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When is BRCA Genetic Testing for Breast and Ovarian Cancer Appropriate?

The US Preventive Services Task Force (USPSTF) recommends against routine referral for BRCA testing if a woman's family history does not suggest an increased risk for harmful BRCA mutations. The USPSTF recommends that women with a family history associated with an increased risk for BRCA mutations be referred to suitably trained health care providers. Read the USPSTF recommendations [PDF - 142KB] and clinical considerations.

Family History Patterns

The U.S. Preventive Services Task Force (USPSTF) recommendations for Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility states:

Certain specific family history patterns are associated with an increased risk for deleterious mutations in the BRCA1 or BRCA2 gene. Both maternal and paternal family histories are important. For non-Ashkenazi Jewish women, these patterns include 2 first-degree relatives with breast cancer, 1 of whom received the diagnosis at age 50 years or younger; a combination of 3 or more first- or second-degree relatives with breast cancer regardless of age at diagnosis; a combination of both breast and ovarian cancer among first- and second-degree relatives; a first-degree relative with bilateral breast cancer; a combination of 2 or more first- or second-degree relatives with ovarian cancer regardless of age at diagnosis; a first- or second-degree relative with both breast and ovarian cancer at any age; and a history of breast cancer in a male relative.

First-degree relatives:
Parents, siblings, children

Second-degree relatives:
Grandparents, uncles, aunts, nieces, nephews

For women of Ashkenazi Jewish heritage, an increased-risk family history includes any first-degree relative (or 2 second-degree relatives on the same side of the family) with breast or ovarian cancer.

About 2 percent of adult women in the general population have an increased-risk family history as defined here. Women with none of these family history patterns have a low probability of having a deleterious mutation in BRCA1 or BRCA2 genes.

More Information

  • Page last reviewed: October 22, 2007
  • Page last updated: October 22, 2007
  • Content source:
    • Office of the Associate Director for Communication, Digital Media Branch, Division of Public Affairs
    • Page maintained by: Office of the Associate Director for Communication, Digital Media Branch, Division of Public Affairs
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