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波兰人群中选定的ERCC2和ERCC5基因多态性、氧化性DNA损伤水平及其修复效率与结直肠癌风险的关联。

An association of selected ERCC2 and ERCC5 genes polymorphisms, the level of oxidative DNA damage and its repair efficiency with a risk of colorectal cancer in Polish population.

作者信息

Kabzinski Jacek, Przybylowska Karolina, Dziki Lukasz, Dziki Adam, Majsterek Ireneusz

机构信息

Department of Clinical Chemistry and Biochemistry, Medical University of Lodz, Lodz, Poland.

Department of General and Colorectal Surgery, Medical University of Lodz, Lodz, Poland.

出版信息

Cancer Biomark. 2015;15(4):413-23. doi: 10.3233/CBM-150488.

Abstract

Aim of this study was to analyze the correlation between polymorphisms of ERCC2 and ERCC5 genes and efficiency of repair of oxidative DNA damage with the risk of colorectal cancer (CRC). Experimental material was peripheral blood and tumor slices from CRC collected from 235 patients, 240 people without any cancer were control group. Distribution of polymorphisms of ERCC2 and ERCC5 genes in patients with CRC and healthy subjects, as well as level of oxidative DNA damage in patients and in healthy controls was performed. It has been found that the genotype 751Gln/Gln and allele Gln of ERCC2 gene and allele Asp of 312Asn/Asp polymorphism of ERCC2 gene may be associated with an increased risk of colorectal cancer. Reduced DNA repair efficiency was also demonstrated, which can confirm the important role of oxidative damage and polymorphisms of ERCC2 and ERCC5 genes in the pathogenesis of CRC. In summary, it is critical to establish a link between gene polymorphisms in repair of oxidative DNA damage with the risk of cancer. This in future will allow for diagnostic tests which will let to identify persons with high risk of developing cancer and thus effectively implement prophylactic treatment.

摘要

本研究旨在分析ERCC2和ERCC5基因多态性与氧化DNA损伤修复效率及结直肠癌(CRC)风险之间的相关性。实验材料为从235例患者收集的CRC外周血和肿瘤切片,240名无任何癌症的人作为对照组。对CRC患者和健康受试者中ERCC2和ERCC5基因多态性的分布以及患者和健康对照者中氧化DNA损伤水平进行了检测。研究发现,ERCC2基因的751Gln/Gln基因型、Gln等位基因以及ERCC2基因312Asn/Asp多态性的Asp等位基因可能与结直肠癌风险增加有关。还证实了DNA修复效率降低,这可以证实氧化损伤以及ERCC2和ERCC5基因多态性在CRC发病机制中的重要作用。总之,确定氧化DNA损伤修复中的基因多态性与癌症风险之间的联系至关重要。这在未来将有助于进行诊断测试,从而识别出患癌风险高的人群,进而有效地实施预防性治疗。

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