A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome. |
| |
| Authors: | R Wooster J Mangion R Eeles S Smith M Dowsett D Averill P Barrett-Lee D F Easton B A Ponder M R Stratton |
| |
| Institution: | Section of Molecular Carcinogenesis, Institute of Cancer Research, Belmont, Sutton, Surrey, UK. |
| |
| 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. |
| |
| Keywords: | |
|
|
