A1 Refereed original research article in a scientific journal
Germline mutation analysis of the androgen receptor gene in Finnish patients with prostate cancer
Authors: Koivisto PA, Hyytinen ER, Matikainen M, Tammela TLJ, Ikonen T, Schleutker J
Publisher: LIPPINCOTT WILLIAMS & WILKINS
Publication year: 2004
Journal: Journal of Urology
Journal name in source: JOURNAL OF UROLOGY
Journal acronym: J UROLOGY
Volume: 171
Issue: 1
First page : 431
Last page: 433
Number of pages: 3
ISSN: 0022-5347
DOI: https://doi.org/10.1097/01.ju.0000089774.99728.ef
Abstract
Purpose: Steroid hormones, particularly androgens, are suspected to have a major role in prostate carcinogenesis. Since androgen receptor mediates androgenic effects on cells and recent studies suggest that the androgen receptor gene is a putative prostate cancer susceptibility locus, we screened the coding region of the androgen receptor gene for germline mutations using the genomic DNA of patients with prostate cancer.Materials and Methods: DNA samples from 38 patients with early onset prostate cancer and 36 from Finnish prostate cancer families showing no male-to-male transmission of prostate cancer were analyzed for mutations in the androgen receptor gene using single strand conformation polymorphism analysis and subsequent sequencing.Results: R726L substitution in the hormone binding region of androgen receptor was found in 1 prostate cancer family but no previously uncharacterized germline mutations were detected.Conclusions: Our results indicate that constitutional androgen receptor mutations explain only a small fraction of familial and early onset prostate cancer cases in Finland.
Purpose: Steroid hormones, particularly androgens, are suspected to have a major role in prostate carcinogenesis. Since androgen receptor mediates androgenic effects on cells and recent studies suggest that the androgen receptor gene is a putative prostate cancer susceptibility locus, we screened the coding region of the androgen receptor gene for germline mutations using the genomic DNA of patients with prostate cancer.Materials and Methods: DNA samples from 38 patients with early onset prostate cancer and 36 from Finnish prostate cancer families showing no male-to-male transmission of prostate cancer were analyzed for mutations in the androgen receptor gene using single strand conformation polymorphism analysis and subsequent sequencing.Results: R726L substitution in the hormone binding region of androgen receptor was found in 1 prostate cancer family but no previously uncharacterized germline mutations were detected.Conclusions: Our results indicate that constitutional androgen receptor mutations explain only a small fraction of familial and early onset prostate cancer cases in Finland.
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