Genetic Medicine, Manchester Academic Health Science Centre, St. Mary's Hospital, Manchester M13 0JH, UK.
J Med Genet. 2010 Oct;47(10):710-1. doi: 10.1136/jmg.2009.075176. Epub 2010 Jun 28.
The risk of breast cancer for unaffected men who test positive for a BRCA2 mutation is based on very few retrospective studies. We have used both retrospective and prospective analysis in 321 families with pathogenic BRCA2 mutations. Three breast cancers occurred in male first-degree relatives after family ascertainment in 4140 years of follow-up suggesting a risk of breast cancer to 80 years of 8.9%. A second analysis excluding index cases identified 16 breast cancers in 905 first-degree male relatives on which Kaplan-Meier analysis was performed after assigning carrier status. This analysis confirmed that breast cancer risk in men was 7.1% (SE 5.2-8.6%) by age 70 years and 8.4% (SE 6.2-10.6%) by age 80 years.
未受影响的男性 BRCA2 基因突变检测呈阳性者患乳腺癌的风险基于极少数回顾性研究。我们在 321 个携带致病性 BRCA2 突变的家族中同时进行了回顾性和前瞻性分析。在对 4140 年的随访中，家族确定后有 3 例男性一级亲属发生乳腺癌，提示 80 岁时乳腺癌风险为 8.9%。第二次分析排除了索引病例，在分配携带者状态后，对 905 名男性一级亲属中的 16 例乳腺癌进行了 Kaplan-Meier 分析。该分析证实，男性乳腺癌风险在 70 岁时为 7.1%（SE 5.2-8.6%），在 80 岁时为 8.4%（SE 6.2-10.6%）。
