The place of androgen receptor gene mutation analysis in the molecular diagnosis of prostate cancer and genotype–phenotype relationship

Authors: FUAT KIZILAY, MUSTAFA SERDAR KALEMCİ, ADNAN ŞİMŞİR, BURAK TURNA, OKTAY NAZLI, AFİG BERDELİ

Abstract: To determine the relationship between androgen receptor (AR) gene polymorphism and prostate cancer in our society. Materials and methods: Thirty-nine patients diagnosed with prostate cancer and 34 benign prostatic hyperplasia (BPH) patients who were diagnosed in 2010 met the study criteria. The inclusion criteria included patients whose diagnosis was confirmed with a biopsy, with the presence of adequate pathologic material for review, between the ages of 40 and 80, and who were healthy men without a family history of prostate cancer. The exclusion criteria excluded men diagnosed with another cancer and those who had kin with a history of prostate cancer. A direct DNA sequencing method was utilized for detection of polymorphisms. Results: CAG repeat length varied from 13 to 28 (mean: 21.67) for the BPH group and 12 to 28 (mean: 21.74) for the prostate cancer group. Prostate-specific antigen (PSA) density and the androgen receptor (AR) CAG repeat had a statistically significant negative correlation in the BPH group. A statistically significant difference was associated between AR CAG repeat and PSA density. Conclusion: Randomized prospective studies should be planned with larger patient and control groups and with more variables, which may open new horizons in prostate cancer screening and early detection.

Keywords: Androgen receptor, mutation, polymorphism, prostatic hyperplasia, prostatic neoplasm

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