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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… Click to show full 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 MSH6 pathogenic/likely pathogenic (P/LP) variants compared with that for MLH1 or MSH2 variants.
Keywords:
variant msh6;
germline variant;
germline;
lynch syndrome;
msh6 4001g;
characterization germline
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2023
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2023
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!