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

Nat Genet. 1992 Oct;2(2):132-4. doi: 10.1038/ng1092-132.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Base Sequence
  • Breast Neoplasms / complications*
  • Breast Neoplasms / genetics*
  • DNA / genetics
  • DNA Mutational Analysis
  • Female
  • Germ Cells
  • Humans
  • Hypogonadism / complications*
  • Hypogonadism / genetics*
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation
  • Receptors, Androgen / genetics*
  • Syndrome


  • Receptors, Androgen
  • DNA