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rdf:type |
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lifeskim:mentions |
umls-concept:C0030705,
umls-concept:C0205210,
umls-concept:C0205360,
umls-concept:C0231449,
umls-concept:C0314603,
umls-concept:C0879290,
umls-concept:C0879389,
umls-concept:C0936012,
umls-concept:C1333990,
umls-concept:C1519302,
umls-concept:C1707520,
umls-concept:C2348519
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pubmed:issue |
3
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pubmed:dateCreated |
2004-6-22
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pubmed:abstractText |
Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant disorder predisposing to predominantly colorectal cancer (CRC) and endometrial cancer frequently due to germline mutations in DNA mismatch repair (MMR) genes, mainly MLH1, MSH2 and also MSH6 in families seen to demonstrate an excess of endometrial cancer. As a consequence, tumors in HNPCC reveal alterations in the length of simple repetitive genomic sequences like poly-A, poly-T, CA or GT repeats (microsatellites) in at least 90% of the cases.
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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 |
http://linkedlifedata.com/resource/pubmed/chemical/Adaptor Proteins, Signal Transducing,
http://linkedlifedata.com/resource/pubmed/chemical/Carrier Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/DNA Repair Enzymes,
http://linkedlifedata.com/resource/pubmed/chemical/DNA-Binding Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/MLH1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/MSH2 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/MutS Homolog 2 Protein,
http://linkedlifedata.com/resource/pubmed/chemical/Neoplasm Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Nuclear Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Proto-Oncogene Proteins
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pubmed:status |
MEDLINE
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pubmed:issn |
0012-2823
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 2004 S. Karger AG, Basel
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pubmed:issnType |
Print
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pubmed:volume |
69
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
166-76
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:15118395-Adaptor Proteins, Signal Transducing,
pubmed-meshheading:15118395-Adult,
pubmed-meshheading:15118395-Base Pair Mismatch,
pubmed-meshheading:15118395-Carrier Proteins,
pubmed-meshheading:15118395-Colorectal Neoplasms,
pubmed-meshheading:15118395-Colorectal Neoplasms, Hereditary Nonpolyposis,
pubmed-meshheading:15118395-DNA Mutational Analysis,
pubmed-meshheading:15118395-DNA Repair,
pubmed-meshheading:15118395-DNA Repair Enzymes,
pubmed-meshheading:15118395-DNA-Binding Proteins,
pubmed-meshheading:15118395-Female,
pubmed-meshheading:15118395-Humans,
pubmed-meshheading:15118395-Male,
pubmed-meshheading:15118395-Microsatellite Repeats,
pubmed-meshheading:15118395-Middle Aged,
pubmed-meshheading:15118395-MutS Homolog 2 Protein,
pubmed-meshheading:15118395-Neoplasm Proteins,
pubmed-meshheading:15118395-Nuclear Proteins,
pubmed-meshheading:15118395-Pedigree,
pubmed-meshheading:15118395-Phenotype,
pubmed-meshheading:15118395-Proto-Oncogene Proteins,
pubmed-meshheading:15118395-Sensitivity and Specificity
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pubmed:year |
2004
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pubmed:articleTitle |
Extended microsatellite analysis in microsatellite stable, MSH2 and MLH1 mutation-negative HNPCC patients: genetic reclassification and correlation with clinical features.
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pubmed:affiliation |
Medizinische Klinik und Poliklinik, Ludwig-Maximilians-Universität München, Munich, Germany. Uwe.Schiemann@med.uni-muenchen.de
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
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