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Titolo:
MUTATION OF THE RET PROTOONCOGENE IN SPORADIC MEDULLARY-THYROID CARCINOMA
Autore:
ENG C; MULLIGAN LM; SMITH DP; HEALEY CS; FRILLING A; RAUE F; NEUMANN HPH; PFRAGNER R; BEHMEL A; LORENZO MJ; STONEHOUSE TJ; PONDER MA; PONDER BAJ;
Indirizzi:
UNIV CAMBRIDGE,DEPT PATHOL,CRC,HUMAN CANC GENET RES GRP,TENNIS COURT RD CAMBRIDGE CB2 1QP ENGLAND UNIV CAMBRIDGE,DEPT PATHOL,CRC,HUMAN CANC GENET RES GRP CAMBRIDGE CB21QP ENGLAND HARVARD UNIV,SCH MED,DANA FARBER CANC INST,DEPT MED,DIV MED ONCOL BOSTON MA 00000 HARVARD UNIV,SCH MED,DANA FARBER CANC INST,DEPT MED,DIV CANC EPIDEMIOL & CONTROL BOSTON MA 00000 QUEENS UNIV,DEPT PAEDIAT KINGSTON ON CANADA QUEENS UNIV,DEPT PATHOL KINGSTON ON CANADA UNIV HAMBURG,KRANKENHAUS EPPENDORF,CHIRURG KLIN W-2000 HAMBURG GERMANY UNIV HEIDELBERG,MED KLIN & POLIKLIN HEIDELBERG GERMANY UNIV FREIBURG,INNERE MED NEPHROL ABT 6 FREIBURG GERMANY KARL FRANZENS UNIV GRAZ,DEPT GEN & EXPTL PATHOL GRAZ AUSTRIA KARL FRANZENS UNIV GRAZ,DEPT MED BIOL & HUMAN GENET GRAZ AUSTRIA
Titolo Testata:
Genes, chromosomes & cancer
fascicolo: 3, volume: 12, anno: 1995,
pagine: 209 - 212
SICI:
1045-2257(1995)12:3<209:MOTRPI>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Soggetto:
MULTIPLE ENDOCRINE NEOPLASIA; LINE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
16
Recensione:
Indirizzi per estratti:
Citazione:
C. Eng et al., "MUTATION OF THE RET PROTOONCOGENE IN SPORADIC MEDULLARY-THYROID CARCINOMA", Genes, chromosomes & cancer, 12(3), 1995, pp. 209-212

Abstract

Medullary thyroid carcinoma (MTC) occurs sporadically or as part of the inherited cancer syndrome multiple endocrine neoplasia (MEN) type 2. in MEN 2A, germline missense mutations are found in one of five cysteine codons within exons 10 and 11 in the extracellular domain of the RET protooncogene. In MEN 2B, germline mutations occur in codon 918 (exon 16) within the catalytic core of the tyrosine kinase domain. To determine if RET mutations similar to those in MEN 2A and 28 play a rolein the pathogenesis of sporadic MTC, we analysed 71 sporadic tumours comprising 68 primary rumours and three cell lines, for mutations in RET exons 10, 11, and 16. We found that 23% of sporadic MTC had RET codon 918 mutations, while only 3% had exon 10 mutations, and none had mutations in exon 11. We found no exon 16 mutations in MTC from 14 MEN 2A cases. Thus, exon 10 and 11 mutations, commonly found in familial MTC and MEN 2A, rarely occur in sporadic MTC; somatic mutation of RET codon 918 appears to play a role in the tumourigenesis of a significant minority of sporadic MTC but not MEN 2A tumours. In addition to their biological interest, these findings may have some clinical applicationin determining whether a patient presenting with isolated MTC is truly sporadic or is part of an inherited cancer syndrome.

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Documento generato il 26/09/20 alle ore 04:36:20