Figure 1
From: Underutilization of Lynch syndrome screening in a multisite study of patients with colorectal cancer

Flow diagram of Lynch syndrome (LS) screening conducted among patients in the study sample. *LS screening indicates any guideline-recommended combination of genomic MSI and/or protein immunohistochemistry (IHC) tests, germline mutation analysis of MLH1, MLH2, MLH6, and PMS2 genes, and MLH1 hypermethylation studies and BRAF testing to detect sporadic MMR defects (refs. 5,7,11). †Further testing is not indicated when tumors are MSI-L or MSI-S, or when all gene protein products are present on IHC because patients are assumed not to have LS (refs. 4,20,37,38). ‡Further testing is not indicated in the case of MLH1 methylation or BRAF v600E mutation because patients are assumed to not be at risk for LS (refs. 3,5,7). MMR, mismatch repair; MSI-H indicates microsatellite instability high; MSI-L indicates microsatellite instability low; MSI-S indicates microsatellite instability stable.