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Titolo:
GERMLINE MUTATIONS OF THE PTEN GENE IN COWDEN-DISEASE, AN INHERITED BREAST AND THYROID-CANCER SYNDROME
Autore:
LIAW D; MARSH DJ; LI J; DAHIA PLM; WANG SI; ZHENG ZM; BOSE S; CALL KM; TSOU HC; PEACOCKE M; ENG C; PARSONS R;
Indirizzi:
HARVARD UNIV,SCH MED,DANA FARBER CANC INST,44 BINNEY ST,D920C BOSTON MA 02115 HARVARD UNIV,SCH MED,DANA FARBER CANC INST BOSTON MA 02115 COLUMBIA UNIV,COLL PHYS & SURG,DEPT PATHOL NEW YORK NY 10032 COLUMBIA UNIV,COLL PHYS & SURG,DEPT MED NEW YORK NY 10032 COLUMBIA UNIV,COLL PHYS & SURG,DEPT DERMATOL NEW YORK NY 10032 CRC,HUMAN CANC GENET RES GRP CAMBRIDGE CB2 2QQ ENGLAND GENOME THERAPEUT CORP WALTHAM MA 00000
Titolo Testata:
Nature genetics
fascicolo: 1, volume: 16, anno: 1997,
pagine: 64 - 67
SICI:
1061-4036(1997)16:1<64:GMOTPG>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
LHERMITTE-DUCLOS DISEASE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
16
Recensione:
Indirizzi per estratti:
Citazione:
D. Liaw et al., "GERMLINE MUTATIONS OF THE PTEN GENE IN COWDEN-DISEASE, AN INHERITED BREAST AND THYROID-CANCER SYNDROME", Nature genetics, 16(1), 1997, pp. 64-67

Abstract

Cowden disease (CD) is an autosomal dominant cancer predisposition syndrome associated with an elevated risk for tumours of the breast, thyroid and skin(1-2). Lhermitte-Duclos disease (LDD) cosegregates with asubset of CD families and is associated with macrocephaly, ataxia anddysplastic cerebellar gangliocytomatosis(3-4). The common feature of these diseases is a predisposition to hamartomas, benign tumours containing differentiated but disorganized cells indigenous to the tissue of origin. Linkage analysis has determined that a single locus within chromosome 10q23 is likely to be responsible for both of these diseases(5). A candidate tumour suppressor gene (PTEN) within this region is mutated in sporadic brain, breast and prostate cancer(6). Another grouphas independently isolated the same gene, termed MMAC1, and also found somatic mutations throughout the gene in advanced sporadic cancers(7). Mutational analysis of PTEN in CD kindreds has identified germline mutations in four of five families, We found nonsense and missense mutations that are predicted to disrupt the protein tyrosine/dual-specificity phosphatase domain of this gene. Thus, PTEN appears to behave as a tumour suppressor gene in the germline. Our data also imply that PTEN may play a role in organizing the relationship of different cell types within an organ during development.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/11/20 alle ore 14:39:12