Reference Overview - PMID23143597

Overview

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Reference

The genetic landscape of mutations in Burkitt lymphoma.

Paper Id
COSP30253
Authors
Love C,Sun Z,Jima D,Li G,Zhang J,Miles R,Richards KL,Dunphy CH,Choi WW,Srivastava G,Lugar PL,Rizzieri DA,Lagoo AS,Bernal-Mizrachi L,Mann KP,Flowers CR,Naresh KN,Evens AM,Chadburn A,Gordon LI,Czader MB,Gill JI,Hsi ED,Greenough A,Moffitt AB,McKinney M,Banerjee A,Grubor V,Levy S,Dunson DB and Dave SS
Affiliation
Duke Institute for Genome Sciences and Policy, Duke University, Durham, North Carolina, USA.
Journal
Nature genetics 2012
ISSN:1546-1718
PUBMED:23143597
Abstract
Burkitt lymphoma is characterized by deregulation of MYC, but the contribution of other genetic mutations to the disease is largely unknown. Here, we describe the first completely sequenced genome from a Burkitt lymphoma tumor and germline DNA from the same affected individual. We further sequenced the exomes of 59 Burkitt lymphoma tumors and compared them to sequenced exomes from 94 diffuse large B-cell lymphoma (DLBCL) tumors. We identified 70 genes that were recurrently mutated in Burkitt lymphomas, including ID3, GNA13, RET, PIK3R1 and the SWI/SNF genes ARID1A and SMARCA4. Our data implicate a number of genes in cancer for the first time, including CCT6B, SALL3, FTCD and PC. ID3 mutations occurred in 34% of Burkitt lymphomas and not in DLBCLs. We show experimentally that ID3 mutations promote cell cycle progression and proliferation. Our work thus elucidates commonly occurring gene-coding mutations in Burkitt lymphoma and implicates ID3 as a new tumor suppressor gene.
Paper Status
Curated
Genes Analysed
53
Mutations
163

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