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.
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Wooster, R., Mangion, J., Eeles, R. et al. A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome. Nat Genet 2, 132–134 (1992). https://doi.org/10.1038/ng1092-132
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DOI: https://doi.org/10.1038/ng1092-132
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