Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome

Variants in the DNA mismatch repair (MMR) gene MSH6, identified in individuals suspected of Lynch syndrome, are difficult to classify owing to the low cancer penetrance of defects in that gene. This not only obfuscates personalized health care but also the development of a rapid and reliable classification procedure that does not require clinical data.The complete in vitro MMR activity (CIMRA) assay was calibrated against clinically classified...