To NMD and Beyond: Identifying Mutations in the 3’ Terminus of Mismatch Repair Genes.
Clinical evidence and tumor testing data are essential in determining pathogenicity of truncating alterations is the 3’ end of genes.
Identifying the most distal known pathogenic mutation would provide evidence to classify other C-terminal truncating alterations.
As evidence used in classifying these alterations may be dependent on unique data from the laboratory, the need for continued data sharing among commercial laboratories is critical.
Authors: Brandon Smith; Rachid Karam; Kory Jasperson; Tina Pesaran