• DOI:10.1038/NG1092-132
Corpus ID: 19780651

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

@article{Wooster1992AGM,
  title={A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome},
  author={R. Wooster and J. Mangion and R. Eeles and S. Smith and M. Dowsett and D. Averill and P. Barrett-Lee and D. Easton and B. Ponder and M. Stratton},
  journal={Nature Genetics},
  year={1992},
  volume={2},
  pages={132-134}
}

R. Wooster, J. Mangion, +7 authors M. Stratton

Published 1992

Biology, Medicine

Nature Genetics

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… CONTINUE READING

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