A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants

Abstract excerpt

Lynch syndrome (LS) is an autosomal dominant disorder that predisposes to colon, endometrial, and other cancers. LS is caused by a heterozygous germline mutation in one of the DNA mismatch repair (MMR) genes. A significant proportion of all mutations found in suspected LS patients comprises single amino acid alterations. The pathogenicity of these variants of uncertain significance (VUS) is difficult to assess,...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cancer Genomics and Diagnostics
• Share to Genetic factors in colorectal cancer
• Share to RNA Research and Splicing