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BRCA1/2-Related Cancer, Risk Assessment, Genetic Counseling, and Genetic Testing, 2019

* Indicates an old grade definition


Recommendations: Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA1/2-Related Cancer

  • BRCA 1/2- Related Cancer, Screening and Counseling --Women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or an ancestry associated withBRCA1/2 gene mutation
    Grade: B
    Specific Recommendations:

    The USPSTF recommends that primary care clinicians assess women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or who have an ancestry associated with breast cancer susceptibility 1 and 2 (BRCA 1/2) gene mutations with an appropriate brief familial risk assessment tool. Women with a positive result on the risk assessment tool should receive genetic counseling and, if indicated after counseling, genetic testing.

    Frequency of Service:

    Consideration of screening for potentially harmful BRCA mutations should begin once women have reached the age of consent (18 years). Primary care providers should periodically assess all patients for changes in family history (for example, comprehensive review at least every 5 to 10 years)

    Risk Factor Information:

    Patients with family or personal histories of breast, ovarian, tubal, or peritoneal cancer or ancestry associated with harmful < i>BRCA1/2 mutations should be assessed using a familial risk assessment tool. The USPSTF found adequate evidence that these tools are accurate in identifying women with increased likelihood of < i>BRCA1/2mutations. Tools evaluated by the USPSTF include the Ontario Family History Assessment Tool, Manchester Scoring System, Referral Screening Tool, Pedigree Assessment Tool, 7-Question Family History Screening Tool, International Breast Cancer Intervention Study instrument (Tyrer-Cuzick), and brief versions of BRCAPRO. These tools should be used to guide referrals to genetic counseling. Persons should consider their sex at birth to determine which recommendation best applies to them.

  • BRCA1/2-Related Cancer: Risk Assessment, Genetic Counseling, and Genetic Testing --Women whose personal or family history or ancestry is not associated with potential harmfulBRCA1/2gene mutations
    Grade: D
    Specific Recommendations:

    The USPSTF recommends against routine risk assessment, genetic counseling, or genetic testing for women whose personal or family history or ancestry is not associated with potentially harmful BRCA1/2 gene mutations.

    Frequency of Service:

    No Frequency of Service information currently available.

    Risk Factor Information:

    Patients with family or personal histories of breast, ovarian, tubal, or peritoneal cancer or ancestry associated with harmful BRCA1/2 mutations should be assessed using a familial risk assessment tool. The USPSTF found adequate evidence that these tools are accurate in identifying women with increased likelihood of BRCA1/2mutations. Tools evaluated by the USPSTF include the Ontario Family History Assessment Tool, Manchester Scoring System, Referral Screening Tool, Pedigree Assessment Tool, 7-Question Family History Screening Tool, International Breast Cancer Intervention Study instrument (Tyrer-Cuzick), and brief versions of BRCAPRO. These tools should be used to guide referrals to genetic counseling.

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