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土耳其乳腺癌患者中XRCC1基因多态性与癌症风险的关联

Association of the XRCC1 gene polymorphisms with cancer risk in Turkish breast cancer patients.

作者信息

Deligezer Ugur, Dalay Nejat

机构信息

Department of Basic Oncology, Oncology Institute Istanbul University, Istanbul, Turkey.

出版信息

Exp Mol Med. 2004 Dec 31;36(6):572-5. doi: 10.1038/emm.2004.73.

Abstract

The X-ray repair cross-complementing group 1 (XRCC1) gene is believed to play an important role in base excision repair and displays genetic polymorphisms. Data on the role of XRCC1 polymorphisms in cancer susceptibility is inconsistent. In the present study, we investigated the effect of two XRCC1 polymorphisms, Arg194Trp and Arg399Gln, on breast cancer risk in a case- control study involving Turkish breast cancer patients and healthy women. Both alleles exhibited a similar distribution among cases and controls leading to lack of any significant association between the XRCC1 polymorphisms and breast cancer risk, either in homozygotes and heterozygotes or combined. The allele frequency of the codon 194 variant was very low in cases and healthy individuals (5.3 and 3.9%, respectively) compared to that of the variant 399Gln allele (39.7 and 37.4%). Our results do not support evidence for a role of the XRCC1 polymorphism in developing breast cancer.

摘要

X射线修复交叉互补基因1(XRCC1)被认为在碱基切除修复中起重要作用,并表现出基因多态性。关于XRCC1多态性在癌症易感性中的作用的数据并不一致。在本研究中,我们在一项涉及土耳其乳腺癌患者和健康女性的病例对照研究中,调查了XRCC1的两种多态性,即Arg194Trp和Arg399Gln,对乳腺癌风险的影响。在病例组和对照组中,这两个等位基因的分布相似,导致XRCC1多态性与乳腺癌风险之间在纯合子、杂合子或合并分析中均无显著关联。与399Gln变异等位基因(39.7%和37.4%)相比,密码子194变异的等位基因频率在病例组和健康个体中都非常低(分别为5.3%和3.9%)。我们的结果不支持XRCC1多态性在乳腺癌发生中起作用的证据。

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