BRCA1 Risk Assessment Guidelines Reaffirmed

The United States Preventive Services Task Force has reviewed its guidelines on the use of screening and testing for breast cancer susceptibility genes in asymptomatic women with a family history of malignancy

medwireNews: The United States Preventive Services Task Force (USPSTF) has reaffirmed its recommendations on the management of asymptomatic women with a family history of cancer that indicates a high risk for the presence of the breast cancer susceptibility genes BRCA1 or BRCA2.

The updated guideline, published in the Annals of Internal Medicine, continues to support the Task Force’s 2005 advice that primary care providers should use a screening tool to determine whether women aged over 18 years with one or more family members affected by breast, ovarian, tubal or peritoneal cancer are at high risk for carrying BRCA1 or BRCA2.

The review compared eight screening tools – including the Ontario Family History Assessment Tool, the Manchester Scoring System and the Referral Screening Tool – to determine which patients should be referred for counselling and potential genetic screening.

The tools, which determine risk for a susceptibility Gene according to factors such as family members affected, ethnicity, tumour types, and age at disease onset, were all found to have greater than 85% sensitivity but there was not enough evidence to recommend the use of one tool over another.

By contrast, primary care physicians should avoid using general breast cancer risk assessments for this patient population as they are not designed to identify which patients may benefit from genetic testing, the updated USPSTF guidelines state.

Nor should primary care physicians refer women with a family history unlikely to be associated with an increased risk for carrying a breast cancer susceptibility gene for routine screening or genetic testing, write Heidi Nelson, from Oregon Health & Science University in Portland, USA, and co-authors.

For women who screen positive, the guidelines recommend that counselling should be offered to discuss the implications of genetic testing, to identify the best person within the family to undergo genetic testing – preferably a family member with cancer – and the options for risk management in women found to carry a susceptibility mutation.

The Task Force guidelines also discuss the implications of test results indicating a potentially harmful mutation, and for women with genetic variants of uncertain clinical significance, as well as uninformative negative tests (no known mutation in relatives), or true-negative tests (known mutation in relatives).

The USPSTF also reviews the potential harms and benefits of interventions available for women with a positive result, such as intensive breast or ovarian screening, use of tamoxifen or raloxifene, and risk-reducing surgery such as mastectomy and oophorectomy.


Moyer VA, U.S. Preventive Services Task Force. Screening for ovarian cancer: U.S. Preventive Services Task Force reaffirmation recommendation statement. Ann Intern Med 2012;157(12):900-4.

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