1998
DOI: 10.1086/301926
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Muir-Torre Phenotype Has a Frequency of DNA Mismatch-Repair-Gene Mutations Similar to That in Hereditary Nonpolyposis Colorectal Cancer Families Defined by the Amsterdam Criteria

Abstract: Muir-Torre syndrome (MTS) is an autosomal dominant disease defined by the coincidence of at least one sebaceous skin tumor and one internal malignancy. About half of MTS patients are affected by colorectal cancer. In a subgroup of MTS patients the disease has an underlying DNA mismatch-repair (MMR) defect and thus is allelic to hereditary nonpolyposis colorectal cancer (HNPCC). The purpose of this study was to examine to what extent germ-line mutations in DNA MMR genes are the underlying cause of the MTS pheno… Show more

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Cited by 204 publications
(129 citation statements)
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“…25,26 MSH-2 and MLH-1 are human homologs of the eukaryotic MutS and MutL components of the Escherichia coli MutHLS mismatch repair system. 12,27 The eukaryotic MutS-related protein involves hetereodimeric complexes of which one is a complex of MSH-2 and MSH-6.…”
Section: Discussionmentioning
confidence: 99%
“…25,26 MSH-2 and MLH-1 are human homologs of the eukaryotic MutS and MutL components of the Escherichia coli MutHLS mismatch repair system. 12,27 The eukaryotic MutS-related protein involves hetereodimeric complexes of which one is a complex of MSH-2 and MSH-6.…”
Section: Discussionmentioning
confidence: 99%
“…Das mediane Erkrankungsalter wird mit 40 -54 Jahren angegeben [244 -246]. Beim Muir-Torre-Syndrom handelt es sich um eine seltene phänotypische Variante des HNPCC, bei der neben den bereits genannten HNPCC-Tumoren vor allem Talgdrüsenadenome oder -karzinome auftreten [247]. Hintergrund Die durch biallele Keimbahnmutationen im MUTYH-Gen verursachte, autosomal-rezessiv erbliche MAP ist die wichtigste Differenzialdiagnose der APC-assoziierten FAP [264]; sie wird bei 15 -20 % der APC-mutationsnegativen kolorektalen Adenomatosen diagnostiziert [265,266].…”
Section: Level Of Evidence 2bunclassified
“…Recently, it has been reported that by NMBA (N-nitrosomethylbenzylamine) exposure, Fhit-deficient mice developed a spectrum of visceral and skin tumours similar to Muir-Torre syndrome, caused by a deficiency in a MMR gene (Fong et al, 2000). A large subgroup of MTS cases exhibits MSI and germline mutations in the MLH1 or MSH2 gene (Kruse et al, 1998). In addition, it was previously observed that human pancreatic cancers and cell lines with high MSI frequently had homozygous deletions within FHIT (Hilgers and Kern, 1999;Hilgers et al, 2000).…”
Section: Genetics and Genomicsmentioning
confidence: 99%