Managing hereditary breast cancer risk in women with and without ovarian cancer

Gynecol Oncol. 2017 Jul;146(1):205-214. doi: 10.1016/j.ygyno.2017.04.013. Epub 2017 Apr 25.


Current guidelines recommend that all women with ovarian cancer undergo germline genetic testing for BRCA1/2. Increasingly, genetic testing is being performed via panels that include other genes that confer a high or moderate risk of breast cancer. In addition, many women with a family history of breast or ovarian cancer are not found to have a mutation, but may have increased risk of breast cancer for which surveillance and risk reduction strategies are indicated. This review discusses how to assess and manage an increased risk of breast cancer through surveillance, preventive medications, and risk-reducing surgery. Assessing and managing the increased risk of breast cancer in BRCA1/2 mutation carriers after a diagnosis of ovarian cancer can be challenging. For the first few years after an ovarian cancer diagnosis, BRCA1/2 mutation carriers have a relatively low risk of breast cancer, and their prognosis is largely determined by the ovarian cancer. However, if these women remain in remission after two years, the risk of breast cancer becomes comparable with, and in some cases exceeds, their risk of ovarian cancer recurrence. For these women, breast cancer surveillance and risk reduction becomes important to their overall health. Specifically, for BRCA1/2 carriers who are diagnosed with early-stage ovarian cancer, we recommend regular breast cancer surveillance and consideration of risk reduction with medication and/or prophylactic mastectomy. For women with advanced ovarian cancer who do not achieve remission, breast cancer surveillance or prophylaxis is not of value. However, among carriers with more favorable advanced disease, it is reasonable to initiate breast cancer surveillance. Patients with less favorable advanced stage disease who achieve sustained remission (>2-5years) should also consider more aggressive strategies for breast cancer screening and prevention. For mutation carriers who remain in remission after five years, prophylactic mastectomy can be considered.

Keywords: Breast cancer; Genetic testing; Ovarian cancer; Surveillance.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Breast Neoplasms / diagnosis
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / prevention & control*
  • Female
  • Genes, BRCA1
  • Genes, BRCA2
  • Genetic Predisposition to Disease
  • Germ-Line Mutation
  • Humans
  • Ovarian Neoplasms / genetics*