Germ-line mutations of the p16INK4(MTS1) gene occur in a subset of patients with hepatocellular carcinoma

Détails

ID Serval
serval:BIB_9206F4BE54CB
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Germ-line mutations of the p16INK4(MTS1) gene occur in a subset of patients with hepatocellular carcinoma
Périodique
Hepatology
Auteur(s)
Chaubert  P., Gayer  R., Zimmermann  A., Fontolliet  C., Stamm  B., Bosman  F., Shaw  P.
ISSN
0270-9139 (Print)
Statut éditorial
Publié
Date de publication
1997
Volume
25
Numéro
6
Pages
1376-1381
Résumé
The molecular mechanisms of hepatocarcinogenesis are poorly understood. Only very recently has there been a suggestion of familial hepatocellular carcinoma (HCC). We have analyzed the status of the p16INK4(MTS1) gene, a cyclin-dependent kinase inhibitor, in 26 patients with HCC of different etiologies. Four patients carried hemizygous germ-line point mutations of the p16INK4(MTS1) gene, suggesting the existence of familial HCC involving this gene. The wild-type allele was lost in the tumor in 2 of these 4 patients. Three of the patients carrying a germ-line mutation had non-cirrhosis-associated HCC. No somatic mutations of p16INK4(MTS1) were observed in the 26 cases of HCC. The most common somatic alteration of the p16INK4(MTS1) gene in HCC was de novo methylation, which was detected in 48% of the cases. Low levels (21%) of p16INK4(MTS1) gene allele loss were observed. Altogether, these results indicate that alteration of the p16INK4(MTS1) gene plays an important role in the genesis of HCC
Mots-clé
Adult/Aged/Alleles/Carcinoma/Carcinoma,Hepatocellular/Carrier Proteins/Cyclin-Dependent Kinase Inhibitor p16/DNA Methylation/etiology/Exons/Female/Genes,Tumor Suppressor/genetics/Germ-Line Mutation/Humans/Liver Neoplasms/Male/Middle Aged/Mutation/Pedigree/Point Mutation/Polymorphism,Single-Stranded Conformational/Promoter Regions (Genetics)/Proteins/Switzerland/Tumor Suppressor Protein p14ARF
Pubmed
Web of science
Création de la notice
20/02/2008 10:02
Dernière modification de la notice
03/03/2018 19:30
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