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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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

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.[1]

References

  1. A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome. Wooster, R., Mangion, J., Eeles, R., Smith, S., Dowsett, M., Averill, D., Barrett-Lee, P., Easton, D.F., Ponder, B.A., Stratton, M.R. Nat. Genet. (1992) [Pubmed]
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