Reference Overview - PMID21822268

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Reference

Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder.

Paper Id
COSP26829
Authors
Gui Y,Guo G,Huang Y,Hu X,Tang A,Gao S,Wu R,Chen C,Li X,Zhou L,He M,Li Z,Sun X,Jia W,Chen J,Yang S,Zhou F,Zhao X,Wan S,Ye R,Liang C,Liu Z,Huang P,Liu C,Jiang H,Wang Y,Zheng H,Sun L,Liu X,Jiang Z,Feng D,Chen J,Wu S,Zou J,Zhang Z,Yang R,Zhao J,Xu C,Yin W,Guan Z,Ye J,Zhang H,Li J,Kristiansen K,Nickerson ML,Theodorescu D,Li Y,Zhang X,Li S,Wang J,Yang H,Wang J and Cai Z
Affiliation
Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Institute of Urology, Peking University Shenzhen Hospital, Shenzhen PKU-HKUST Medical Center, Shenzhen, China.
Journal
Nature genetics 2011;43(9):875-8
ISSN:1546-1718
PUBMED:21822268
Abstract
Transitional cell carcinoma (TCC) is the most common type of bladder cancer. Here we sequenced the exomes of nine individuals with TCC and screened all the somatically mutated genes in a prevalence set of 88 additional individuals with TCC with different tumor stages and grades. In our study, we discovered a variety of genes previously unknown to be mutated in TCC. Notably, we identified genetic aberrations of the chromatin remodeling genes (UTX, MLL-MLL3, CREBBP-EP300, NCOR1, ARID1A and CHD6) in 59% of our 97 subjects with TCC. Of these genes, we showed UTX to be altered substantially more frequently in tumors of low stages and grades, highlighting its potential role in the classification and diagnosis of bladder cancer. Our results provide an overview of the genetic basis of TCC and suggest that aberration of chromatin regulation might be a hallmark of bladder cancer.
Paper Status
Curated
Genes Analysed
465
Mutations
943

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

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Sample ID Sample Name ID NCV Annotation Zygosity Chromosome Genome start Genome stop Genome version Strand WT seq Mut seq