Non-synonymous SNPs of DNA damage repair genes in lung cancer patients

在这项研究中，我们确定了肺癌患者的基因改变，不是从各种外部侮辱或破坏性因素引起的获得性突变的角度，而是从遗传易感性的角度。我们评估了现有数据库中存在的DNA损伤修复基因中的所有非同义SNPs，这将使我们能够检测出与肺腺癌发生密切相关的基因。最后，我们将统计和系统地组织数据，以便于预测患者的癌症风险。结果，我们证实了非同义SNP（XRCCI：Arg194Trp，TDG：Gly199Ser，RAD 9：His239Arg，POLδ1：Arg119His）在肺癌患者中比对照组显著更频繁地存在。比对分析表明，所有包含SNP的区域在脊椎动物中是保守的，并且在正常对照群体中等位基因频率小于1%。这些发现表明，该SNP可能导致表达蛋白的生物活性改变。这些SNPs可以预测健康人肺癌的易感性。

In this study, we identified gene alterations in lung cancer patients, not from the perspective of acquired mutations caused by various external insults or damaging agents, but from the perspective of hereditary predisposition. We evaluated all the non-synonymous SNPs in the DNA damage repair genes that are present in the available databases, which should allow us to detect those that are closely related with the development of lung adenocarcinoma. Finally, we will organize the data statistically and systematically to facilitate the prediction of a patient's cancer risk. As a results, we confirmed that nonsynonymous SNPs (XRCCI: Arg194Trp, TDG: Gly199Ser, RAD9: His239Arg, POLδ1: Arg119His) were present significantly more frequently in lung cancer patients than in a control group. Alignment analysis revealed that all of the region that contained the SNPs conserved among vertebrates, and the allele frequency is less than 1 % in a normal control population. These findings suggest that this SNP may cause an alteration in the biological activity of the expressed protein. These SNPs may allow to predict the susceptibility of lung cancer in a healthy person.