Characterization of a germline variant MSH6 c.4001G > C in a Lynch syndrome family.
Ciyu YangMaksym MisyuraSarah KaneVikas RaiAlicia LathamZarina YelskayaPublished in: Molecular genetics & genomic medicine (2023)
Our results indicate that this variant likely contributes to cancer predisposition through disruption of normal splicing, and is classified as likely pathogenic.