A Novel Splice-Site Mutation in MSH2 Is Associated With the Development of Lynch Syndrome

A Novel Splice-Site Mutation in MSH2 Is Associated With the Development of Lynch Syndrome

Lynch syndrome (LS) is an inherited autosomal dominant disorder caused by germline mutations of mismatch repair (MMR) genes, including MSH2, MSH6, PMS2, and MLH1. This study aimed to analyze the molecular defects and clinical manifestations of an affected family and propose appropriate individual pr...

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Bibliographic Details
Main Authors: Juyi Li, Yuanyuan Li, Haichun Ni, Zhibin Yang, Jian Chen, Yarong Li, Sheng Ding, Xiaowan Jiang, Mengjie Wang, Li Li, Xiaoyu Lv, Xiaoyun Ruan, Qian Jiang, Zhang Lei, Yong Cheng, Juan Huang, Aiping Deng
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-06-01
Series:Frontiers in Oncology
Subjects:
Lynch syndrome
hereditary non-polyposis colorectal cancer
MSH2
microsatellite instability
aberrant splicing
genetic counseling
Online Access:https://www.frontiersin.org/article/10.3389/fonc.2020.00983/full

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https://www.frontiersin.org/article/10.3389/fonc.2020.00983/full

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