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The aim of this study was to evaluate the performance of a newly developed genetic model that incorporates tumor microsatellite instability (MSI) information, called the AIFEG model, and in predicting the presence of mutations in <jats:italic>MSH2<\/jats:italic> and <jats:italic>MLH1<\/jats:italic> in probands with suspected hereditary non\u2010polyposis colorectal cancer. The AIFEG model is based on published estimates of mutation frequencies and cancer penetrances in carriers and non\u2010carriers and employs the program MLINK of the FASTLINK package to calculate the proband's carrier probability. Model performance is evaluated in a series of 219 families screened for mutations in both <jats:italic>MSH2<\/jats:italic> and <jats:italic>MLH1<\/jats:italic>, in which 68 disease\u2010causing mutations were identified. Predictions are first obtained using family history only and then converted into posterior probabilities using information on MSI. This improves predictions substantially. Using a probability threshold of 10% for mutation analysis, the AIFEG model applied to our series has 100% sensitivity and 71% specificity.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2006.00577.x","type":"journal-article","created":{"date-parts":[[2006,2,8]],"date-time":"2006-02-08T17:37:43Z","timestamp":1139420263000},"page":"254-262","source":"Crossref","is-referenced-by-count":15,"title":["A genetic model for determining <i>MSH2<\/i> and <i>MLH1<\/i> carrier probabilities based on family history and tumor microsatellite 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