A GERMLINE MUTATION IN THE ANDROGEN RECEPTOR GENE IN 2 BROTHERS WITH BREAST-CANCER AND REIFENSTEIN SYNDROME

被引：194

作者：

WOOSTER, R

MANGION, J

EELES, R

SMITH, S

DOWSETT, M

AVERILL, D

BARRETTLEE, P

EASTON, DF

PONDER, BAJ

STRATTON, MR

机构：

[1] ROYAL MARSDEN HOSP, ACAD UNIT RADIOTHERAPY, SUTTON SM2 5PT, SURREY, ENGLAND

[2] UNIV CAMBRIDGE, DEPT PATHOL, CANC RES CAMPAIGN, HUMAN CANC GENET RES GRP, CAMBRIDGE CB2 1QP, ENGLAND

[3] ROYAL MARSDEN HOSP, DEPT PATHOL, LONDON SW3 6JJ, ENGLAND

来源：

NATURE GENETICS | 1992年 / 2卷 / 02期

关键词：

D O I：

10.1038/ng1092-132

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：132 / 134

页数：3

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