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人胃癌中内含子微卫星不稳定性与外显子突变谱的关联

Association of Intron Microsatellite Instability and Exon Mutational Profile of in Human Gastric Cancers.

作者信息

Huo Xueyun, Xiao Xiaoqin, Zhang Shuangyue, Zhou Deshan, Chen Zhenwen

机构信息

School of Basic Medical Sciences, Capital Medical University, Beijing Key Laboratory of Cancer Invasion & Metastasis Research, Beijing, P.R. China.

School of Basic Medical Sciences, Capital Medical University, Beijing Key Laboratory of Cancer Invasion & Metastasis Research, Beijing, P.R. China

出版信息

Anticancer Res. 2017 Aug;37(8):4507-4514. doi: 10.21873/anticanres.11847.

Abstract

BACKGROUND/AIM: Microsatellite instability (MSI) is a hallmark of genomic instability. In gastric cancer (GC), MSI phenotype is an important molecular subgroup that is often closely correlated with elevated mutation rates on the whole genome level. However, on a single gene level, it is still unknown whether the MSI status of a gene is correlated with the mutational profile of the gene itself.

MATERIALS AND METHODS

We analyzed intron MSI status and exon mutational profile of TP53 through short tandem repeat (STR) scanning and direct sequencing respectively in gastric cancers and their matched normal tissues.

RESULTS

MSI status of the TP53 intron was significantly associated with the mutational profile of seven TP53 exon positions (p=0.0416), male patients (p=0.0095), and drinking (p=0.0474), and showed a mild correlation with longer survival time (p=0.0584) and increasing age (p=0.0611).

CONCLUSION

TP53 exons tended to mutation in the status of TP53 intron MSI.

摘要

背景/目的:微卫星不稳定性(MSI)是基因组不稳定的一个标志。在胃癌(GC)中,MSI表型是一个重要的分子亚组,通常与全基因组水平上的突变率升高密切相关。然而,在单个基因水平上,一个基因的MSI状态是否与其自身的突变谱相关仍不清楚。

材料与方法

我们分别通过短串联重复序列(STR)扫描和直接测序分析了胃癌及其配对正常组织中TP53的内含子MSI状态和外显子突变谱。

结果

TP53内含子的MSI状态与7个TP53外显子位置的突变谱(p = 0.0416)、男性患者(p = 0.0095)和饮酒(p = 0.0474)显著相关,并且与较长的生存时间(p = 0.0584)和年龄增长(p = 0.0611)呈轻度相关。

结论

在TP53内含子MSI状态下,TP53外显子易于发生突变。

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