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本文引用的文献

1
Molecular mechanisms of xeroderma pigmentosum (XP) proteins.着色性干皮病（XP）蛋白的分子机制。
Q Rev Biophys. 2016 Jan;49:e5. doi: 10.1017/S0033583515000268. Epub 2016 Feb 10.
2
Efficiency of Base Excision Repair of Oxidative DNA Damage and Its Impact on the Risk of Colorectal Cancer in the Polish Population.波兰人群中氧化性DNA损伤的碱基切除修复效率及其对结直肠癌风险的影响。
Oxid Med Cell Longev. 2016;2016:3125989. doi: 10.1155/2016/3125989. Epub 2015 Nov 16.
3
Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair.胚系 FAN1 突变通过破坏 DNA 修复导致遗传性结直肠癌。
Gastroenterology. 2015 Sep;149(3):563-6. doi: 10.1053/j.gastro.2015.05.056. Epub 2015 Jun 5.
4
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.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。
Cancer Biomark. 2015;15(4):413-23. doi: 10.3233/CBM-150488.
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Cancer incidence and mortality worldwide: sources, methods and major patterns in GLOBOCAN 2012.全球癌症发病与死亡：GLOBOCAN 2012 数据源、方法与主要模式。
Int J Cancer. 2015 Mar 1;136(5):E359-86. doi: 10.1002/ijc.29210. Epub 2014 Oct 9.
6
XPA gene rs1800975 single nucleotide polymorphism and lung cancer risk: a meta-analysis.XPA基因rs1800975单核苷酸多态性与肺癌风险：一项荟萃分析。
Tumour Biol. 2014 Jul;35(7):6607-17. doi: 10.1007/s13277-014-1824-1. Epub 2014 Apr 3.
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Laryngeal cancer risk and common single nucleotide polymorphisms in nucleotide excision repair pathway genes ERCC1, ERCC2, ERCC3, ERCC4, ERCC5 and XPA.喉癌风险与核苷酸切除修复通路基因 ERCC1、ERCC2、ERCC3、ERCC4、ERCC5 和 XPA 中的常见单核苷酸多态性。
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9
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10
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APEX基因51Gln/His、64Ile/Val和148Asp/Glu多态性；XPA基因23Gly/Ala多态性；以及ERCC4基因689Ser/Arg多态性对结直肠癌风险的调节作用

Modulation of Colorectal Cancer Risk by Polymorphisms in 51Gln/His, 64Ile/Val, and 148Asp/Glu of APEX Gene; 23Gly/Ala of XPA Gene; and 689Ser/Arg of ERCC4 Gene.

作者信息

Dziki L, Dziki A, Mik M, Majsterek I, Kabzinski J

机构信息

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

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

出版信息

Gastroenterol Res Pract. 2017;2017:3840243. doi: 10.1155/2017/3840243. Epub 2017 Mar 12.

DOI:10.1155/2017/3840243
PMID:28386271
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5366231/
Abstract

Polymorphisms in DNA repair genes may affect the activity of the BER (base excision repair) and NER (nucleotide excision repair) systems. Using DNA isolated from blood taken from patients ( = 312) and a control group ( = 320) with CRC, we have analyzed the polymorphisms of selected DNA repair genes and we have demonstrated that genotypes 51Gln/His and 148Asp/Glu of APEX gene and 23Gly/Ala of XPA gene may increase the risk of colorectal cancer. At the same time analyzing the gene-gene interactions, we suggest the thesis that the main factor to be considered when analyzing the impact of polymorphisms on the risk of malignant transformation should be intergenic interactions. Moreover, we are suggesting that some polymorphisms may have impact not only on the malignant transformation but also on the stage of the tumor.

摘要

DNA修复基因中的多态性可能会影响碱基切除修复（BER）和核苷酸切除修复（NER）系统的活性。我们从患有结直肠癌的患者（n = 312）和对照组（n = 320）采集的血液中分离出DNA，分析了所选DNA修复基因的多态性，并证明APEX基因的51Gln/His和148Asp/Glu基因型以及XPA基因的23Gly/Ala基因型可能会增加患结直肠癌的风险。同时，在分析基因-基因相互作用时，我们提出这样一个论点：在分析多态性对恶性转化风险的影响时，主要应考虑基因间相互作用。此外，我们还认为某些多态性可能不仅影响恶性转化，还会影响肿瘤分期。