Lynch syndrome is caused by a germline mutation in a mismatch repair gene, most commonly the MLH1 gene. However, one third of the identified alterations are missense variants with unclear clinical significance. The functionality of these variants can be tested in the laboratory, but the results cannot be used for clinical diagnosis. We therefore aimed to establish a laboratory test that can be applied clinically.
Clinical Cancer Research, 2013, Vol 19, Issue 9, p. 2432-2441
Adaptor Proteins, Signal Transducing; Adult; Aged; Amino Acid Sequence; Colorectal Neoplasms, Hereditary Nonpolyposis; Conserved Sequence; DNA Mismatch Repair; Gene Expression; HEK293 Cells; Humans; Middle Aged; Molecular Diagnostic Techniques; Mutation, Missense; Nuclear Proteins; Protein Stability; Journal Article; Research Support, Non-U.S. Gov't