Association of polymorphisms in the 5′ untranslated region of RAD51 gene with risk of endometrial cancer in the Polish population

PURPOSE: Many of the studies have analyzed cell repair capabilities, following cancer development. The cellular reaction to DNA damaging agents can modulate the susceptibility to various tumors. This reaction is mainly determined by DNA repair efficacy which, in turn, may be influenced by the variability of DNA repair genes, expressed by their polymorphisms. METHODS: This report describes studies of the distribution of genotypes and the frequency of alleles of the G135C (rs1801320) and G172T (rs1801321) RAD51 polymorphism in 630 paraffin-embedded samples of tumor tissue from patients with endometrial cancer. DNA from 630 normal endometrial tissues served as control. RAD51 polymorphisms were determined by PCR–RFLP. RESULTS: In the present work, a relationship was identified between RAD51 G135C polymorphism and the incidence of endometrial cancer. Endometrial cancer patients had an overrepresentation of 135C allele. The 135C/C homozygous variant increased cancer risk. A tendency towards a decreased risk of endometrial cancer was observed with the occurrence of combined G135C–G172G genotype of RAD51 polymorphism. An association was confirmed between RAD51 G135C and G172T polymorphisms and endometrial cancer progression, assessed by the histological grades. CONCLUSIONS: The results support the hypothesis that RAD51 G135C and G172T polymorphisms may be associated with endometrial cancer occurrence and/or progression.