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Nat Genet. 1992 Oct;2(2):132-4.

A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome.

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  • 1Section of Molecular Carcinogenesis, Institute of Cancer Research, Belmont, Sutton, Surrey, UK.


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.

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