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Article: Germline hMSH2 and differential somatic mutations in patients with Turcot's syndrome

TitleGermline hMSH2 and differential somatic mutations in patients with Turcot's syndrome
Authors
Issue Date1999
PublisherJohn 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?
AbstractTurcot'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 Identifierhttp://hdl.handle.net/10722/88281
ISSN
2015 Impact Factor: 3.96
2015 SCImago Journal Rankings: 2.210
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorChan, TLen_HK
dc.contributor.authorYuen, STen_HK
dc.contributor.authorChung, LPen_HK
dc.contributor.authorHo, JWCen_HK
dc.contributor.authorKwan, Ken_HK
dc.contributor.authorFan, YWen_HK
dc.contributor.authorChan, ASYen_HK
dc.contributor.authorLeung, SYen_HK
dc.date.accessioned2010-09-06T09:41:18Z-
dc.date.available2010-09-06T09:41:18Z-
dc.date.issued1999en_HK
dc.identifier.citationGenes Chromosomes And Cancer, 1999, v. 25 n. 2, p. 75-81en_HK
dc.identifier.issn1045-2257en_HK
dc.identifier.urihttp://hdl.handle.net/10722/88281-
dc.description.abstractTurcot'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.languageengen_HK
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38250en_HK
dc.relation.ispartofGenes Chromosomes and Canceren_HK
dc.rightsGenes, Chromosomes & Cancer. Copyright © John Wiley & Sons, Inc.en_HK
dc.subject.meshAdenomatous Polyposis Coli - genetics - pathologyen_HK
dc.subject.meshAdulten_HK
dc.subject.meshAmino Acid Sequenceen_HK
dc.subject.meshAnimalsen_HK
dc.subject.meshCentral Nervous System Neoplasms - chemistry - genetics - pathologyen_HK
dc.subject.meshDNA-Binding Proteinsen_HK
dc.subject.meshFemaleen_HK
dc.subject.meshGlioma - chemistry - genetics - pathologyen_HK
dc.subject.meshHumansen_HK
dc.subject.meshMaleen_HK
dc.subject.meshMiceen_HK
dc.subject.meshMolecular Sequence Dataen_HK
dc.subject.meshMutS Homolog 2 Proteinen_HK
dc.subject.meshMutation - geneticsen_HK
dc.subject.meshPedigreeen_HK
dc.subject.meshProtein Biosynthesisen_HK
dc.subject.meshProteins - geneticsen_HK
dc.subject.meshProto-Oncogene Proteins - biosynthesis - geneticsen_HK
dc.subject.meshSyndromeen_HK
dc.titleGermline hMSH2 and differential somatic mutations in patients with Turcot's syndromeen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://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+syndromeen_HK
dc.identifier.emailChan, TL: tlchan@hku.hken_HK
dc.identifier.emailChung, LP: lpchung@hkucc.hku.hken_HK
dc.identifier.emailLeung, SY: suetyi@hku.hken_HK
dc.identifier.authorityChan, TL=rp00418en_HK
dc.identifier.authorityChung, LP=rp00249en_HK
dc.identifier.authorityLeung, SY=rp00359en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1002/(SICI)1098-2264(199906)25:2<75::AID-GCC1>3.0.CO;2-1en_HK
dc.identifier.pmid10337989-
dc.identifier.scopuseid_2-s2.0-0002358598en_HK
dc.identifier.hkuros52575en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0002358598&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume25en_HK
dc.identifier.issue2en_HK
dc.identifier.spage75en_HK
dc.identifier.epage81en_HK
dc.identifier.isiWOS:000080147300001-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridChan, TL=7402687537en_HK
dc.identifier.scopusauthoridYuen, ST=8323342200en_HK
dc.identifier.scopusauthoridChung, LP=24315879100en_HK
dc.identifier.scopusauthoridHo, JWC=25925854200en_HK
dc.identifier.scopusauthoridKwan, K=7006405778en_HK
dc.identifier.scopusauthoridFan, YW=7403492523en_HK
dc.identifier.scopusauthoridChan, ASY=7403168075en_HK
dc.identifier.scopusauthoridLeung, SY=7202044886en_HK

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