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Titolo:
2 LI-FRAUMENI-SYNDROME FAMILIES WITH NOVEL GERMLINE P53 MUTATIONS - LOSS OF THE WILD-TYPE P53 ALLELE IN ONLY 50-PERCENT OF TUMORS
Autore:
SEDLACEK Z; KODET R; KRIZ V; SEEMANOVA E; VODVARKA P; WILGENBUS P; MARES J; POUSTKA A; GOETZ P;
Indirizzi:
CHARLES UNIV,SCH MED 2,INST BIOL & MED GENET,V UVALU 84 PRAGUE 15006 5 CZECH REPUBLIC DEUTSCH KREBSFORSCHUNGSZENTRUM,DIV MOL GENOME ANAL D-69120 HEIDELBERGGERMANY CHARLES UNIV,SCH MED 2,INST PATHOL ANAT PRAGUE 15006 CZECH REPUBLIC UNIV HOSP,RADIOTHERAPEUT CLIN 2 PASKOV 73921 CZECH REPUBLIC
Titolo Testata:
British Journal of Cancer
fascicolo: 7, volume: 77, anno: 1998,
pagine: 1034 - 1039
SICI:
0007-0920(1998)77:7<1034:2LFWNG>2.0.ZU;2-1
Fonte:
ISI
Lingua:
ENG
Soggetto:
PCR AMPLIFICATION; GENE; CANCER; PREVALENCE; EXPRESSION; LINKAGE; PROTEIN; TUMORS; 2ND;
Keywords:
LI-FRAUMENI SYNDROME; GERMLINE P53 MUTATION; LOSS OF HETEROZYGOSITY; P53 IMMUNOHISTOCHEMISTRY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
30
Recensione:
Indirizzi per estratti:
Citazione:
Z. Sedlacek et al., "2 LI-FRAUMENI-SYNDROME FAMILIES WITH NOVEL GERMLINE P53 MUTATIONS - LOSS OF THE WILD-TYPE P53 ALLELE IN ONLY 50-PERCENT OF TUMORS", British Journal of Cancer, 77(7), 1998, pp. 1034-1039

Abstract

We describe two Li-Fraumeni syndrome families. Family A was remarkable for two early childhood cases of adrenocortical tumours, family B for a high incidence of many characteristic cancers, including a childhood case of choroid plexus tumour. Using direct sequencing, we analysedexons 5-9 of the p53 gene in constitutional DNA of individuals from both families and found two novel germline mutations in exon 5. In family A, we detected a point substitution in codon 138 (GCC to CCC), which resulted in the replacement of the alanine by a proline residue. Family B harboured a single-base pair deletion in codon 178 (CAC to -AC),resulting in a frameshift and premature chain termination. Three out of six tumours examined from both families, a renal cell carcinoma, a rhabdomyosarcoma and a breast cancer, showed loss of heterozygosity and contained only the mutant p53 allele. The remaining three neoplasms,both adrenocortical tumours and the choroid plexus tumour retained heterozygosity. Immunohistochemistry with anti-p53 antibody confirmed accumulation of p53 protein in tumours with loss of heterozygosity, while the remaining tumours were p53 negative. These results support the view that complete loss of activity of the wild-type p53 need not be the initial event in the formation of all tumours in Li-Fraumeni individuals.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/12/20 alle ore 14:33:31