Document Detail


The genetic landscape of mutations in Burkitt lymphoma.
MedLine Citation:
PMID:  23143597     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Cassandra Love; Zhen Sun; Dereje Jima; Guojie Li; Jenny Zhang; Rodney Miles; Kristy L Richards; Cherie H Dunphy; William W L Choi; Gopesh Srivastava; Patricia L Lugar; David A Rizzieri; Anand S Lagoo; Leon Bernal-Mizrachi; Karen P Mann; Christopher R Flowers; Kikkeri N Naresh; Andrew M Evens; Amy Chadburn; Leo I Gordon; Magdalena B Czader; Javed I Gill; Eric D Hsi; Adrienne Greenough; Andrea B Moffitt; Matthew McKinney; Anjishnu Banerjee; Vladimir Grubor; Shawn Levy; David B Dunson; Sandeep S Dave
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2012-11-11
Journal Detail:
Title:  Nature genetics     Volume:  44     ISSN:  1546-1718     ISO Abbreviation:  Nat. Genet.     Publication Date:  2012 Dec 
Date Detail:
Created Date:  2012-11-29     Completed Date:  2013-02-13     Revised Date:  2013-07-11    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1321-5     Citation Subset:  IM    
Affiliation:
Duke Institute for Genome Sciences and Policy, Duke University, Durham, NC, USA.
Data Bank Information
Bank Name/Acc. No.:
GEO/GSE22898
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MeSH Terms
Descriptor/Qualifier:
Ammonia-Lyases / genetics
Base Sequence
Burkitt Lymphoma / genetics*
Cell Line, Tumor
Chaperonin Containing TCP-1 / genetics
DNA Helicases / genetics
GTP-Binding Protein alpha Subunits, G12-G13 / genetics
Genes, myc / genetics
Genome, Human
Glutamate Formimidoyltransferase / genetics
Homeodomain Proteins / genetics
Humans
Inhibitor of Differentiation Proteins / genetics
Lymphoma, Large B-Cell, Diffuse / genetics
Membrane Proteins / genetics
Molecular Sequence Data
Mutation*
Neoplasm Proteins / genetics
Nuclear Proteins / genetics
Proto-Oncogene Proteins c-ret / genetics
Sequence Analysis, DNA
Transcription Factors / genetics
Translocation, Genetic
Grant Support
ID/Acronym/Agency:
R01 ES017436/ES/NIEHS NIH HHS; R01CA136895/CA/NCI NIH HHS; R21CA1561686/CA/NCI NIH HHS
Chemical
Reg. No./Substance:
0/ARID1A protein, human; 0/CCT6B protein, human; 0/Homeodomain Proteins; 0/Inhibitor of Differentiation Proteins; 0/Membrane Proteins; 0/Neoplasm Proteins; 0/Nuclear Proteins; 0/PIK3IP1 protein, human; 0/SALL3 protein, human; 0/Transcription Factors; 147785-34-0/ID3 protein, human; EC 2.1.2.5/FTCD protein, human; EC 2.1.2.5/Glutamate Formimidoyltransferase; EC 2.7.10.1/Proto-Oncogene Proteins c-ret; EC 2.7.10.1/RET protein, human; EC 3.6.1.-/Chaperonin Containing TCP-1; EC 3.6.1.-/DNA Helicases; EC 3.6.1.-/SMARCA4 protein, human; EC 3.6.5.1/GTP-Binding Protein alpha Subunits, G12-G13; EC 4.3.1.-/Ammonia-Lyases
Comments/Corrections

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