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

Ciyu Yang,Maksym Misyura,Sarah Kane,Vikas Rai,Alicia Latham,Liying Zhang

Molecular genetics & genomic medicine（2023）

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摘要

Our results indicate that this variant likely contributes to cancer predisposition through disruption of normal splicing, and is classified as likely pathogenic.

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关键词

Lynch syndrome,MSH6,c.4001G > C,germline,splice site variant

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