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MSH2 c.793-1G>A 变种破坏正常拼接,并与林奇综合征有关

Yiming Li^1,2,3, Lulu Yu^4,5,6, Jiajia Cui^4,5,6

¹Department of Geratic Surgery, Xiangya Hospital, Central South University, Changsha, Hunan, China.

Frontiers in oncology

|August 4, 2023

概括

这项研究确定了一种新的MSH2基因拼接变异 (c.793-1G>A),导致中国家庭的林奇综合征 (LS). 基因检测对于早期检测和管理这种遗传性癌症倾向至关重要.

科学领域:

遗传学是一个遗传学.
在瘤学瘤学.
分子生物学分子生物学

背景情况:

林奇综合征 (LS) 是一种常见的遗传性癌症倾向,主要与不匹配修复 (MMR) 基因缺陷有关.
结肠直肠癌 (CRC) 是LS患者的一个主要问题.
识别遗传变异是了解LS病因和管理的关键.

研究的目的:

在一个多代中国家庭中确定林奇综合征的遗传原因.
描述一种新型MSH2基因变异的功能影响.
强调LS遗传检测的重要性.

主要方法:

整体外体测序 (WES) 和桑格测序用于识别基因变异.
微卫星不稳定性 (MSI) 测试和免疫组织化学 (IHC) 评估了MMR缺乏.
在体外小基因拼接试验中,研究了该变体的功能影响.

主要成果:

在受影响的家庭成员中,在MSH2基因中发现了一种致病拼接变体 (c.793-1G>A).
这种变异被证实会导致微卫星不稳定性高 (MSI-H) 和缺乏MMR (dMMR).
功能性测试表明,该变种破坏了MSH2拼接,导致蛋白质表达减少.

结论:

一种新的MSH2拼接突变 (c.793-1G>A) 是该家族林奇综合征的致病因素.
这一发现强调了MSH2在LS病变发生过程中的关键作用.
对于处于风险的个体,建议对这种变体进行早期遗传查.

关键词:

林奇综合征是什么? 林奇综合征是什么?在MSH2中,MSH2是MSH2.MSH2 林奇综合征林奇综合征替代性拼接是一种替代性的拼接.不匹配的基因修复基因不匹配的修复基因变种变种变种变种变种

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