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首页> 美国政府科技报告 >Prevalence and Characterization of BRCA2 in Male Breast Cancer Cases.
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Prevalence and Characterization of BRCA2 in Male Breast Cancer Cases.

机译：BRCa2在男性乳腺癌中的流行和特征。

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Male breast cancer is rare, with an incidence rate of 0.5-1/100,000 per year. The objective of this grant was to study male breast cancer cases to estimate the attributable risk of male breast cancer due to BRCA2 mutations. One hundred and eighty-seven Caucasian male breast cancer cases participated, with age at diagnosis ranging from 28-93 years. Of the 183 cases with family history data, 49% had a family history of breast cancer in at least one first- or second-degree relative. Screening for BRCA2 mutations was completed for 175 cases. Thirteen deleterious mutations were identified in 20 cases, including 7 cases with the common 6174delT mutation. Based on mutations known to be deleterious, the prevalence of BRCA2 mutations in male breast cancer is 11.4% (20/175) for all samples, including population-based, clinic-based and self- referred cases. When only considering population-based samples, the prevalence is 6.2% (9/144). Accounting for sensitivity of approximately 80% of our mutation screening method, the prevalence of BRCA2 mutations is 7.8% (9/144)/0.80 for population-based samples only and 14.3% for all samples. Family history is not a good predictor of BRCA2 status. BRCA2 mutations appear to be more prevalent in unselected male cases than in unselected female breast cancer cases.

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