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

Eur J Gynaecol Oncol. 2012;33(4):406-10.

Abstract

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% CI 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.

MeSH terms

  • 5' Untranslated Regions / genetics*
  • Adult
  • Aged
  • Female
  • Genotype
  • Humans
  • Middle Aged
  • Ovarian Neoplasms / etiology
  • Ovarian Neoplasms / genetics*
  • Poland
  • Polymorphism, Single Nucleotide*
  • Rad51 Recombinase / genetics*

Substances

  • 5' Untranslated Regions
  • RAD51 protein, human
  • Rad51 Recombinase