Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
HIRSCHSPRUNG-DISEASE IN MEN 2A - INCREASED SPECTRUM OF RET EXON-10 GENOTYPES AND STRONG GENOTYPE-PHENOTYPE CORRELATION
Autore:
DECKER RA; PEACOCK ML; WATSON P;
Indirizzi:
DECKER FDN,CHARLIE HAYS DIV CANC RES,7536 FORSYTH BLVD ST LOUIS MO 63105 CREIGHTON UNIV,SCH MED,DEPT PREVENT MED & PUBL HLTH OMAHA NE 68178
Titolo Testata:
Human molecular genetics
fascicolo: 1, volume: 7, anno: 1998,
pagine: 129 - 134
SICI:
0964-6906(1998)7:1<129:HIM2-I>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
MEDULLARY-THYROID CARCINOMA; TYROSINE KINASE DOMAIN; NEOPLASIA TYPE 2A; GRADIENT GEL-ELECTROPHORESIS; SHAH-WAARDENBURG SYNDROME; PROTOONCOGENE MUTATIONS; MISSENSE MUTATION; ENDOTHELIN-3 GENE; POINT MUTATION; ENDOCRINE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
35
Recensione:
Indirizzi per estratti:
Citazione:
R.A. Decker et al., "HIRSCHSPRUNG-DISEASE IN MEN 2A - INCREASED SPECTRUM OF RET EXON-10 GENOTYPES AND STRONG GENOTYPE-PHENOTYPE CORRELATION", Human molecular genetics, 7(1), 1998, pp. 129-134

Abstract

The RET proto-oncogene encodes a transmembrane receptor with tyrosinekinase activity, Germline mutations in RET are responsible for a number of inherited diseases, These include the dominantly inherited cancer syndromes multiple endocrine neoplasia types 2A and 2B (MEN 2A and MEN 2B) and familial medullary thyroid carcinoma (FMTC), as well as some cases of familial Hirschsprung disease (HSCR1), RET mutations in HSCR1 have been shown to cause a loss of RET function,, while the cancer syndromes result in RET oncogenic activation, Occasionally MEN 2A or FMTC occurs in association with HSCR1, albeit with low penetrance, An initial report linked HSCR1 in MEN 2A solely to the C618R and C620R RETmutations. In this study we have analyzed 44 families with MEN 2A, HSCR1 co-segregated with MEN 2A in seven (16%) of the 44 families, The predisposing RET mutation in all seven families had been previously reported in MEN 2A or FMTC and occurred in exon 10 at codons 609, 618 or 620, resulting in C609Y, C618S, C620R or C620W substitution. MEN 2A families with RET exon 10 Cys mutations had a substantially greater riskof developing HSCR1 than those with the more common RET exon 11 Cys634 or exon 14 c804 mutations (P = 0.0005), These findings suggest that expression of HSCR1 in MEN 2A may be peculiar to RET exon 10 Cys mutations, However, HSCR1 in MEN 2A is not exclusive to C618R or C620R RET mutations and can occur with other exon 10 Cys amino acid substitutions, The strong correlation between disease phenotype and position of the MEN 2A RET mutation suggests that oncogenic activation of RET alone is insufficient to account for co-expression of the diseases.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/04/20 alle ore 19:23:00