Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions
نویسندگان
چکیده
منابع مشابه
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
Classification of rare missense substitutions observed during genetic testing for patient management is a considerable problem in clinical genetics. The Bayesian integrated evaluation of unclassified variants is a solution originally developed for BRCA1/2. Here, we take a step toward an analogous system for the mismatch repair (MMR) genes (MLH1, MSH2, MSH6, and PMS2) that confer colon cancer su...
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A considerable proportion of Lynch syndrome families present with mismatch repair (MMR) gene sequence variants of uncertain clinical significance, which constitute a challenge in both the research and clinical settings. Such unclassified variants (UVs) include rare nucleotide changes predicted to cause missense substitutions, small in-frame deletions, or possible alterations in splicing. We are...
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Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing.
BACKGROUND In hereditary non-polyposis colorectal cancer, over 90% of the identified mutations are in two genes, hMSH2 and hMLH1. A large proportion of the mutations detected in these genes are of the missense type which may be either deleterious mutations or harmless polymorphisms. AIM To investigate whether nine missense and one splice site mutation of hMLH1 and hMSH2, in 10 kindreds with a...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2012
ISSN: 1059-7794
DOI: 10.1002/humu.22214