Association of a novel frameshift variant and a known deleterious variant in MMR genes with Lynch syndrome in Chinese families

Association of a novel frameshift variant and a known deleterious variant in MMR genes with Lynch syndrome in Chinese families

Abstract Background Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome. This condition is characterized by germline variants in DNA mismatch repair (MMR) genes, including MLH1, MSH2, MSH6, and PMS2. In this study, we analyzed the molecular defects and clinical manifes...

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Bibliographic Details
Main Authors: Juyi Li, Haichun Ni, Xiufang Wang, Wenzhuo Cheng, Li Li, Yong Cheng, Chao Liu, Yuanyuan Li, Aiping Deng
Format: Article
Language:English
Published: BMC 2024-01-01
Series:World Journal of Surgical Oncology
Online Access:https://doi.org/10.1186/s12957-024-03309-5

Internet

https://doi.org/10.1186/s12957-024-03309-5

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