| Genetic characterization of Chinese hereditary non-polyposis colorectal cancer by DHPLC and multiplex PCR. | |
| | |
MedLine Citation:
|
PMID: 15613555 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
BACKGROUND: Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant disease due to germline mutations of human mismatch repair genes, mainly hMLH1 and hMSH2. The aim of the present study was to identify the point mutations and large genomic deletions of hMLH1 and hMSH2 genes in 14 Chinese HNPCC families. METHODS: Fourteen families fulfilling the Chinese HNPCC criteria were involved in this study. Genomic DNA isolated from peripheral blood samples was analyzed. Point mutations were detected by denaturing high performance liquid chromatography (DHPLC) followed by DNA sequencing. Multiplex polymerase chain reaction and GeneScan analysis were employed to detect the large genomic deletions of these two genes. RESULTS: Four of the 14 probands (29%) had sequence abnormalities that probably affect the protein function in the exonic regions of hMLH1 and hMSH2 genes. Included were one complete deletion of exons 1-7 and one missense mutation of the hMSH2 gene, and one nonsense mutation and one missense mutation of the hMLH1 gene. The large genomic deletion accounted for 25% (one out of four) of all mutations. Half (two out of four, 50%) of the mutations were missense mutation. In addition, one silent mutation, four polymorphisms in the exonic regions and four polymorphisms in the intronic regions were also discovered. CONCLUSIONS: Point mutations and large genomic deletions of the hMLH1 and hMSH2 genes were responsible for nearly one-third of Chinese HNPCC families. Detection of large genomic deletions should be involved in the routine screening manual for HNPCC families. |
| | |
Authors:
|
Ying Yuan; Yan-qing Huang; Shan-rong Cai; Yong-mao Song; Shu Zheng; Su-zhan Zhang |
Related Documents
:
|
16461775 - Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary... 7596185 - Genetic instability of microsatellites in hematological neoplasms. 20736745 - Nras mutations are rare in colorectal cancer. 19420965 - Single nucleotide change in the cannabinoid receptor-1 (cnr1) gene in colorectal cancer... 23603345 - Dihydropyrimidine dehydrogenase gene (dpyd) polymorphism among caucasian and non-caucas... 17949795 - The effect of the plasminogen activator inhibitor-1 4g/5g polymorphism on the thromboti... |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: Japanese journal of clinical oncology Volume: 34 ISSN: 0368-2811 ISO Abbreviation: Jpn. J. Clin. Oncol. Publication Date: 2004 Nov |
Date Detail:
|
Created Date: 2004-12-22 Completed Date: 2005-02-11 Revised Date: 2007-11-15 |
Medline Journal Info:
|
Nlm Unique ID: 0313225 Medline TA: Jpn J Clin Oncol Country: Japan |
Other Details:
|
Languages: eng Pagination: 660-6 Citation Subset: IM |
Affiliation:
|
Cancer Research Institute, 2nd Hospital, Zhejiang University School of Medicine, 88 Jie-Fang Road, Hangzhou, 310009 PR China. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adaptor Proteins, Signal Transducing Asian Continental Ancestry Group / genetics Base Pair Mismatch Carrier Proteins Colorectal Neoplasms, Hereditary Nonpolyposis / genetics* DNA-Binding Proteins / genetics* Female Germ-Line Mutation Humans Male MutS Homolog 2 Protein Neoplasm Proteins / genetics* Nuclear Proteins Pedigree Point Mutation* Polymerase Chain Reaction Proto-Oncogene Proteins / genetics* |
| Chemical | |
Reg. No./Substance:
|
0/Adaptor Proteins, Signal Transducing; 0/Carrier Proteins; 0/DNA-Binding Proteins; 0/MLH1 protein, human; 0/Neoplasm Proteins; 0/Nuclear Proteins; 0/Proto-Oncogene Proteins; EC 3.6.1.3/MSH2 protein, human; EC 3.6.1.3/MutS Homolog 2 Protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Long-term survival and prognostic factors in patients with metastatic gastric cancers treated with c...
Next Document: Ewing's sarcoma of the axial system in patients older than 15 years: dismal prognosis despite intens...