A single nucleotide polymorphism in the 5’ untranslated region of RAD51 and ovarian cancer risk in Polish women

Background. DNA repair gene polymorphisms are known to influence cancer risk. The RAD51 gene encodes proteins essential for maintaining genomic stability by playing a central role in holmology-dependent recombinational repair of the DNA double-strand breaks. Aims. We investigated the association of polymorphisms in the DNA repair genes RAD51-135G>C and 172G>T with ovarian cancer risk. Methods. 120 Polish ovarian cancer patients and 120 healthy controls were genotyped for RAD51 (135G>C and 172G>T) by PCR-RFLP. Results. In the present work no association was detected between ovarian cancer risk and 172G>T polymorphism of the RAD51 gene. The 135G>C polymorphism was associated with ovarian cancer risk. We found evidence of an increased ovarian cancer risk in CC homozygotes (OR 12.97 [95% confidence interval [CI] (5.73 - 29.36)]) but not in heterozygotes (OR 0.55 [95% Cl 0.23 - 1.29]). We demonstrated a significant positive association between the RAD51 variant 135C allele and ovarian carcinoma, with an adjusted odds ratio (OR) of 6.24 (p < .0001). Conclusion. The results indicated that the polymorphism 135G>C of RAD51 may be positively associated with ovarian carcinoma in the Polish population. Further studies on the role of the RAD51 gene on ovarian cancer are warranted.

RAD51; Ovarian cancer; Gene polymorphism

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