PopulationAsymptomatic women who have not been diagnosed with BRCA-related cancer
RecommendationScreen women whose family history may be associated with an increased risk of potentially harmful BRCA mutations. Women with positive screening results should receive genetic counseling and, if indicated after counseling, BRCA testing.Do not routinely recommend genetic counseling or BRCA testing to women whose family history is not associated with an increased risk of potentially harmful BRCA mutations.
Grade: BGrade: D
Risk assessmentFamily history factors associated with increased likelihood of potentially harmful BRCA mutations include breast cancer diagnosis before 50 years of age, bilateral breast cancer, family history of breast and ovarian cancer, presence of breast cancer in one or more male family members, multiple cases of breast cancer in the family, one or more family members with two 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 testsGenetic risk assessment and BRCA mutation testing are generally multistep processes involving identification of women who may be at increased risk of potentially harmful mutations, followed by genetic counseling by suitably trained health care professionals 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.
TreatmentInterventions in women who are BRCA mutation carriers include earlier, more frequent, or intensive cancer screening; risk-reducing medications (e.g., tamoxifen, raloxifene); and risk-reducing surgery (e.g., mastectomy, salpingo-oophorectomy).
Balance of benefits and harmsIn women whose family history is associated with an increased risk of 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 of potentially harmful BRCA mutations, the net benefit of genetic testing and early intervention ranges from minimal to potentially harmful.
Other relevant USPSTF recommendationsThe 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.