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Background  The identification of a  BRCA1  or  BRCA2  mutation in familial breast cancer kindreds allows genetic testing of at risk relatives. However, considerable controversy exists regarding the cancer risks in women who test positive for the family mutation.    Methods  We reviewed 385 unrelated families (223 with  BRCA1  and 162 with  BRCA2  mutations) ascertained through two regional cancer genetics services. We estimated the penetrance for both breast and ovarian cancer in female mutation carriers (904 proven mutation carriers – 1442 females in total assumed to carry the mutation) and also assessed the effect on penetrance of mutation position and birth cohort.    Results  Breast cancer penetrance to 70 and to 80 years was 68% (95%CI 64.7–71.3%) and 79.5% (95%CI 75.5–83.5%) respectively for  BRCA1  and 75% (95%CI 71.7–78.3%) and 88% (95%CI 85.3–91.7%) for  BRCA2 . Ovarian cancer risk to 70 and to 80 years was 60% (95%CI 65–71%) and 65% (95%CI 75–84%) for  BRCA1  and 30% (95%CI 25.5–34.5%) and 37% (95%CI 31.5–42.5%) for  BRCA2 . These risks were borne out by a prospective study of cancer in the families and genetic testing of unaffected relatives. We also found evidence of a strong cohort effect with women born after 1940 having a cumulative risk of 22% for breast cancer by 40 years of age compared to 8% in women born before 1930 (p = 0.0005).    Conclusion  In high-risk families, selected in a genetics service setting, women who test positive for the familial  BRCA1/BRCA2  mutation are likely to have cumulative breast cancer risks in keeping with the estimates obtained originally from large families. This is particularly true for women born after 1940.

bmc cancer

Penetrance estimates for BRCA1 and BRCA2based on genetic testing in a Clinical Cancer Genetics service setting: Risks of breast/ovarian cancer quoted should reflect the cancer burden in the family