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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
11
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pubmed:dateCreated |
2006-10-30
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pubmed:abstractText |
Bi-allelic germline mutations in the MUTYH gene give rise to multiple adenomas and an increased incidence of colorectal cancer. In addition, duodenal adenomas and other extra-colonic manifestations have been described in MUTYH-associated polyposis (MAP) patients. We describe two patients with bi-allelic MUTYH gene mutations with duodenal carcinoma. The tumour in Patient A was detected during evaluation of non-specific abdominal complaints. Patient B was already diagnosed with tens of adenomas and a colon carcinoma, when a duodenal neoplasm was detected. The identification of somatic G>T mutations in codon 12 of the K-RAS2 gene provides evidence that the duodenal lesions were induced by MUTYH deficiency. Studies in larger series of MAP patients are needed to investigate the risk of upper-gastro-intestinal malignancies and to determine further guidelines for endoscopical surveillance.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/16943222-10594865,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16943222-11788563,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16943222-11818965,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16943222-12606733,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16943222-12727799,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16943222-12740351,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16943222-12853198,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16943222-14633673,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16943222-14871975,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16943222-14960520,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16943222-14976131,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16943222-14999774,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16943222-15236166,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16943222-15366000,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16943222-3738698,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16943222-9585611
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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 |
0021-9746
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pubmed:author |
pubmed-author:BurgerG TGT,
pubmed-author:DommeringC JCJ,
pubmed-author:KuipersE JEJ,
pubmed-author:MorreauHH,
pubmed-author:NielsenMM,
pubmed-author:PoleyJ WJW,
pubmed-author:VasenH F AHF,
pubmed-author:VerhoefSS,
pubmed-author:WagnerAA,
pubmed-author:WeissM MMM,
pubmed-author:YeeW HWH,
pubmed-author:van PuijenbroekMM
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pubmed:issnType |
Print
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pubmed:volume |
59
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1212-5
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pubmed:dateRevised |
2010-9-15
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pubmed:meshHeading |
pubmed-meshheading:16943222-Adenomatous Polyposis Coli,
pubmed-meshheading:16943222-Aged,
pubmed-meshheading:16943222-DNA, Neoplasm,
pubmed-meshheading:16943222-DNA Glycosylases,
pubmed-meshheading:16943222-DNA Mutational Analysis,
pubmed-meshheading:16943222-Duodenal Neoplasms,
pubmed-meshheading:16943222-Germ-Line Mutation,
pubmed-meshheading:16943222-Humans,
pubmed-meshheading:16943222-Male,
pubmed-meshheading:16943222-Middle Aged
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pubmed:year |
2006
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pubmed:articleTitle |
Duodenal carcinoma in MUTYH-associated polyposis.
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pubmed:affiliation |
Centre for Human and Clinical Genetics, LUMC, Leiden, the Netherlands.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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