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.
Wooster
R
R
Section of Molecular Carcinogenesis, Institute of Cancer Research, Belmont, Sutton, Surrey, UK.
Mangion
J
J
Eeles
R
R
Smith
S
S
Dowsett
M
M
Averill
D
D
Barrett-Lee
P
P
Easton
D F
DF
Ponder
B A
BA
Stratton
M R
MR
D000368:Aged; D001483:Base Sequence; D001943:Breast Neoplasms / Q000150:complications* / Q000235:genetics*; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005854:Germ Cells; D006801:Humans; D007006:Hypogonadism / Q000150:complications* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D011944:Receptors, Androgen / Q000235:genetics*; D013577:Syndrome
D011944:Receptors, Androgen; D004247:DNA