What are the guidelines for BRCA testing in breast cancer risk assessment?

Updated: Dec 16, 2019
  • Author: Jessica Katz, MD, PhD, FACP; Chief Editor: Marie Catherine Lee, MD, FACS  more...
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Current genetic sequencing tests can accurately detect BRCA mutations. Initial testing of a family member who has breast or ovarian cancer is the preferred strategy in most cases, but it is reasonable to test the patient if no affected relative is available.

Several organizations have published guidelines concerning the use of genetic testing for BRCA mutations. [45, 46, 47, 48, 49] Their recommendations include the following:

  • Testing should be done only when an individual has personal or family history that suggests an inherited cancer susceptibility.
  • Testing of an individual without a cancer diagnosis should only be considered when an appropriate affected family member is unavailable for testing.
  • Testing must be voluntary.
  • Informed consent (by the patient or a legal proxy) is necessary and should encompass pretest education and counseling about the risks, benefits, and limitations of genetic testing, including the implications of both positive and negative results.
  • The patient should have access to a health professional who is trained to provide genetic counseling and interpret test results
  • The patient should receive pretest and posttest counseling.
  • Testing should be done only if the results will aid in diagnosis or medical management of the patient or family member who has hereditary risk for cancer.
  • Patients found to be mutation carriers should be encouraged to advise close family members to obtain genetic counseling.

The American Congress of Obstetricians and Gynecologists and the Society of Gynecologic Oncologists recommend genetic risk assessment for women who have more than a 20% to 25% risk for an inherited predisposition to breast and ovarian cancer, and suggest that it may be helpful for patients with more than a 5% to 10% risk. [45]

The United States Preventive Services Task Force (USPSTF) recommends that women who have family members with breast, ovarian, tubal, or peritoneal cancer undergo screening with a risk assessment tool designed to identify increased risk for carriage of BRCA mutations. The USPSTF recommends that women with positive screening results receive genetic counseling and, if indicated after counseling, BRCA testing. [16]

However, the USPSTF recognizes that each risk assessment tool has limitations. The USPSTF evaluated the Ontario Family History Assessment Tool, Manchester Scoring System, Referral Screening Tool, Pedigree Assessment Tool, and FHS-7, and found insufficient comparative evidence to recommend one tool over another. [16]

The USPSTF advises that general breast cancer risk assessment models (eg, the National Cancer Institute Breast Cancer Risk Assessment Tool, which is based on the Gail model) are not designed to identify women who should receive genetic counseling or BRCA testing. The USPSTF also found insufficient evidence to support a specific risk threshold for referral for testing. [16]


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