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Titolo:
Analysis of the TSC1 and TSC2 genes in sporadic renal cell carcinomas
Autore:
Parry, L; Maynard, JH; Patel, A; Clifford, SC; Morrissey, C; Maher, ER; Cheadle, JP; Sampson, JR;
Indirizzi:
Univ Wales Coll Med, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales Univ Wales Coll Med Cardiff S Glam Wales CF14 4XN CF14 4XN, S Glam, Wales Univ Birmingham, Dept Paediat & Child Hlth, Sect Med & Mol Genet, Birmingham, W Midlands, England Univ Birmingham Birmingham W Midlands England ngham, W Midlands, England
Titolo Testata:
BRITISH JOURNAL OF CANCER
fascicolo: 8, volume: 85, anno: 2001,
pagine: 1226 - 1230
SICI:
0007-0920(20011019)85:8<1226:AOTTAT>2.0.ZU;2-G
Fonte:
ISI
Lingua:
ENG
Soggetto:
TUMOR-SUPPRESSOR GENE; TUBEROUS SCLEROSIS; SOMATIC MUTATIONS; EKER RAT; IDENTIFICATION; INACTIVATION; ALLELOTYPE; CHILDREN; GERMLINE; MICE;
Keywords:
TSC1; TSC2; sporadic renal cell carcinoma;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
34
Recensione:
Indirizzi per estratti:
Indirizzo: Sampson, JR Univ Wales Coll Med, Inst Med Genet, Cardiff CF14 4XN, S Glam,Wales Univ Wales Coll Med Cardiff S Glam Wales CF14 4XN Glam, Wales
Citazione:
L. Parry et al., "Analysis of the TSC1 and TSC2 genes in sporadic renal cell carcinomas", BR J CANC, 85(8), 2001, pp. 1226-1230

Abstract

The genetic events involved in the aetiology of non-clear-cell renal cell carcinoma (RCC) and a proportion of clear cell RCC remain to be defined. Germline mutations of the TSC1 and TSC2 genes cause tuberous sclerosis (TSC),a multi-system hamartoma syndrome that is also associated with RCC. We assessed 17 sporadic clear cell RCCs with a previously identified VHL mutation, 15 clear-cell RCCs without an identified VHL mutation and 15 non-clear-cell RCCs for loss of heterozygosity (LOH) at chromosomes 9q34 and 16p13.3, the chromosomal locations of TSC1 and TSC2. LOH was detected in 4/9, 1/11 and 3/13 cases informative at both loci. SSCP analysis of the whole coding region of the retained allele did not reveal any cases with a detectable intragenic second somatic mutation. Furthermore, RT-PCR analysis of TSC1 and TSC2 on total RNA from 8 clear-cell RCC cell lines confirmed expression of both TSC genes. These data indicate that biallelic inactivation of TSC1 or TSC2 is not frequent in sporadic RCC and suggests that the molecular mechanisms of renal carcinogenesis in TSC are likely to be distinct. (C) 2001 Cancer Research Campaign.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/01/21 alle ore 15:18:36