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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2009-5-14
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pubmed:abstractText |
Gastrointestinal malignancies are extremely rare in the pediatric population, and duodenal cancers represent an even more unusual entity. Intestinal cancers in young adults and children have been observed to be associated with functional deficiencies of the mismatch repair (MMR) system causing a cancer-predisposition syndrome. We report the case of a 16-year-old female with duodenal adenocarcinoma and past history of medulloblastoma found to have a novel germline bialleleic truncating mutation (c.[949C>T]+[949C>T]) of the PMS2 gene.
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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 |
http://linkedlifedata.com/resource/pubmed/chemical/Adaptor Proteins, Signal Transducing,
http://linkedlifedata.com/resource/pubmed/chemical/Adenosine Triphosphatases,
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/Nuclear Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/PMS2 protein, human
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
1545-5017
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 2009 Wiley-Liss, Inc.
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pubmed:issnType |
Electronic
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pubmed:volume |
53
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
116-20
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pubmed:meshHeading |
pubmed-meshheading:19283792-Adaptor Proteins, Signal Transducing,
pubmed-meshheading:19283792-Adenocarcinoma,
pubmed-meshheading:19283792-Adenosine Triphosphatases,
pubmed-meshheading:19283792-Adolescent,
pubmed-meshheading:19283792-Antineoplastic Combined Chemotherapy Protocols,
pubmed-meshheading:19283792-Chemotherapy, Adjuvant,
pubmed-meshheading:19283792-Consanguinity,
pubmed-meshheading:19283792-DNA Mismatch Repair,
pubmed-meshheading:19283792-DNA Repair Enzymes,
pubmed-meshheading:19283792-DNA-Binding Proteins,
pubmed-meshheading:19283792-Duodenal Neoplasms,
pubmed-meshheading:19283792-Female,
pubmed-meshheading:19283792-Germ-Line Mutation,
pubmed-meshheading:19283792-Humans,
pubmed-meshheading:19283792-Lymphatic Metastasis,
pubmed-meshheading:19283792-Male,
pubmed-meshheading:19283792-MutS Homolog 2 Protein,
pubmed-meshheading:19283792-Nuclear Proteins,
pubmed-meshheading:19283792-Pancreatic Neoplasms,
pubmed-meshheading:19283792-Pedigree,
pubmed-meshheading:19283792-Radiotherapy, Adjuvant
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pubmed:year |
2009
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pubmed:articleTitle |
Pediatric duodenal cancer and biallelic mismatch repair gene mutations.
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pubmed:affiliation |
Division of Pediatric Hematology-Oncology, Dept. of Pediatrics, University of Michigan Health System, Ann Arbor, Michigan 48109-0238, USA. sumitar@med.umich.edu
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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