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Gene Polymorphism of DNA Excision Repair in Pathogenesis of Malignancy

机译：恶性肿瘤发病机制中DNA切除修复的基因多态性

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The interaction towards a risk of breast cancer in the ethnically homogeneous group of the Chechens and the polymorphism of DNA repair genes was studied: XPC (rs2228000, rs2228001) XPA (rs 1800975) ERCC2 (rs13181; rs1799793). DNA samples taken from venous blood of 241 women diagnosed with breast cancer and of other 300 representatives of a control group were used. According to the study, no significant connection was found between the alleles of the studied polymorphisms of DNA repair and breast cancer genes; the exception is in a minor allele of ERCC2 rs13181 gene (OR = 1.33 with 95% CI 1.06 - 1.79). However, regression analysis revealed some significant links (p <0.05) between XPC rs2228000 polymorphism and a risk in developing breast cancer OR = 4.80 (95% CI 1.56 - 14.78) and OR = 8.95 (95% CI 2.92 - 27.44), respectively. Also, reliable connections were noted for recessive model AA / CA + CC of the XPC gene (rs2228001): OR = 0.63 (95% CI 0.40 - 0.98). Likewise, some significant associations (p <0.05) were observed in TT / TG + GG recessive models of polymorphic variants of ERCC2 rs13181 OR = 2.39 95% CI 1.30 - 4.39 and AA / AG + GG rs1799793 (OR = 2.26 95% CI 1.33 - 3.83). The experiment results showed that recessive GG homozygote raises a possibility towards breast tumor formations (OR = 2.39 with 95% CI 1.30 - 4.39) and can be used in a diagnostic panel to determine a risk rate in breast cancer in the Chechen population.
机译：研究了在线均匀组中乳腺癌风险的相互作用和DNA修复基因的多态性：XPC（RS2228000，RS2228001）XPA（RS1800975）ERCC2（RS13181; RS1799793）。使用从诊断患有乳腺癌和其他300个代表的241名患者的静脉血液中取出的DNA样本。根据该研究，在DNA修复和乳腺癌基因的研究的多态性等位基因之间没有发现显着的连接;异常是ERCC2 RS13181基因的次要等位基因（或= 1.33，95％CI 1.06 - 1.79）。然而，回归分析揭示了XPC RS2228000多态性之间的一些显着的链接（P <0.05），以及发育乳腺癌或= 4.80（95％CI 1.56-14.78）和或= 8.95（95％CI 2.92-27.44）的风险。此外，XPC基因的隐性模型AA / CA + CC（RS2228001）：OR = 0.63（95％CI 0.40-0.98），应注意可靠连接。同样，在TT / TG + GG隐性模型中观察到一些显着的关联（P <0.05）的ERCC2 RS13181或= 2.39 95％CI 1.30-4.39和AA / AG + GG RS1799793（OR = 2.26 95％CI 1.33） - 3.83）。实验结果表明，隐性GG Homozygote引发了乳腺肿瘤形成的可能性（或= 2.39，含有95％CI 1.30-4.39），可用于诊断面板，以确定车臣人群中乳腺癌的风险率。

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