A(870)E MUTATION OF THE ANDROGEN RECEPTOR GENE IN A PATIENT WITH COMPLETE ANDROGEN INSENSITIVITY SYNDROME AND SERTOLI-CELL TUMOR

Authors
KNOKE I JAKUBICZKA S OTTERSEN T GOPPINGER A WIEACKER P
Citation
I. Knoke et al., A(870)E MUTATION OF THE ANDROGEN RECEPTOR GENE IN A PATIENT WITH COMPLETE ANDROGEN INSENSITIVITY SYNDROME AND SERTOLI-CELL TUMOR, Cancer genetics and cytogenetics, 98(2), 1997, pp. 139-141
Citations number
11
Categorie Soggetti
Oncology,"Genetics & Heredity
Journal title
Cancer genetics and cytogenetics → ACNP
ISSN journal
01654608
Volume
98
Issue
2
Year of publication
1997
Pages
139 - 141
Database
ISI
SICI code
0165-4608(1997)98:2<139:AMOTAR>2.0.ZU;2-U
Abstract
In a 60-year-old woman with complete androgen insensitivity syndrome ( CAIS) and Sertoli cell tumor, a germline mutation (A870E) in exon 8 of the androgen receptor (AR) gene could be detected. A sister of the pa tient was also affected by CAIS and developed a Sertoli cell tumor at age 56. The mutation has not been described so far and could be seen i n a causal relationship with the development of this tumor, (C) Elsevi er Science Inc., 1997.