Characterization of a germline variant MSH6 c.4001G > C in a Lynch syndrome family

Characterization of a germline variant MSH6 c.4001G > C in a Lynch syndrome family

Abstract Background Germline variants in the DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, and PMS2) cause Lynch syndrome, an autosomal dominant hereditary cancer susceptibility syndrome. The risk for endometrial cancer is significantly higher in women with MSH6 pathogenic/likely pathogenic (P/...

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Bibliographic Details
Main Authors: Ciyu Yang, Maksym Misyura, Sarah Kane, Vikas Rai, Alicia Latham, Liying Zhang
Format: Article
Language:English
Published: Wiley 2023-02-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
c.4001G > C
germline
Lynch syndrome
MSH6
splice site variant
Online Access:https://doi.org/10.1002/mgg3.2104

Internet

https://doi.org/10.1002/mgg3.2104

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