Reference Overview - PMID21248752

Overview

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

Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.

Paper Id
COSP25314
Authors
Varela I,Tarpey P,Raine K,Huang D,Ong CK,Stephens P,Davies H,Jones D,Lin ML,Teague J,Bignell G,Butler A,Cho J,Dalgliesh GL,Galappaththige D,Greenman C,Hardy C,Jia M,Latimer C,Lau KW,Marshall J,McLaren S,Menzies A,Mudie L,Stebbings L,Largaespada DA,Wessels LF,Richard S,Kahnoski RJ,Anema J,Tuveson DA,Perez-Mancera PA,Mustonen V,Fischer A,Adams DJ,Rust A,Chan-on W,Subimerb C,Dykema K,Furge K,Campbell PJ,Teh BT,Stratton MR and Futreal PA
Affiliation
Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK.
Journal
Nature 2011;469(7331):539-42
ISSN:1476-4687
PUBMED:21248752
Abstract
The genetics of renal cancer is dominated by inactivation of the VHL tumour suppressor gene in clear cell carcinoma (ccRCC), the commonest histological subtype. A recent large-scale screen of ∼3,500 genes by PCR-based exon re-sequencing identified several new cancer genes in ccRCC including UTX (also known as KDM6A), JARID1C (also known as KDM5C) and SETD2 (ref. 2). These genes encode enzymes that demethylate (UTX, JARID1C) or methylate (SETD2) key lysine residues of histone H3. Modification of the methylation state of these lysine residues of histone H3 regulates chromatin structure and is implicated in transcriptional control. However, together these mutations are present in fewer than 15% of ccRCC, suggesting the existence of additional, currently unidentified cancer genes. Here, we have sequenced the protein coding exome in a series of primary ccRCC and report the identification of the SWI/SNF chromatin remodelling complex gene PBRM1 (ref. 4) as a second major ccRCC cancer gene, with truncating mutations in 41% (92/227) of cases. These data further elucidate the somatic genetic architecture of ccRCC and emphasize the marked contribution of aberrant chromatin biology.
Paper Status
Curated
Genes Analysed
149
Mutations
288

Mutations

This tab shows genes with mutations in the selected study/paper [more details]
Genes Samples CDS Mutation AA Mutation

Non-Mutant Genes

This tab shows genes without mutations in the selected study/paper [more details]
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