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    Hereditary cancers in gynecology: What clinicians need to know

    Identification of women at high risk for hereditary cancer and treatment with risk-reducing measures can be lifesaving


    Ultimately, surgery remains the gold standard for risk reduction in these women. For women with a hereditary predisposition for breast cancer, bilateral mastectomy should be discussed. The benefit of risk-reducing mastectomy has been studied in women with hereditary breast and ovarian cancer syndrome and confers a 90% reduction in breast cancer risk.15 Extrapolating these data, there is likely a similar benefit for women with Cowden and Peutz-Jeghers syndromes.

    Risk-reducing salpingo-oophorectomy has broader benefits for women with hereditary breast and ovarian cancer syndrome. In addition to decreasing the risk of ovarian cancer by 70% to 85%, it has also been shown to decrease breast cancer risk by 54% and all-cause mortality by 60% to 70%.16,17 Because the average age for BRCA1 diagnosis is about 10 years earlier than for BRCA2 and even later for the hereditary ovarian cancer genes (RAD51C, RAD51D, BRIP1),2 timing of oophorectomy varies by genetic mutation (Table 4). 

    With the increased understanding that many high-grade serous cancers arise from the fallopian tube, salpingectomy may be an option for women seeking sterilization or those unwilling to undergo oophorectomy. But it should always be performed in the context of counseling that oophorectomy should be completed at a later time and that we have much more limited data on efficacy of salpingectomy alone in this setting.

    When childbearing is completed, hysterectomy should be strongly considered for women at increased risk of uterine cancer from Lynch or Cowden syndrome because evidence supports its use to decrease risk of ovarian and uterine cancer in women with Lynch syndrome.3,18 Hysterectomy in women with hereditary breast and ovarian cancer syndromes is more controversial, as there is some slight increased risk of uterine serous cancer in women with BRCA1 mutations.19 The absolute increased risk is small; however, the additional benefit of performing hysterectomy for these women is to simplify hormone replacement therapy.2

    While BRCA carriers, and presumably those with any predisposition to ovarian cancer, have a chance of developing a primary peritoneal cancer following risk-reducing oophorectomy, there are no guidelines to direct surveillance of them given limited evidence. Some providers choose to perform annual screening with CA-125, or ultrasound, or simply physical exam.


    Ob/gyns provide care to millions of women and must play a vital role in identifying and managing women at risk for hereditary cancer syndromes. Knowledge in this area is rapidly evolving. Any personal or family history of breast or gynecologic malignancy should prompt further questioning and inquiry. Identification of high-risk women is vital to implement screening and both medical and surgical risk reduction measures that have the ability to save a life.

    NEXT: References

    Susan C. Modesitt, MD
    DR. MODESITT is an Associate Professor and Chief, Division of Gynecologic Oncology, Obstetrics and Gynecology Department, University of ...
    Christine Garcia, MD
    Dr. Garcia is a Fellow in the Gynecologic Oncology Division, Department of Obstetrics and Gynecology, at the University of Virginia in ...


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