- A draft statement from the US Preventive Services Task Force (USPSTF) recommends that women who have relatives with BRCA-related cancers (breast, ovarian, fallopian tube, peritoneal, or pancreatic) or who have an ethnicity/ancestry linked to BRCA1 or BRCA2 gene mutations should be screened in primary care to determine whether they are at elevated risk for BRCA mutations.
- A positive screen warrants referral to genetic counseling and, if indicated, genetic testing.
- The USPSTF still recommends against routine screening, genetic counseling, and testing of women without a family or personal history or ethnicity/ancestry that puts them at increased risk for BRCA mutations.
Why this matters
- Women who test positive for BRCA mutations may reduce their risk for breast and ovarian cancer by several methods: more frequent screening, risk-reducing medications, or risk-reducing surgery.
- The scientific basis of the USPSTF draft recommendation is from an evidence synthesis.
- Primary care screening should rely on validated risk assessment tools such as the Ontario Family History Assessment Tool or the Manchester Scoring System, among others.
- 1 in 300-500 women carry BRCA mutations, accounting for 5%-10% of breast cancer and 15% of ovarian cancer cases.
- This USPSTF recommendation is more expansive than its 2013 recommendation by including women with ethnicity/ancestry linked to BRCA mutations.