Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility

U.S. Preventive Services Task Force

Release Date: September 2005

Summary of Recommendations / Supporting Documents

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Summary of Recommendations

• The U.S. Preventive Services Task Force (USPSTF) recommends against routine referral for genetic counseling or routine breast cancer susceptibility gene (BRCA) testing for women whose family history is not associated with an increased risk for deleterious mutations in breast cancer susceptibility gene 1 (BRCA1) or breast cancer susceptibility gene 2 (BRCA2).

  Rating: "D" recommendation.

  Rationale: The USPSTF found fair evidence that women without certain specific family history patterns, termed here "increased risk family history" (go to Clinical Considerations for a definition), have a low risk for developing breast or ovarian cancer associated with BRCA1 or BRCA2 mutations. Thus, any benefit to routine screening of these women for BRCA1 or BRCA2 mutations, or routine referral for genetic counseling, would be small or zero.

  The USPSTF found fair evidence regarding important adverse ethical, legal, and social consequences that could result from routine referral and testing of these women. Interventions such as prophylactic surgery, chemoprevention, or intensive screening have known harms. The USPSTF estimated that the magnitude of these potential harms is small or greater. The USPSTF concluded that the potential harms of routine referral for genetic counseling or BRCA testing in these women outweigh the benefits.

• The USPSTF recommends that women whose family history is associated with an increased risk for deleterious mutations in BRCA1 or BRCA2 genes be referred for genetic counseling and evaluation for BRCA testing.

  Rating: "B" recommendation.

  Rationale: The USPSTF found fair evidence that women with certain specific family history patterns (increased-risk family history) have an increased risk for developing breast or ovarian cancer associated with BRCA1 or BRCA2 mutations. The USPSTF determined that these women would benefit from genetic counseling that allows informed decision making about testing and further prophylactic treatment. This counseling should be done by suitably trained health care providers. There is insufficient evidence to determine the benefits of chemoprevention or intensive screening in improving health outcomes in these women if they test positive for deleterious BRCA1 or BRCA2 mutations. However, there is fair evidence that prophylactic surgery for these women significantly decreases breast and ovarian cancer incidence. Thus, the potential benefits of referral and discussion of testing and prophylactic treatment for these women may be substantial.

  The USPSTF also found insufficient evidence regarding important adverse ethical, legal, and social consequences that could result from referral and testing of high-risk women. Prophylactic surgery is associated with known harms. The USPSTF estimated that the magnitude of these potential harms is small. The USPSTF concluded that the benefits of referring women with an increased-risk family history to suitably trained health care providers outweigh the harms.

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Supporting Documents

Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility, September 2005
Recommendation Statement (PDF File, 220 KB; PDF Help)
Evidence Review (PDF File, 885 KB; PDF Help)
Evidence Synthesis (PDF File, 3.6 MB; PDF Help)

Top of Page

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Current as of September 2005

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Internet Citation:

Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility, Topic Page. September 2005. U.S. Preventive Services Task Force. Agency for Healthcare Research and Quality, Rockville, MD. http://www.ahrq.gov/clinic/uspstf/uspsbrgen.htm

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