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

  1. Heidi D. Nelson, MD, MPH;
  2. Laurie Hoyt Huffman, MS;
  3. Rongwei Fu, PhD; and
  4. Emily L. Harris, PhD, MPH
  1. From Oregon Health & Science University and Kaiser Permanente Center for Health Research, Portland, Oregon.
    1. Figure 1. Key question ( ) 1: Do risk assessment and 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 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 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 or .
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      Figure 1. Key question ( ) 1: Do risk assessment and 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 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 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 or . Analytic framework.KQBRCABRCABRCABRCA1BRCA2
    2. Figure 2. Error bars represent 95% CIs. IBIS = International Breast Cancer Intervention Study.
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      Figure 2. Error bars represent 95% CIs. IBIS = International Breast Cancer Intervention Study. Relative risks for breast cancer in chemoprevention trials.
    3. Figure 3. NNS = number needed to screen. *Based on estimates for mastectomy. †Based on estimates for oophorectomy.
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      Figure 3. NNS = number needed to screen. *Based on estimates for mastectomy. †Based on estimates for oophorectomy. Yield of testing forBRCAmutations in a hypothetical population based on assumptions in Table 6.
    4. Appendix Figure. ELSI = ethical, legal, and social implications.
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      Appendix Figure. ELSI = ethical, legal, and social implications. Yield of literature search and review.

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