cohort study.  International Journal of Gynecologic Cancer 2006; 16 (Suppl 1):54-9.

Hogg R, Friedlander M.  Biology of epithelial ovarian cancer: implications for screening women at high genetic risk.  Journal of Clinical Oncology 2004; 22:1315-27.

Olivier RI, Lubsen-Brandsma MA, Verhoef S, van Beurden M.  CA125 and transvaginal ultrasound monitoring in high-risk women cannot prevent the diagnosis of advanced ovarian cancer.  Gynecologic Oncology 2006; 100:20-6.