Molecular analysis of three DNA mismatch repair protein variants in Chinese families with suspected Lynch syndrome

Molecular analysis of three DNA mismatch repair protein variants in Chinese families with suspected Lynch syndrome

PurposeThis study aimed to examine pathogenic variations in three families clinically diagnosed with suspected Lynch syndrome (LS).MethodsThree probands clinically diagnosed suspected LS were subjected to immunohistochemical analysis of DNA mismatch repair (MMR) protein. Whole-exome sequencing and S...

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Main Authors: Juyi Li, Haichun Ni, Peng Cheng, Yujia Peng, Lei Liu, Xiangyang Wang, Wei Cheng, Hengfei Li, Xiufang Wang, Hongfeng Zhang, Jifa Hu, Aiping Deng, Wei Cai
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-07-01
Series:Frontiers in Medicine
Subjects:
whole exome sequencing
Lynch syndrome
mismatch repair gene
genetic counseling
three-dimensional structure
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2025.1635964/full
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