Many patients who have genetic testing for Lynch syndrome receive the inconclusive result "variants of uncertain clinical significance." This can be a problem, as people with Lynch syndrome have a much higher probability to develop colon cancer, and often develop colon cancer at an earlier age than is common among the general population; consequently, they need to begin screening at a much younger age. Now, between two-thirds and three-fourths of these genetic variants can be classified into categories that indicate the most appropriate screening and treatment guidelines, according to two complementary papers published in Human Mutation. Read more here.
Study mentioned: Thompson BA, et al. Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions. Hum Mutat. 2012 Sep 4. [Epub ahead of print] PMID: 22949387
Study mentioned: Thompson BA, et al. A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry. Hum Mutat. 2012 Sep 4. [Epub ahead of print] PMID: 22949379
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