Wooster R, Mangion J, Eeles R, Smith S, Dowsett M, Averill D, Barrett-Lee P, Easton D F, Ponder B A, Stratton M R
Section of Molecular Carcinogenesis, Institute of Cancer Research, Belmont, Sutton, Surrey, UK.
Nat Genet. 1992 Oct;2(2):132-4. doi: 10.1038/ng1092-132.
Breast cancer in men is rare--among the risk factors that have been identified are a family history of breast cancer and evidence of androgen insufficiency. We report a family in which two brothers who both developed breast cancer had clinical and endocrinological evidence of androgen resistance. Sequence analysis revealed a mutation in the androgen receptor gene on the X chromosome, within the region encoding the DNA binding domain. This is the first report of a germline mutation in a member of the steroid/thyroid hormone receptor superfamily associated with the development of cancer.
男性乳腺癌较为罕见——已确定的风险因素包括乳腺癌家族史和雄激素不足的证据。我们报告了一个家族，其中两名患乳腺癌的兄弟有雄激素抵抗的临床和内分泌学证据。序列分析显示X染色体上雄激素受体基因在编码DNA结合域的区域内发生了突变。这是首次报道类固醇/甲状腺激素受体超家族成员中的种系突变与癌症发生相关。
