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rdf:type |
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lifeskim:mentions |
umls-concept:C0026882,
umls-concept:C0033684,
umls-concept:C0043240,
umls-concept:C0221099,
umls-concept:C0332281,
umls-concept:C0374711,
umls-concept:C0599155,
umls-concept:C0879290,
umls-concept:C1136169,
umls-concept:C1705181,
umls-concept:C2698977
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pubmed:issue |
5
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pubmed:dateCreated |
2006-11-14
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pubmed:abstractText |
Inherited deleterious mutations in mismatch repair genes MLH1, MSH2, and MSH6 predispose to hereditary nonpolyposis colorectal cancer. A major diagnostic challenge is the difficulty in evaluating the pathogenicity of missense mutations. Previously we showed that most missense variants in MSH6 do not impair MMR capability and are associated with no or low cancer susceptibility, whereas in MLH1, functional studies distinguished nontruncating mutations with severe defects from those not or slightly impaired in protein expression or function. The present study was undertaken to evaluate the pathogenicity of inherited missense mutations in MSH2.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
0016-5085
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pubmed:author |
pubmed-author:ChanPhilipP,
pubmed-author:GerdesAnne-MarieAM,
pubmed-author:GreenblattMarcM,
pubmed-author:HampelHeatherH,
pubmed-author:Holinski-FederElkeE,
pubmed-author:KariolaReettaR,
pubmed-author:Kohonen-CorishMaijaM,
pubmed-author:MacraeFinlayF,
pubmed-author:MangoldElisabethE,
pubmed-author:NyströmMinnaM,
pubmed-author:OllilaSaaraS,
pubmed-author:PeltomäkiPäiviP,
pubmed-author:SarantausLauraL,
pubmed-author:de la ChapelleAlbertA
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pubmed:issnType |
Print
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pubmed:volume |
131
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1408-17
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:17101317-Adaptor Proteins, Signal Transducing,
pubmed-meshheading:17101317-Animals,
pubmed-meshheading:17101317-Carrier Proteins,
pubmed-meshheading:17101317-Cell Line,
pubmed-meshheading:17101317-Colorectal Neoplasms, Hereditary Nonpolyposis,
pubmed-meshheading:17101317-DNA Mismatch Repair,
pubmed-meshheading:17101317-DNA Repair,
pubmed-meshheading:17101317-Humans,
pubmed-meshheading:17101317-MutS Homolog 2 Protein,
pubmed-meshheading:17101317-Mutation,
pubmed-meshheading:17101317-Mutation, Missense,
pubmed-meshheading:17101317-Nuclear Proteins,
pubmed-meshheading:17101317-Phenotype
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pubmed:year |
2006
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pubmed:articleTitle |
Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.
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pubmed:affiliation |
Department of Biological and Environmental Sciences, Genetics, University of Helsinki, Helsinki, Finland.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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