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子宫内膜癌中的 DNA 修复基因变异。

DNA repair gene variants in endometrial carcinoma.

机构信息

Department of Molecular Medicine, Institute for Experimental Medicine Research, Istanbul University, Vakif Gureba Cad. Capa, 34390, Istanbul, Turkey.

出版信息

Med Oncol. 2012 Dec;29(4):2949-54. doi: 10.1007/s12032-012-0162-7. Epub 2012 Jan 22.

Abstract

Several polymorphisms in the DNA repair gene are thought to have significant effects on cancer risk. In this study, we investigated the association of the polymorphisms in the DNA repair genes, XRCC1 Arg399Gln, XRCC3 Thr241Met, XPD Lys751Gln, XPG Asp1104His, APE1 Asp148Glu, and HOGG1 Ser326Cys, with endometrium cancer risk. Two hundred and sixty-two women were included in the study. Endometrial biopsy was performed, and on the basis of diagnosis and histological examination, women were divided into two groups: a control group (n=158) and an endometrial cancer group (n=104). Genotypes were determined by PCR-RFLP assays in endometrial carcinoma patients and age-matched controls. In this study, we found that the frequencies of Glu+ and Asp/Glu genotypes in APE, Gln/Gln genotype of XRCC1, Met/Met genotype of XRCC3, Cys+ and Ser/Cys genotypes of HOGG1, His+ and Asp/His genotypes of XPG, and Gln+ and Gln/Gln genotypes of XPD are more prevalent in patients than controls. Frequencies of Thr/Thr genotype in XRCC3 were increased in controls compared with patients and seem to be protected from endometrial cancer. Our findings suggest that XRCC1, XRCC3, XPD, XPG, APE1, and HOGG1 genetic variants may be associated with endometrial cancer in Turkish women.

摘要

一些 DNA 修复基因的多态性被认为对癌症风险有显著影响。在这项研究中,我们调查了 DNA 修复基因 XRCC1 Arg399Gln、XRCC3 Thr241Met、XPD Lys751Gln、XPG Asp1104His、APE1 Asp148Glu 和 HOGG1 Ser326Cys 多态性与子宫内膜癌风险的关系。本研究纳入了 262 名女性。进行了子宫内膜活检,根据诊断和组织学检查将女性分为两组:对照组(n=158)和子宫内膜癌组(n=104)。通过聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)在子宫内膜癌患者和年龄匹配的对照组中确定基因型。在这项研究中,我们发现 APE 中的 Glu+和 Asp/Glu 基因型、XRCC1 的 Gln/Gln 基因型、XRCC3 的 Met/Met 基因型、HOGG1 的 Cys+和 Ser/Cys 基因型、XPG 的 His+和 Asp/His 基因型以及 XPD 的 Gln+和 Gln/Gln 基因型在患者中的频率高于对照组。与患者相比,对照组中 XRCC3 的 Thr/Thr 基因型频率增加,似乎对子宫内膜癌有保护作用。我们的研究结果表明,XRCC1、XRCC3、XPD、XPG、APE1 和 HOGG1 基因变异可能与土耳其女性的子宫内膜癌有关。

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