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

Wooster, R., Mangion, J., Eeles, R., Dowsett, M., Averill, D., Barrett-Lee, Peter, Easton, D. F., Ponder, B. A. and Stratton, M. R. 1992. A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome. Nature Genetics 2 (2) , pp. 132-134.

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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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Schools > Medicine
Subjects:	R Medicine > R Medicine (General) R Medicine > RC Internal medicine > RC0254 Neoplasms. Tumors. Oncology (including Cancer)
Publisher:	Nature Publishing Group
ISSN:	1061-4036
Last Modified:	10 Oct 2017 14:58
URI:	https://orca.cardiff.ac.uk/id/eprint/44579

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