PMS2系统
微卫星不稳定性
MLH1
MSH2
林奇综合征
DNA错配修复
种系突变
生物
MSH6型
一致性
癌症研究
遗传学
病理
突变
医学
癌症
基因
微卫星
结直肠癌
等位基因
作者
Yi Zhang,Huanwen Wu,J Wang,Zhiyong Liang
出处
期刊:PubMed
[National Institutes of Health]
日期:2021-05-08
卷期号:50 (5): 470-475
标识
DOI:10.3760/cma.j.cn112151-20210201-00114
摘要
Although the overwhelming majority of dMMR EEC cases by IHC shows MSI-H by NGS/PCR, there are uncommon discrepant dMMR EEC cases with MSS. They are mostly found in cases with MLH1/PMS2 protein loss caused by MLH1 promoter hypermethylation and rarely related to Lynch syndrome. Both MMR IHC and MSI NGS/PCR tests have their advantages and disadvantages, complimentary to each other.
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