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- Publisher Website: 10.1002/(SICI)1098-2264(199906)25:2<75::AID-GCC1>3.0.CO;2-1
- Scopus: eid_2-s2.0-0002358598
- PMID: 10337989
- WOS: WOS:000080147300001
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Article: Germline hMSH2 and differential somatic mutations in patients with Turcot's syndrome
Title | Germline hMSH2 and differential somatic mutations in patients with Turcot's syndrome |
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Authors | |
Issue Date | 1999 |
Publisher | John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38250 |
Citation | Genes Chromosomes And Cancer, 1999, v. 25 n. 2, p. 75-81 How to Cite? |
Abstract | Turcot's syndrome is characterized clinically by the occurrence of primary brain tumor and colorectal tumor and has in previous reports been shown to be associated with germline mutations in the genes APC, hMLH1 and hPMS2. Here we describe three patients with Turcot's syndrome, each having colorectal adenocarcinoma and malignant glioma. All the colorectal and brain tumors from these patients showed replication errors in most of the microsatellite loci investigated. Search for underlying germline mutations in the nucleotide mismatch repair genes revealed three different hMSH2 mutations. All colorectal tumors showed a frameshift in the A(10) tract in the coding sequence of the transforming growth factor β type II receptor (TGFBRII) gene, but no such change was detected in any of the brain tumors. Frameshift mutation in the BAX gene was found in one colon carcinoma and mutations in insulin-like growth factor type II receptor (IGFIIR) gene in one glioma. Our data have broadened the possible mutation spectrum of patients with Turcot's syndrome. The difference in the mutation spectrum of TGFBRII, BAX, and IGFIIR between brain and colorectal tumors in these individuals suggests that the mutator phenotype may target different pathogenic pathways in the oncogenic process of the two organs. |
Persistent Identifier | http://hdl.handle.net/10722/88281 |
ISSN | 2023 Impact Factor: 3.1 2023 SCImago Journal Rankings: 1.110 |
ISI Accession Number ID | |
References |
DC Field | Value | Language |
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dc.contributor.author | Chan, TL | en_HK |
dc.contributor.author | Yuen, ST | en_HK |
dc.contributor.author | Chung, LP | en_HK |
dc.contributor.author | Ho, JWC | en_HK |
dc.contributor.author | Kwan, K | en_HK |
dc.contributor.author | Fan, YW | en_HK |
dc.contributor.author | Chan, ASY | en_HK |
dc.contributor.author | Leung, SY | en_HK |
dc.date.accessioned | 2010-09-06T09:41:18Z | - |
dc.date.available | 2010-09-06T09:41:18Z | - |
dc.date.issued | 1999 | en_HK |
dc.identifier.citation | Genes Chromosomes And Cancer, 1999, v. 25 n. 2, p. 75-81 | en_HK |
dc.identifier.issn | 1045-2257 | en_HK |
dc.identifier.uri | http://hdl.handle.net/10722/88281 | - |
dc.description.abstract | Turcot's syndrome is characterized clinically by the occurrence of primary brain tumor and colorectal tumor and has in previous reports been shown to be associated with germline mutations in the genes APC, hMLH1 and hPMS2. Here we describe three patients with Turcot's syndrome, each having colorectal adenocarcinoma and malignant glioma. All the colorectal and brain tumors from these patients showed replication errors in most of the microsatellite loci investigated. Search for underlying germline mutations in the nucleotide mismatch repair genes revealed three different hMSH2 mutations. All colorectal tumors showed a frameshift in the A(10) tract in the coding sequence of the transforming growth factor β type II receptor (TGFBRII) gene, but no such change was detected in any of the brain tumors. Frameshift mutation in the BAX gene was found in one colon carcinoma and mutations in insulin-like growth factor type II receptor (IGFIIR) gene in one glioma. Our data have broadened the possible mutation spectrum of patients with Turcot's syndrome. The difference in the mutation spectrum of TGFBRII, BAX, and IGFIIR between brain and colorectal tumors in these individuals suggests that the mutator phenotype may target different pathogenic pathways in the oncogenic process of the two organs. | en_HK |
dc.language | eng | en_HK |
dc.publisher | John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38250 | en_HK |
dc.relation.ispartof | Genes Chromosomes and Cancer | en_HK |
dc.rights | Genes, Chromosomes & Cancer. Copyright © John Wiley & Sons, Inc. | en_HK |
dc.subject.mesh | Adenomatous Polyposis Coli - genetics - pathology | en_HK |
dc.subject.mesh | Adult | en_HK |
dc.subject.mesh | Amino Acid Sequence | en_HK |
dc.subject.mesh | Animals | en_HK |
dc.subject.mesh | Central Nervous System Neoplasms - chemistry - genetics - pathology | en_HK |
dc.subject.mesh | DNA-Binding Proteins | en_HK |
dc.subject.mesh | Female | en_HK |
dc.subject.mesh | Glioma - chemistry - genetics - pathology | en_HK |
dc.subject.mesh | Humans | en_HK |
dc.subject.mesh | Male | en_HK |
dc.subject.mesh | Mice | en_HK |
dc.subject.mesh | Molecular Sequence Data | en_HK |
dc.subject.mesh | MutS Homolog 2 Protein | en_HK |
dc.subject.mesh | Mutation - genetics | en_HK |
dc.subject.mesh | Pedigree | en_HK |
dc.subject.mesh | Protein Biosynthesis | en_HK |
dc.subject.mesh | Proteins - genetics | en_HK |
dc.subject.mesh | Proto-Oncogene Proteins - biosynthesis - genetics | en_HK |
dc.subject.mesh | Syndrome | en_HK |
dc.title | Germline hMSH2 and differential somatic mutations in patients with Turcot's syndrome | en_HK |
dc.type | Article | en_HK |
dc.identifier.openurl | http://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1045-2257&volume=25&spage=75&epage=81&date=1999&atitle=Germline+hMSH2+and+differential+somatic+mutations+in+patients+with+Turcot%27s+syndrome | en_HK |
dc.identifier.email | Chan, TL: tlchan@hku.hk | en_HK |
dc.identifier.email | Chung, LP: lpchung@hkucc.hku.hk | en_HK |
dc.identifier.email | Leung, SY: suetyi@hku.hk | en_HK |
dc.identifier.authority | Chan, TL=rp00418 | en_HK |
dc.identifier.authority | Chung, LP=rp00249 | en_HK |
dc.identifier.authority | Leung, SY=rp00359 | en_HK |
dc.description.nature | link_to_subscribed_fulltext | - |
dc.identifier.doi | 10.1002/(SICI)1098-2264(199906)25:2<75::AID-GCC1>3.0.CO;2-1 | en_HK |
dc.identifier.pmid | 10337989 | - |
dc.identifier.scopus | eid_2-s2.0-0002358598 | en_HK |
dc.identifier.hkuros | 52575 | en_HK |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-0002358598&selection=ref&src=s&origin=recordpage | en_HK |
dc.identifier.volume | 25 | en_HK |
dc.identifier.issue | 2 | en_HK |
dc.identifier.spage | 75 | en_HK |
dc.identifier.epage | 81 | en_HK |
dc.identifier.isi | WOS:000080147300001 | - |
dc.publisher.place | United States | en_HK |
dc.identifier.scopusauthorid | Chan, TL=7402687537 | en_HK |
dc.identifier.scopusauthorid | Yuen, ST=8323342200 | en_HK |
dc.identifier.scopusauthorid | Chung, LP=24315879100 | en_HK |
dc.identifier.scopusauthorid | Ho, JWC=25925854200 | en_HK |
dc.identifier.scopusauthorid | Kwan, K=7006405778 | en_HK |
dc.identifier.scopusauthorid | Fan, YW=7403492523 | en_HK |
dc.identifier.scopusauthorid | Chan, ASY=7403168075 | en_HK |
dc.identifier.scopusauthorid | Leung, SY=7202044886 | en_HK |
dc.identifier.issnl | 1045-2257 | - |