Association of the rs1042522 SNP with prostate cancer risk: a study of cancer tissues, primary tumor cultures and serum samples from a European Caucasian population

ABSTRACT Prostate cancer (PCa) is the most common cancer in men and the third leading cause of cancer death in Europe. The TP53 gene, the most frequently mutated gene in human cancer, is a tumor suppressor gene with crucial functions in preventing tumor development. The single nucleotide polymorphism rs1042522, characterized by the substitution of a proline (PRO) for an arginine (ARG) at the position 72 of the p53 protein (P72R SNP), was studied in 12 primary tumor cultures from prostate biopsies of untreated hormone-naïve patients (hnPCs) with aggressive-metastatic cancer (Gleason ≥8), 11 radical prostatectomies, and a cohort of 94 serums from patient with aggressive prostate cancer using DNA sequencing and melting curve analysis. The results identified a high frequency of the P72R SNP in prostate cancer samples compared to the general European (non-cancer) population, suggesting a very significant association (p<0.0001) between this SNP and the risk of prostate cancer with an odds ratio of 7.937 (IC 95% 5.37-11.00). The G allele (R72) was more frequent in patients with high Gleason scores (≥8) suggesting its association to more undifferentiated-malignant PCa lesions.