A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome.
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Wooster R, Mangion J, Eeles R, Smith S, Dowsett M, Averill D, Barrett-Lee P, Easton DF, Ponder BA, Stratton MR
A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome.
Nat Genet. 1992 Oct;2(2):132-4.
- PubMed ID
- 1303262 [ View in PubMed]
- Abstract
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.