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Gastroenterologists are well aware of the increased risk for cancer, particularly of the colon and endometrium, among gene carriers of Lynch syndrome. Because colonoscopy cannot identify characteristic features of Lynch syndrome, strategies to identify gene carriers have been proposed, including (in order of increasing sensitivity):
Tumor or germline testing of persons who meet the Amsterdam II criteria
Tumor testing of patients who meet the revised Bethesda criteria, followed by germline testing of patients testing positive
Systematic tumor testing for either microsatellite instability (MSI) or immunohistochemical (IHC) testing for mismatch repair gene products for all patients with colorectal cancer (CRC) or a subset of these patients with r…