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Romanowicz‐Makowska, Hanna; Smolarz, Beata; Połać, Ireneusz; Sporny, Stanisław

Single nucleotide polymorphisms of RAD51 G135C, XRCC2 Arg188His and XRCC3 Thr241Met homologous recombination repair genes and the risk of sporadic endometrial cancer in Polish women

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  • Media type: E-Article
  • Title: Single nucleotide polymorphisms of RAD51 G135C, XRCC2 Arg188His and XRCC3 Thr241Met homologous recombination repair genes and the risk of sporadic endometrial cancer in Polish women
  • Contributor: Romanowicz‐Makowska, Hanna; Smolarz, Beata; Połać, Ireneusz; Sporny, Stanisław
  • imprint: Wiley, 2012
  • Published in: Journal of Obstetrics and Gynaecology Research
  • Language: English
  • DOI: 10.1111/j.1447-0756.2011.01811.x
  • ISSN: 1341-8076; 1447-0756
  • Keywords: Obstetrics and Gynecology
  • Origination:
  • Footnote:
  • Description: <jats:title>Abstract</jats:title><jats:p><jats:bold>Background: </jats:bold> The genes <jats:italic>RAD51</jats:italic>, <jats:italic>XRCC2</jats:italic> and <jats:italic>XRCC3</jats:italic> encode proteins that are important for the repair of double‐strand DNA breaks by homologous recombination. Therefore, genetic variability in these genes may contribute to the occurrence and progression of endometrial cancer.</jats:p><jats:p><jats:bold>Methods: </jats:bold> The subject of investigation in the reported study was the distribution of genotypes and the prevalence of alleles of the <jats:italic>RAD51</jats:italic> G135C, <jats:italic>XRCC2</jats:italic> Arg188His and <jats:italic>XRCC3</jats:italic> Thr241Met polymorphism in 230 cases of sporadic endometrial cancer; the polymorphisms were determined by polymerase chain reaction–restriction fragment‐length polymorphism methods.</jats:p><jats:p><jats:bold>Results: </jats:bold> The obtained results demonstrated a significant positive association between the <jats:italic>RAD51</jats:italic> C/C genotype and endometrial carcinoma, with an adjusted odds ratio (OR) of 3.75 (<jats:italic>P</jats:italic> &lt; 0.0001). The homozygous C/C genotype was found in 72% of endometrial cancer cases and in 19% of the used controls. The variant 135C allele of <jats:italic>RAD51</jats:italic> increased the cancer risk (OR = 1.64 [1.28–2.10]<jats:italic>P</jats:italic> &lt; 0.0001). There were no significant differences between the distribution of G135C, Arg188His and Thr241Met genotypes in the subgroups assigned to histological grades.</jats:p><jats:p><jats:bold>Conclusions: </jats:bold> The obtained results indicate that the polymorphism of <jats:italic>RAD51</jats:italic>, but not of either <jats:italic>XRCC2</jats:italic> or <jats:italic>XRCC3</jats:italic> genes, may be positively associated with the incidence of endometrial carcinoma in the population of Polish women. Further studies, including those on a larger group of patients, are required to further clarify this point.</jats:p>