Articles with "variant msh6" as a keyword



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

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Published in 2023 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.2104

Abstract: 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… read more here.

Keywords: variant msh6; germline variant; germline; lynch syndrome ... See more keywords