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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
7
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pubmed:dateCreated |
2011-4-5
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pubmed:abstractText |
Bi-allelic germline mutations of one of the DNA mismatch repair genes, so far predominantly found in PMS2, cause constitutional MMR-deficiency syndrome. This rare disorder is characterised by paediatric intestinal cancer and other malignancies. We report the clinical, immunohistochemical and genetic characterisation of four families with bi-allelic germline PMS2 mutations. We present an overview of the published gastrointestinal manifestations of CMMR-D syndrome and propose recommendations for gastro-intestinal screening.
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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:month |
May
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pubmed:issn |
1879-0852
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pubmed:author |
pubmed-author:HerkertJohanna CJC,
pubmed-author:HofstraRobert M WRM,
pubmed-author:KarrenbeldArendA,
pubmed-author:KleibeukerJan HJH,
pubmed-author:NiessenRenée CRC,
pubmed-author:Olderode-BerendsMaria J WMJ,
pubmed-author:PetersFrans T MFT,
pubmed-author:ScheenstraReneR,
pubmed-author:SijmonsRolf HRH,
pubmed-author:TopsCarli M JCM,
pubmed-author:Veenstra-KnolHermine EHE,
pubmed-author:VosYvonne JYJ,
pubmed-author:van der KliftHeleen MHM
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pubmed:copyrightInfo |
Copyright © 2011 Elsevier Ltd. All rights reserved.
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pubmed:issnType |
Electronic
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pubmed:volume |
47
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
965-82
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pubmed:meshHeading |
pubmed-meshheading:21376568-Adenosine Triphosphatases,
pubmed-meshheading:21376568-Adult,
pubmed-meshheading:21376568-Base Pair Mismatch,
pubmed-meshheading:21376568-Child,
pubmed-meshheading:21376568-Child, Preschool,
pubmed-meshheading:21376568-DNA Repair,
pubmed-meshheading:21376568-DNA Repair Enzymes,
pubmed-meshheading:21376568-DNA-Binding Proteins,
pubmed-meshheading:21376568-Family Health,
pubmed-meshheading:21376568-Female,
pubmed-meshheading:21376568-Follow-Up Studies,
pubmed-meshheading:21376568-Gene Deletion,
pubmed-meshheading:21376568-Germ-Line Mutation,
pubmed-meshheading:21376568-Humans,
pubmed-meshheading:21376568-Immunohistochemistry,
pubmed-meshheading:21376568-Intestinal Neoplasms,
pubmed-meshheading:21376568-Intestinal Polyposis,
pubmed-meshheading:21376568-Male,
pubmed-meshheading:21376568-Microsatellite Instability,
pubmed-meshheading:21376568-Microsatellite Repeats,
pubmed-meshheading:21376568-Mutation,
pubmed-meshheading:21376568-Syndrome
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pubmed:year |
2011
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pubmed:articleTitle |
Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.
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pubmed:affiliation |
Department of Genetics, University Medical Center Groningen, University of Groningen, P.O. Box 30.001, 9700 RB Groningen, The Netherlands. j.c.herkert@medgen.umcg.nl
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pubmed:publicationType |
Journal Article,
Review,
Case Reports
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