Germline mutation analysis of the androgen receptor gene in Finnish patients with prostate cancer

: Koivisto PA, Hyytinen ER, Matikainen M, Tammela TLJ, Ikonen T, Schleutker J

Publisher: LIPPINCOTT WILLIAMS & WILKINS

: 2004

: Journal of Urology

: JOURNAL OF UROLOGY

: J UROLOGY

: 171

: 1

: 431

: 433

: 3

: 0022-5347

DOI: https://doi.org/10.1097/01.ju.0000089774.99728.ef

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.