Reference Overview - PMID22797305

Overview

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Reference

A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers.

Paper Id
COSP29313
Authors
Lee RS,Stewart C,Carter SL,Ambrogio L,Cibulskis K,Sougnez C,Lawrence MS,Auclair D,Mora J,Golub TR,Biegel JA,Getz G and Roberts CW
Journal
The Journal of clinical investigation 2012;122(8):2983-8
ISSN:1558-8238
PUBMED:22797305
Abstract
Cancer is principally considered a genetic disease, and numerous mutations are thought essential to drive its growth. However, the existence of genomically stable cancers and the emergence of mutations in genes that encode chromatin remodelers raise the possibility that perturbation of chromatin structure and epigenetic regulation are capable of driving cancer formation. Here we sequenced the exomes of 35 rhabdoid tumors, highly aggressive cancers of early childhood characterized by biallelic loss of SMARCB1, a subunit of the SWI/SNF chromatin remodeling complex. We identified an extremely low rate of mutation, with loss of SMARCB1 being essentially the sole recurrent event. Indeed, in 2 of the cancers there were no other identified mutations. Our results demonstrate that high mutation rates are dispensable for the genesis of cancers driven by mutation of a chromatin remodeling complex. Consequently, cancer can be a remarkably genetically simple disease.
Paper Status
Curated
Genes Analysed
348
Mutations
366

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