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Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women

Clinical Summary of U.S. Preventive Services Task Force Recommendation

Population Asymptomatic women who have not been diagnosed with BRCA-related cancer
Recommendation Screen women whose family history may be associated with an increased risk for potentially harmful BRCA mutations. Women with positive screening results should receive genetic counseling and, if indicated after counseling, BRCA testing.
Grade: B
Do not routinely recommend genetic counseling or BRCA testing to women whose family history is not associated with an increased risk for potentially harmful BRCA mutations.
Grade: D
Risk Assessment Family history factors associated with increased likelihood of potentially harmful BRCA mutations include breast cancer diagnosis before age 50 years, bilateral breast cancer, family history of breast and ovarian cancer, presence of breast cancer in ≥1 male family member, multiple cases of breast cancer in the family, ≥1 or more family member with 2 primary types of BRCA-related cancer, and Ashkenazi Jewish ethnicity.

Several familial risk stratification tools are available to determine the need for in-depth genetic counseling, such as the Ontario Family History Assessment Tool, Manchester Scoring System, Referral Screening Tool, Pedigree Assessment Tool, and FHS-7.

Screening Tests Genetic risk assessment and BRCA mutation testing are generally multistep processes involving identification of women who may be at increased risk for potentially harmful mutations, followed by genetic counseling by suitably trained health care providers and genetic testing of selected high-risk women when indicated.

Tests for BRCA mutations are highly sensitive and specific for known mutations, but interpretation of results is complex and generally requires posttest counseling.

Treatment Interventions in women who are BRCA mutation carriers include earlier, more frequent, or intensive cancer screening; risk-reducing medications (e.g., tamoxifen or raloxifene); and risk-reducing surgery (e.g., mastectomy or salpingo-oophorectomy).
Balance of Benefits and Harms In women whose family history is associated with an increased risk for potentially harmful BRCA mutations, the net benefit of genetic testing and early intervention is moderate. In women whose family history is not associated with an increased risk for potentially harmful BRCA mutations, the net benefit of genetic testing and early intervention ranges from minimal to potentially harmful.
Other Relevant USPSTF Recommendations The USPSTF has made recommendations on medications for the reduction of breast cancer risk and screening for ovarian cancer. These recommendations are available at http://www.uspreventiveservicestaskforce.org.

For a summary of the evidence systematically reviewed in making these recommendations, the full recommendation statement, and supporting documents, please go to http://www.uspreventiveservicestaskforce.org.

Disclaimer: Recommendations made by the USPSTF are independent of the U.S. government. They should not be construed as an official position of the Agency for Healthcare Research and Quality or the U.S. Department of Health and Human Services.

AHRQ Publication No. 12-05164-EF-3
Current as of December 2013


Internet Citation:

U.S. Preventive Services Task Force. Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: Clinical Summary of USPSTF Recommendation. AHRQ Publication No. 12-05164-EF-3. December 2013. http://www.uspreventiveservicestaskforce.org/uspstf12/brcatest/brcatestsumm.htm



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