Document Detail

Mutation analysis of the MYH gene in unrelated Czech APC mutation-negative polyposis patients.
MedLine Citation:
PMID:  17524638     Owner:  NLM     Status:  MEDLINE    
Some of the APC negative FAP and AFAP cases have recently been found to be attributable to MYH associated polyposis (MAP). MAP is an autosomal recessive syndrome associated with 5-100 colorectal adenomas and caused by mutation in the MYH gene. Here, we screened for germline MYH mutations in 82 APC-mutation-negative probands with classical and attenuated familial adenomatous polyposis using the denaturing high performance liquid chromatography (DHPLC) method in combination with sequencing. Altogether 12 previously reported changes and four novel genetic alterations, mostly in intronic sequences, were identified. The results revealed the presence of biallelic germline MYH mutations in two patients. These patients were compound heterozygotes for two of the most common germline mutations c.494 A>G (p.Y165C); c.1,145 G>A (p.G382D). These variants are established to be associated with adenomatous polyposis and colorectal cancer. No novel pathogenic mutation has been identified in our study.
M Sulová; K Zídková; Z Kleibl; J Stekrová; V Kebrdlová; M Bortlík; M Lukás; M Kohoutová
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Publication Detail:
Type:  Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't     Date:  2007-05-23
Journal Detail:
Title:  European journal of cancer (Oxford, England : 1990)     Volume:  43     ISSN:  0959-8049     ISO Abbreviation:  Eur. J. Cancer     Publication Date:  2007 Jul 
Date Detail:
Created Date:  2007-06-18     Completed Date:  2007-11-20     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9005373     Medline TA:  Eur J Cancer     Country:  England    
Other Details:
Languages:  eng     Pagination:  1617-21     Citation Subset:  IM    
Institute of Biology and Medical Genetics of the First Faculty of Medicine and General Teaching Hospital, Charles University, Prague 2, Albertov 4, 128 00, Czech Republic.
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MeSH Terms
Adenomatous Polyposis Coli / genetics*
Czech Republic
DNA Mutational Analysis
DNA, Neoplasm / genetics
Exons / genetics
Genes, APC*
Germ-Line Mutation / genetics*
Myosin Heavy Chains / genetics*
Reg. No./Substance:
0/DNA, Neoplasm; 0/Myosin Heavy Chains

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