Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
HEREDITARY DESMOID DISEASE DUE TO A FRAMESHIFT MUTATION AT CODON-1924OF THE APC GENE
Autore:
ECCLES DM; VANDERLUIJT R; BREUKEL C; BULLMAN H; BUNYAN D; FISHER A; BARBER J; DUBOULAY C; PRIMROSE J; BURN J; FODDE R;
Indirizzi:
LEIDEN UNIV,MGC DEPT HUMAN GENET,WASSENAARSEWEG 72,POB 9503 NL-2300 RA LEIDEN NETHERLANDS LEIDEN UNIV,MGC DEPT HUMAN GENET NL-2300 RA LEIDEN NETHERLANDS UNIV SOUTHAMPTON,WESSEX CLIN GENET SERV SOUTHAMPTON HANTS ENGLAND UNIV SOUTHAMPTON,DEPT SURG SOUTHAMPTON HANTS ENGLAND UNIV SOUTHAMPTON,HOSP TRUST,DEPT PATHOL SOUTHAMPTON HANTS ENGLAND SALISBURY DIST HOSP,WESSEX REG GENET LAB SALISBURY WILTS ENGLAND UNIV NEWCASTLE,DEPT HUMAN GENET NEWCASTLE TYNE TYNE & WEAR ENGLAND
Titolo Testata:
American journal of human genetics
fascicolo: 6, volume: 59, anno: 1996,
pagine: 1193 - 1201
SICI:
0002-9297(1996)59:6<1193:HDDDTA>2.0.ZU;2-G
Fonte:
ISI
Lingua:
ENG
Soggetto:
FAMILIAL ADENOMATOUS POLYPOSIS; CA REPEAT POLYMORPHISM; TRANSLATION-TERMINATING MUTATIONS; PROTEIN TRUNCATION TEST; GERM-LINE MUTATIONS; COLI APC; RAPID DETECTION; TUMOR; PRODUCT; ASSOCIATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
44
Recensione:
Indirizzi per estratti:
Citazione:
D.M. Eccles et al., "HEREDITARY DESMOID DISEASE DUE TO A FRAMESHIFT MUTATION AT CODON-1924OF THE APC GENE", American journal of human genetics, 59(6), 1996, pp. 1193-1201

Abstract

Desmoid tumors are slowly growing fibrous tumors highly resistant to therapy and often fatal. Here, we report hereditary desmoid disease (HDD), a novel autosomal dominant trait with 100% penetrance affecting athree-generation kindred. Desmoid tumors are usually a complication of familial adenomatous polyposis, a predisposition to the early development of premalignant adenomatous polyps in the colorectum due to chain-terminating mutations of the APC gene. In general, one or more members in similar to 10% of the FAP families manifest desmoid tumors. Affected individuals from the HDD kindred are characterized by multifocal fibromatosis of the paraspinal muscles, breast, occiput, arms, lower ribs, abdominal wall, and mesentery. Osteomas, epidermal cysts, and other congenital features were also observed. We show that HDD segregateswith an unusual germline chain-terminating mutation at the 3' end of the APC gene (codon 1924) with somatic loss of the wild-type allele leading to tumor development.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/11/20 alle ore 14:28:58