Ovarian Cancer Screening in High Risk Women

In contrast to the 1.5% lifetime risk of ovarian cancer for women in the general population, women with a BRCA1 mutation have a 39% to 46% lifetime risk of ovarian cancer, and women with a BRCA2 mutation have a 12% to 20% lifetime risk of ovarian cancer3,4 (Fig. 6-8). Although prophylactic bilateral salpingo-oophorectomy (BSO) remains the mainstay of ovarian cancer prevention in these high-risk individuals, strategies for screening and early detection are important for high-risk women who have not yet chosen to undergo the surgical procedure or who are unwilling to do so. Given that the mean age of diagnosis of ovarian cancer in women with a BRCA1 or BRCA2 mutation may be 10 to 15 years earlier than 61 years—the mean age of diagnosis in women with sporadic ovarian cancer—screening strategies in the high-risk cohort need to be focused primarily on premenopausal women. This is in contrast to general population screening for ovarian cancer, which is focused primarily on postmenopausal women. It is important to state from the outset that there are no prospective randomized trials that have demonstrated a decrease in mortality from ovarian cancer screening in high-risk women. Nonetheless, consensus groups, including the National Comprehensive Cancer Network (NCCN), recommend ovarian cancer screening for women with BRCA1 or BRCA2 mutations because of the significant risk of ovarian cancer.46 More specifically, the NCCN recommends CA-125 and TVUS every six months in women with known BRCA1 or BRCA2 mutations, starting at age 35 or 5 to 10 years earlier than the age at first diagnosis of ovarian cancer in the family.

The majority of studies of ovarian cancer screening in high-risk individuals have been retrospective reports from single institutions. In this section several screening studies of high-risk individuals are described. In addition, the ongoing prospective screening trials in high-risk women are discussed.

At least 10 retrospective analyses of ovarian cancer screening in high-risk women have been published, and most describe a single institution's experience. In many of these studies, a formal screening regimen was not consistently applied, compliance

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