Prediction of MLH1 and MSH2 Mutations in Lynch Syndrome

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Abstract
Lynch syndrome (also called hereditary nonpolyposis colorectal cancer) is the most common hereditary colorectal cancer syndrome in Western countries, accounting for 2% to 5% of all colorectal cancers (CRCs).1,2 Lynch syndrome is associated with underlying mutations in the mismatch repair system,3,4 most commonly in the MLH1 and MSH2 genes.5 Existing clinical criteria to identify Lynch syndrome families include the Amsterdam Criteria6 and Bethesda Guidelines,7 and these have been updated, modified, and revised by authorities in the field.8,9 However, the Amsterdam Criteria and some components of the Bethesda Guidelines remain complex, and the relative importance of the specific aspects of personal and family history included in these guidelines are unclear. In hereditary breast-ovarian cancer syndrome, multiple models have been developed to predict mutations in the BRCA1 and BRCA2 genes,10,11 and these models are widely implemented by health care professionals as they assess their patients' genetic risk.

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