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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Bibliografiska uppgifter
Huvudupphovsmän: Juyi Li, Haichun Ni, Xiufang Wang, Wenzhuo Cheng, Li Li, Yong Cheng, Chao Liu, Yuanyuan Li, Aiping Deng
Materialtyp: Artikel
Språk:English
Publicerad: BMC 2024-01-01
Serie:World Journal of Surgical Oncology
Länkar:https://doi.org/10.1186/s12957-024-03309-5