Reference Overview - PMID22561520

Overview

This tab shows an overview of the selected study/paper [more details]
Reference

Exome sequencing of liver fluke-associated cholangiocarcinoma.

Paper Id
COSP28751
Authors
Ong CK,Subimerb C,Pairojkul C,Wongkham S,Cutcutache I,Yu W,McPherson JR,Allen GE,Ng CC,Wong BH,Myint SS,Rajasegaran V,Heng HL,Gan A,Zang ZJ,Wu Y,Wu J,Lee MH,Huang D,Ong P,Chan-On W,Cao Y,Qian CN,Lim KH,Ooi A,Dykema K,Furge K,Kukongviriyapan V,Sripa B,Wongkham C,Yongvanit P,Futreal PA,Bhudhisawasdi V,Rozen S,Tan P and Teh BT
Affiliation
1] National Cancer Centre Singapore-Van Andel Research Institute Translational Research Laboratory, Division of Medical Sciences, National Cancer Centre, Singapore. [2] Division of Cancer and Stem Cell Biology, Duke-National University of Singapore (NUS) Graduate Medical School, Singapore. [3].
Journal
Nature genetics 2012;44(6):690-3
ISSN:1546-1718
PUBMED:22561520
Abstract
Opisthorchis viverrini-related cholangiocarcinoma (CCA), a fatal bile duct cancer, is a major public health concern in areas endemic for this parasite. We report here whole-exome sequencing of eight O. viverrini-related tumors and matched normal tissue. We identified and validated 206 somatic mutations in 187 genes using Sanger sequencing and selected 15 genes for mutation prevalence screening in an additional 46 individuals with CCA (cases). In addition to the known cancer-related genes TP53 (mutated in 44.4% of cases), KRAS (16.7%) and SMAD4 (16.7%), we identified somatic mutations in 10 newly implicated genes in 14.8-3.7% of cases. These included inactivating mutations in MLL3 (in 14.8% of cases), ROBO2 (9.3%), RNF43 (9.3%) and PEG3 (5.6%), and activating mutations in the GNAS oncogene (9.3%). These genes have functions that can be broadly grouped into three biological classes: (i) deactivation of histone modifiers, (ii) activation of G protein signaling and (iii) loss of genome stability. This study provides insight into the mutational landscape contributing to O. viverrini-related CCA.
Paper Status
Curated
Genes Analysed
215
Mutations
374

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

This tab shows samples without mutations in the selected study/paper [more details]
Non-Mutant Samples Sample Id (COSS)

Mutated Samples

This tab shows mutated samples in the selected study/paper [more details]
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