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Article: Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas

TitleGermline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas
Authors
Issue Date1997
PublisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
Citation
Nature genetics, 1997, v. 16 n. 1, p. 68-73 How to Cite?
AbstractHereditary papillary renal carcinoma (HPRC) is a recently recognized form of inherited kidney cancer characterized by a predisposition to develop multiple, bilateral papillary renal tumours. The pattern of inheritance of HPRC is consistent with autosomal dominant transmission with reduced penetrance. HPRC is histologically and genetically distinct from two other causes of inherited renal carcinoma, von Hippel-Lindau disease (VHL) and the chromosome translocation (3;8). Malignant papillary renal carcinomas are characterized by trisomy of chromosomes 7, 16 and 17, and in men, by loss of the Y chromosome. Inherited and sporadic clear cell renal carcinomas are characterized by inactivation of both copies of the VHL gene by mutation, and/or by hypermethylation. We found that the HPRC gene was located at chromosome 7q31.1-34 in a 27-centimorgan (cM) interval between D7S496 and D7S1837. We identified missense mutations located in the tyrosine kinase domain of the MET gene in the germline of affected members of HPRC families and in a subset of sporadic papillary renal carcinomas. Three mutations in the MET gene are located in codons that are homologous to those in c-kit and RET, proto-oncogenes that are targets of naturally-occurring mutations. The results suggest that missense mutations located in the MET proto-oncogene lead to constitutive activation of the MET protein and papillary renal carcinomas.
Persistent Identifierhttp://hdl.handle.net/10722/44315
ISSN
2015 Impact Factor: 31.616
2015 SCImago Journal Rankings: 23.762
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorSchmidt, Len_HK
dc.contributor.authorDuh, FMen_HK
dc.contributor.authorChen, Fen_HK
dc.contributor.authorKishida, Ten_HK
dc.contributor.authorGlenn, Gen_HK
dc.contributor.authorChoyke, Pen_HK
dc.contributor.authorScherer, SWen_HK
dc.contributor.authorZhuang, Zen_HK
dc.contributor.authorLubensky, Ien_HK
dc.contributor.authorDean, Men_HK
dc.contributor.authorAllkimets, Ren_HK
dc.contributor.authorChidambaram, Aen_HK
dc.contributor.authorBergerheim, URen_HK
dc.contributor.authorFeltis, JTen_HK
dc.contributor.authorCasadevall, Cen_HK
dc.contributor.authorZamarron, Aen_HK
dc.contributor.authorBernues, Men_HK
dc.contributor.authorRichard, Sen_HK
dc.contributor.authorLips, CJMen_HK
dc.contributor.authorWalther, MMen_HK
dc.contributor.authorTsui, L-Cen_HK
dc.contributor.authorGeil, Len_HK
dc.contributor.authorOrcutt, MLen_HK
dc.contributor.authorStackhouse, Ten_HK
dc.contributor.authorLipan, Jen_HK
dc.contributor.authorSlife, Len_HK
dc.contributor.authorBrauch, Hen_HK
dc.contributor.authorDecker, Jen_HK
dc.contributor.authorNiehans, Gen_HK
dc.contributor.authorHughson, MDen_HK
dc.contributor.authorMoch, Hen_HK
dc.contributor.authorStorkel, Sen_HK
dc.contributor.authorLerman, MIen_HK
dc.contributor.authorLinehan, WMen_HK
dc.contributor.authorZbar, B-
dc.date.accessioned2007-09-12T03:51:15Z-
dc.date.available2007-09-12T03:51:15Z-
dc.date.issued1997en_HK
dc.identifier.citationNature genetics, 1997, v. 16 n. 1, p. 68-73en_HK
dc.identifier.issn1061-4036en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44315-
dc.description.abstractHereditary papillary renal carcinoma (HPRC) is a recently recognized form of inherited kidney cancer characterized by a predisposition to develop multiple, bilateral papillary renal tumours. The pattern of inheritance of HPRC is consistent with autosomal dominant transmission with reduced penetrance. HPRC is histologically and genetically distinct from two other causes of inherited renal carcinoma, von Hippel-Lindau disease (VHL) and the chromosome translocation (3;8). Malignant papillary renal carcinomas are characterized by trisomy of chromosomes 7, 16 and 17, and in men, by loss of the Y chromosome. Inherited and sporadic clear cell renal carcinomas are characterized by inactivation of both copies of the VHL gene by mutation, and/or by hypermethylation. We found that the HPRC gene was located at chromosome 7q31.1-34 in a 27-centimorgan (cM) interval between D7S496 and D7S1837. We identified missense mutations located in the tyrosine kinase domain of the MET gene in the germline of affected members of HPRC families and in a subset of sporadic papillary renal carcinomas. Three mutations in the MET gene are located in codons that are homologous to those in c-kit and RET, proto-oncogenes that are targets of naturally-occurring mutations. The results suggest that missense mutations located in the MET proto-oncogene lead to constitutive activation of the MET protein and papillary renal carcinomas.-
dc.languageengen_HK
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.comen_HK
dc.relation.ispartofNature genetics-
dc.subject.meshCarcinoma, Papillary - epidemiology - geneticsen_HK
dc.subject.meshKidney Neoplasms - epidemiology - geneticsen_HK
dc.subject.meshMutationen_HK
dc.subject.meshProtein-Tyrosine Kinases - metabolismen_HK
dc.subject.meshReceptor Protein-Tyrosine Kinases - genetics - metabolismen_HK
dc.titleGermline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomasen_HK
dc.typeArticle-
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1061-4036&volume=16&issue=1&spage=68&epage=73&date=1997&atitle=Germline+and+somatic+mutations+in+the+tyrosine+kinase+domain+of+the+MET+proto-oncogene+in+papillary+renal+carcinomas-
dc.identifier.emailTsui, L-C: tsuilc@hkucc.hku.hk-
dc.description.naturelink_to_subscribed_fulltexten_HK
dc.identifier.doi10.1038/ng0597-68en_HK
dc.identifier.pmid9140397-
dc.identifier.hkuros121051-
dc.identifier.volume16-
dc.identifier.issue1-
dc.identifier.spage68-
dc.identifier.epage73-
dc.identifier.isiWOS:A1997WX02400024-

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