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={Richard Wooster and Jonathan Mangion and Rosalind A Eeles and Simon Smith and Mitchell Dowsett and Diane Averill and Peter J. Barrett-Lee and Douglas F. Easton and Bruce A. J. Ponder and Michael R. Stratton},
  journal={Nature Genetics},
  year={1992},
  volume={2},
  pages={132-134}
}
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