Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-related Cancer in Women: U.S. Preventive Services Task Force Recommendation Statement

Ann Intern Med. 2014 Feb 18;160(4):271-81. doi: 10.7326/M13-2747.


Description: Update of the 2005 U.S. Preventive Services Task Force (USPSTF) recommendation on genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility.

Methods: The USPSTF reviewed the evidence on risk assessment,genetic counseling, and genetic testing for potentially harmful BRCA mutations in asymptomatic women with a family history of breast or ovarian cancer but no personal history of cancer or known potentially harmful BRCA mutations in the family. The USPSTF also reviewed interventions aimed at reducing the risk for BRCA-related cancer in women with potentially harmful BRCA mutations, including intensive cancer screening, medications, and risk-reducing surgery.

Population: This recommendation applies to asymptomatic women who have not been diagnosed with BRCA-related cancer.

Recommendation: The USPSTF recommends that primary care providers screen women who have family members with breast, ovarian, tubal, or peritoneal cancer with 1 of several screening tools designed to identify a family history that may be associated with an increased risk for potentially harmful mutations in breast cancer susceptibility genes (BRCA1 or BRCA2). Women with positive screening results should receive genetic counseling and, if indicated after counseling, BRCA testing. (B recommendation)The USPSTF recommends against routine genetic counseling or BRCA testing for women whose family history is not associated with an increased risk for potentially harmful mutations in the BRCA1 or BRCA2 genes. (D recommendation).

Publication types

  • Practice Guideline
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Breast Neoplasms / genetics
  • Breast Neoplasms / prevention & control*
  • Fallopian Tube Neoplasms / genetics
  • Fallopian Tube Neoplasms / prevention & control*
  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Counseling*
  • Genetic Predisposition to Disease
  • Genetic Testing*
  • Humans
  • Mutation
  • Ovarian Neoplasms / genetics
  • Ovarian Neoplasms / prevention & control*
  • Risk Assessment*