Reference Overview - PMID22561517

Overview

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Reference

Integrated analysis of somatic mutations and focal copy-number changes identifies key genes and pathways in hepatocellular carcinoma.

Paper Id
COSP28736
Authors
Guichard C,Amaddeo G,Imbeaud S,Ladeiro Y,Pelletier L,Maad IB,Calderaro J,Bioulac-Sage P,Letexier M,Degos F,Clément B,Balabaud C,Chevet E,Laurent A,Couchy G,Letouzé E,Calvo F and Zucman-Rossi J
Affiliation
1] Institut National de la Santé et de la Recherche Médicale (INSERM), Unité Mixte de Recherche (UMR)-674, Génomique Fonctionnelle des Tumeurs Solides, Institut Universitaire d'Hematologie (IUH), Paris, France. [2] Université Paris Descartes, Labex Immuno-oncology, Sorbonne Paris Cité, Faculté de Médecine, Paris, France. [3].
Journal
Nature genetics 2012;44(6):694-8
ISSN:1546-1718
PUBMED:22561517
Abstract
Hepatocellular carcinoma (HCC) is the most common primary liver malignancy. Here, we performed high-resolution copy-number analysis on 125 HCC tumors and whole-exome sequencing on 24 of these tumors. We identified 135 homozygous deletions and 994 somatic mutations of genes with predicted functional consequences. We found new recurrent alterations in four genes (ARID1A, RPS6KA3, NFE2L2 and IRF2) not previously described in HCC. Functional analyses showed tumor suppressor properties for IRF2, whose inactivation, exclusively found in hepatitis B virus (HBV)-related tumors, led to impaired TP53 function. In contrast, inactivation of chromatin remodelers was frequent and predominant in alcohol-related tumors. Moreover, association of mutations in specific genes (RPS6KA3-AXIN1 and NFE2L2-CTNNB1) suggested that Wnt/β-catenin signaling might cooperate in liver carcinogenesis with both oxidative stress metabolism and Ras/mitogen-activated protein kinase (MAPK) pathways. This study provides insight into the somatic mutational landscape in HCC and identifies interactions between mutations in oncogene and tumor suppressor gene mutations related to specific risk factors.
Paper Status
Curated
Genes Analysed
1028
Mutations
1301

Mutations

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Genes Samples CDS Mutation AA Mutation

Non-Mutant Genes

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Non-Mutant Genes Gene Id (COSG)

Non-Mutant Samples

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Non-Mutant Samples Sample Id (COSS)

Mutated Samples

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Sample Name Mutation Count

Non-Coding mutation

This tab shows non coding variant in the selected study/paper [more details]
Sample ID Sample Name ID NCV Annotation Zygosity Chromosome Genome start Genome stop Genome version Strand WT seq Mut seq