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首页> 外文期刊>Anticancer Research: International Journal of Cancer Research and Treatment >Analysis of MSH2 Loss of Heterozygosity, Expression, and IVS10+12G A Polymorphism in Sporadic Colon Cancer
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Analysis of MSH2 Loss of Heterozygosity, Expression, and IVS10+12G A Polymorphism in Sporadic Colon Cancer

机译:杂合性,表达和IVS10 + 12G&gt的MSH2丧失分析。 孢子癌癌症中的多态性

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Background: mutS homolog 2 (MSH2) deficiency may be involved in the development of microsatellite instability found in certain sporadic colorectal tumors. In addition to mutations or loss of heterozygosity resulting in complete loss of MSH2 function, polymorphisms affecting MSH2 expression have been also identified. Therefore, the aim of this study was to examine MSH2 status in sporadic colon cancer. Materials and Methods: MSH2 status was examined at the DNA, RNA and protein levels through loss of heterozygosity (LOH) analysis, quantitative real-time PCR and immunohistochemistry. MSH2 IVS10+12AG polymorphism was examined by real-time single nucleotide polymorphism genotyping. Results: MSH2 LOH was more frequent in tumors larger than 5 cm (p=0.032), mRNA expression was also significantly lower and the same expression pattern was present in the corresponding normal mucosa of the same patient (p=0.013 and p=0.008, respectively). No association was found between IVS10+12AG polymorphism and susceptibility to sporadic colon cancer. Conclusion: Altered MSH2 expression detected in sporadic colon tumors pointing to its role in colorectal tumorigenesis without a hereditary component.
机译:背景:Muts同源物2(MSH2)缺乏可能参与在某些散发性结肠直肠肿瘤中发现的微卫星不稳定性的发展。除了产生完全丧失MSH2功能的杂合性的突变或损失之外,还鉴定了影响MSH2表达的多态性。因此,本研究的目的是在散发性结肠癌中检查MSH2状态。材料和方法:通过杂合性(LOH)分析,定量实时PCR和免疫组化,在DNA,RNA和蛋白质水平上检查MSH2状态。通过实时单核苷酸多态性基因分型检查G多态性MSH2 IVS10 + 12A&gt。结果:MSH2 LOH在大于5cm的肿瘤中更频繁(p = 0.032),mRNA表达也显着降低,相同患者的相应正常粘膜中存在相同的表达模式(p = 0.013和p = 0.008,分别)。 IVS10 + 12A& G多态性和对散发性结肠癌的易感性之间没有结合。结论:在散发性结肠肿瘤中检测到的MSH2表达,指向其在没有遗传组分的结直肠癌中的作用。

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