微卫星不稳定性
MLH1
DNA错配修复
林奇综合征
种系突变
一致性
肿瘤科
MSH2
癌
内科学
免疫组织化学
生物
医学
癌症研究
微卫星
突变
基因
遗传学
DNA修复
等位基因
作者
Ye Liu,Y X Wang,Xiao-Wei Sun,Ting Xu,Rui Wu,X. D. Liu,C R Liu
出处
期刊:PubMed
[National Institutes of Health]
日期:2023-10-25
卷期号:58 (10): 755-765
被引量:1
标识
DOI:10.3760/cma.j.cn112141-20230711-00316
摘要
The concordance of MMR-IHC and MSI-NGS in EC is relatively high.The discordance in a few MMR-d EC are mostly found in cases with MLH1 and (or) PMS2 protein loss or MMR protein subclonal staining caused by MLH1 gene promoter hypermethylation. In order to provide accurate molecular typing for EC patients, MLH1 gene methylation, MSI-PCR, MMR gene germline mutation and TMB should be combined to comprehensively evaluate MMR and MSI status.
科研通智能强力驱动
Strongly Powered by AbleSci AI