Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility: Systematic Evidence Review for the U.S. Preventive Services Task Force

View larger version (17K): [in a new window]   Figure 1. Analytic framework. Key question (KQ) 1: Do risk assessment and BRCA mutation testing lead to a reduction in the incidence of breast and ovarian cancer and cause-specific or all-cause mortality? KQ 2A: How well does risk assessment for cancer susceptibility by a clinician in a primary care setting select candidates for BRCA mutation testing? KQ 2B: What are the benefits of genetic counseling before testing? KQ 2C: Among women with family histories predicting an average, moderate, or high risk for a deleterious mutation, how well does BRCA mutation testing predict risk for breast and ovarian cancer? KQ 3: What are the adverse effects of risk assessment, genetic counseling, and testing? KQ 4: How well do interventions reduce the incidence and mortality of breast and ovarian cancer in women identified as high risk by history, positive genetic test results, or both? KQ 5: What are the adverse effects of interventions? *Indicates clinically significant mutation of BRCA1 or BRCA2.

View larger version (31K): [in a new window]   Figure 2. Relative risks for breast cancer in chemoprevention trials. Error bars represent 95% CIs. IBIS = International Breast Cancer Intervention Study.

View this table: [in a new window]   Appendix Table. Inclusion and Exclusion Criteria according to Key Question

View larger version (25K): [in a new window]   Figure 3. Yield of testing for BRCA mutations in a hypothetical population based on assumptions in Table 6. NNS = number needed to screen. *Based on estimates for mastectomy. Based on estimates for oophorectomy.

View larger version (21K): [in a new window]   Appendix Figure. Yield of literature search and review. ELSI = ethical, legal, and social implications.