The United States Preventive Services Task Force (USPSTF) has issued guidelines regarding the use of genetic screening for BRCA1 or BRCA2 mutations involved in breast cancer. This is the first time this task force has issued any guidelines involving genetic screening in cancer.
The USPSTF is an independent panel of primary care and prevention experts who provide recommendations to help guide medical practice. Although these recommendations are not mandatory in clinical practice, many physicians and healthcare providers follow the guidelines provided by the panel.
BRCA1 and BRCA2 mutations are associated with significant increases in the risk of developing breast and/or ovarian cancer. However, the overall incidence of BRCA1/2 mutations, even among women with a strong family history of breast or ovarian cancer, remains small; therefore, genetic testing for these mutations for all women with a family history of breast or ovarian cancer is not feasible. The USPSTF has issued guidelines that recommend against routing testing for BRCA1 or BRCA2 mutations, except in the following situations (guidelines inclusive of women who have not yet been diagnosed with breast or ovarian cancer):
- Women with known family history of BRCA1/2 mutations should seek genetic counseling and possible testing for BRCA1/2 mutations.
- Women with any of the following specific family history should seek genetic counseling and possible testing for BRCA1/2 mutations:
1) Among non-Ashkenazi Jewish women-
- Two first-degree relatives with breast cancer; one of whom received the diagnosis at age 50 years or younger
- A combination of 3 or more first- or second-degree relatives with breast cancer regardless of age at diagnosis
- A combination of both breast and ovarian cancer among first- and second- degree relatives
- A first-degree relative with bilateral breast cancer
- A combination of 2 or more first- and second-degree relatives with ovarian cancer regardless of age at diagnosis
- A first- or second-degree relative with both breast and ovarian cancer at any age
- A history of breast cancer in a male relative
2) Among Ashkenazi Jewish women-
- Any first-degree relative with breast or ovarian cancer
- Two second-degree relatives on the same side of the family with breast or ovarian cancer
Any other pattern of family history of breast and/or ovarian cancer has a very low risk of being attributed to BRCA1 or BRCA2 mutations. Therefore, the USTPSF has recommended against routine genetic testing for BRCA1 or BRCA2 except in the specific cases listed.
Women with a family history of breast or ovarian cancer or those who have known family members with BRCA1 or BRCA2 mutations should speak with their physician regarding their individual risks and benefits of genetic testing.
Reference: U.S. Preventive Services Task Force. Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility: Recommendation Statement. Annals of Internal Medicine. 2005; 143: 355-361.