Genetic Risk Assessment and Brca Mutation Testing for Breast and Ovarian Cancer Susceptibility

Summary of recommendations:
The U.S. Preventive Services Task Force(USPSTF) recommends against routine referral for genetic counseling or routine breast cancer susceptibility gene(BRCA) testing for women whose family history is not associated with an increased risk for deleterious mutations in breast cancer susceptibility gene 1(BRCA1) or breast cancer susceptibility gene 2(BRCA2).

The USPSTF recommends that women whose family history is associated with an increased risk for deleterious mutations in BRCA1 or BRCA2 genes be referred for genetic counseling and evaluation for BRCA testing.

The USPSTF found fair evidence regarding important adverse ethical, legal, and social consequences that could result from routine referral and testing of these women. Interventions such as prophylactic surgery, chemoprevention, or intensive screening have known harms. The USPSTF estimated that the magnitude of these potential harms is small or greater. The USPSTF concluded that the potential harms of routine referral for genetic counseling or BRCA testing in these women outweigh the benefits.
The USPSTF also found insufficient evidence regarding important adverse ethical, legal, and social consequences that could result from referral and testing of high-risk women. Prophylactic surgery is associated with known harms. The USPSTF estimated that the magnitude of these potential harms is small. The USPSTF concluded that the benefits of referring women with an increased-risk family history to suitably trained health care providers outweigh the harms.

2.History and condition
Women that are found to be carriers of a BRCA1/2 mutation have a 43 and 35% risk of contra-lateral breast cancer with BRCA1 and BRCA2 mutations, respectively [8] and a 42–48% risk of ipsilateral breast cancer recurrence by 13 years [9].
Women newly diagnosed with breast cancer with a BRCA mutation must choose whether to undergo BCT, unilateral mastectomy, or prophylactic bilateral mastectomies to prevent future breast cancers [1]. The incidence of another tumor developing in the treated breast increases in BRCA mutation carriers with longer follow-up [1] and it also varies with the type of local therapy [2]. Pierce et al. found that there was a significantly increased risk of local tumor recurrence in BRCA1 and BRCA2 mutation carriers treated with BCT compared to carriers treated with mastectomy at 10 years (10.5% versus 3.5%) and at 20 years (30.2% versus 5.5%) [2].
Compared with non-carriers, BRCA1 and BRCA2 mutation carriers have a substantially increased lifetime risk of contra-lateral breast cancer that is age dependent but can be up to 68%, if the age of the first cancer is