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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
10
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pubmed:dateCreated |
2010-10-22
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pubmed:abstractText |
We previously identified an association between a mismatch repair gene, MLH1, promoter SNP (rs1800734) and microsatellite unstable (MSI-H) colorectal cancers (CRCs) in two samples. The current study expanded on this finding as we explored the genetic basis of DNA methylation in this region of chromosome 3. We hypothesized that specific polymorphisms in the MLH1 gene region predispose it to DNA methylation, resulting in the loss of MLH1 gene expression, mismatch-repair function, and consequently to genome-wide microsatellite instability.
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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 |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1932-6203
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pubmed:author |
pubmed-author:BapatBharatiB,
pubmed-author:ChiangTheodoreT,
pubmed-author:DaftaryDarshanaD,
pubmed-author:DicksElizabethE,
pubmed-author:GallingerStevenS,
pubmed-author:GreenRoger CRC,
pubmed-author:GreenwoodCelia MCM,
pubmed-author:HudsonThomas JTJ,
pubmed-author:LairdPeter WPW,
pubmed-author:McLaughlinJohn RJR,
pubmed-author:MrkonjicMiralemM,
pubmed-author:NewcombPolly APA,
pubmed-author:ParfreyPatrick SPS,
pubmed-author:PatersonAndrew DAD,
pubmed-author:PetheVaijayanti VVV,
pubmed-author:PollettAaronA,
pubmed-author:PotterJohn DJD,
pubmed-author:RaptisStavroulaS,
pubmed-author:RoslinNicole MNM,
pubmed-author:ThibodeauStephen NSN,
pubmed-author:YounghusbandH BanfieldHB,
pubmed-author:ZankeBrent WBW
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pubmed:issnType |
Electronic
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pubmed:volume |
5
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
e13314
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pubmed:meshHeading |
pubmed-meshheading:20967208-Adaptor Proteins, Signal Transducing,
pubmed-meshheading:20967208-Aged,
pubmed-meshheading:20967208-Colorectal Neoplasms,
pubmed-meshheading:20967208-DNA Methylation,
pubmed-meshheading:20967208-Female,
pubmed-meshheading:20967208-Genomic Instability,
pubmed-meshheading:20967208-Humans,
pubmed-meshheading:20967208-Logistic Models,
pubmed-meshheading:20967208-Male,
pubmed-meshheading:20967208-Microsatellite Repeats,
pubmed-meshheading:20967208-Middle Aged,
pubmed-meshheading:20967208-Nuclear Proteins,
pubmed-meshheading:20967208-Polymorphism, Single Nucleotide,
pubmed-meshheading:20967208-Promoter Regions, Genetic
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pubmed:year |
2010
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pubmed:articleTitle |
Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSI-H colorectal cancer.
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pubmed:affiliation |
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
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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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