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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
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pubmed:dateCreated |
1998-3-19
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pubmed:abstractText |
Defects in mismatch repair function can lead to the microsatellite instability (MI+; replication error) phenotype in certain human cancers. We previously reported that MI+ tumor-specific repeat number alteration at 13 consecutive trinucleotide (CAG) repeats within a coding exon of the E2F4 gene is a possible target of the defective repair pathway. Additional investigations revealed that E2F4 mutations are common (11 of 17 cases, 65%, mostly deletions) in a subset of human colorectal cancers with extensive MI+ phenotype, with respect to the proportion of loci affected and that most of these E2F4-mutated tumors (9 of 11, 82%) were accompanied by frameshift mutations in a polyadenine stretch within the seventh exon of the hMSH3 gene, a known mismatch repair gene that is responsible for repair of mismatch loops of two to four nucleotides. However, neither of these mutations was detected in 15 tumors with a lower incidence of MI+ loci. Similar repeat number alterations were less frequent in CAG repeats from other genes in all of the MI+ tumors we examined. These results indicate the presence of a novel cascade of mutational events that may be involved in acquisition of the malignant phenotype of human colorectal cancers with genetic instability.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Feb
|
pubmed:issn |
0008-5472
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pubmed:author | |
pubmed:issnType |
Print
|
pubmed:day |
15
|
pubmed:volume |
58
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pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
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pubmed:pagination |
594-8
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:9485005-Colorectal Neoplasms,
pubmed-meshheading:9485005-DNA Repair,
pubmed-meshheading:9485005-DNA-Binding Proteins,
pubmed-meshheading:9485005-Frameshift Mutation,
pubmed-meshheading:9485005-Humans,
pubmed-meshheading:9485005-Microsatellite Repeats,
pubmed-meshheading:9485005-Mutation,
pubmed-meshheading:9485005-Transcription Factors,
pubmed-meshheading:9485005-Tumor Cells, Cultured
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pubmed:year |
1998
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pubmed:articleTitle |
Close correlation between mutations of E2F4 and hMSH3 genes in colorectal cancers with microsatellite instability.
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pubmed:affiliation |
First Department of Surgery, Okayama University Medical School, Japan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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