Fig. 1. Workflow of the constitutional mismatch repair deficiency (CMMRD) screening pipeline and summary of results.

The number of patients and their outcomes are presented in gray boxes, assays used in the screening pipeline are presented in white boxes, criteria by which the assay results were assessed are presented in rhombi, and additional assessments are presented in ovals. gDNA genomic DNA, gMSI germline MSI, MSI microsatellite instability, MUI Medical University of Innsbruck, QC quality control, UAB University of Alabama–Birmingham.