Source:http://linkedlifedata.com/resource/pubmed/id/16287072
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
8
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| pubmed:dateCreated |
2006-2-21
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| pubmed:abstractText |
In 10-30% of patients with classical familial adenomatous polyposis (FAP) and up to 90% of those with attenuated (<100 colorectal adenomas; AFAP) polyposis, no pathogenic germline mutation in the adenomatous polyposis coli (APC) gene can be identified (APC mutation-negative). Recently, biallelic mutations in the base excision repair gene MYH have been shown to predispose to a multiple adenoma and carcinoma phenotype. This study aimed to (i) assess the MYH mutation carrier frequency among Swiss APC mutation-negative patients and (ii) identify phenotypic differences between MYH mutation carriers and APC/MYH mutation-negative polyposis patients. Seventy-nine unrelated APC mutation-negative Swiss patients with either classical (n=18) or attenuated (n=61) polyposis were screened for germline mutations in MYH by dHPLC and direct genomic DNA sequencing. Overall, 7 (8.9%) biallelic and 9 (11.4%) monoallelic MYH germline mutation carriers were identified. Among patients with a family history compatible with autosomal recessive inheritance (n=45), 1 (10.0%) out of 10 classical polyposis and 6 (17.1%) out of 35 attenuated polyposis patients carried biallelic MYH alterations, 2 of which represent novel gene variants (p.R171Q and p.R231H). Colorectal cancer was significantly (p<0.007) more frequent in biallelic mutation carriers (71.4%) compared with that of monoallelic and MYH mutation-negative polyposis patients (0 and 13.8%, respectively). On the basis of our findings and earlier reports, MYH mutation screening should be considered if all of the following criteria are fulfilled: (i) presence of classical or attenuated polyposis coli, (ii) absence of a pathogenic APC mutation, and (iii) a family history compatible with an autosomal recessive mode of inheritance.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:month |
Apr
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| pubmed:issn |
0020-7136
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| pubmed:author | |
| pubmed:copyrightInfo |
Copyright (c) 2005 Wiley-Liss, Inc.
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| pubmed:issnType |
Print
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| pubmed:day |
15
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| pubmed:volume |
118
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| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
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| pubmed:pagination |
1937-40
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| pubmed:dateRevised |
2007-7-24
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| pubmed:meshHeading |
pubmed-meshheading:16287072-Adenomatous Polyposis Coli,
pubmed-meshheading:16287072-Adult,
pubmed-meshheading:16287072-Aged,
pubmed-meshheading:16287072-Case-Control Studies,
pubmed-meshheading:16287072-Colorectal Neoplasms,
pubmed-meshheading:16287072-DNA Glycosylases,
pubmed-meshheading:16287072-DNA Mutational Analysis,
pubmed-meshheading:16287072-DNA Repair,
pubmed-meshheading:16287072-Female,
pubmed-meshheading:16287072-Genes, APC,
pubmed-meshheading:16287072-Genetic Predisposition to Disease,
pubmed-meshheading:16287072-Germ-Line Mutation,
pubmed-meshheading:16287072-Humans,
pubmed-meshheading:16287072-Inheritance Patterns,
pubmed-meshheading:16287072-Male,
pubmed-meshheading:16287072-Middle Aged,
pubmed-meshheading:16287072-Pedigree,
pubmed-meshheading:16287072-Phenotype,
pubmed-meshheading:16287072-Switzerland
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| pubmed:year |
2006
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| pubmed:articleTitle |
Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients.
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| pubmed:affiliation |
Research Group Human Genetics, Division of Medical Genetics, Center for Biomedicine, University of Basel, Basel, Switzerland.
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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