Item type: | Article | ||||||||||||||||||||||||||||||||||||||||||
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Journal or Publication Title: | Nature genetics | ||||||||||||||||||||||||||||||||||||||||||
Publisher: | NATURE PUBLISHING GROUP | ||||||||||||||||||||||||||||||||||||||||||
Place of Publication: | NEW YORK | ||||||||||||||||||||||||||||||||||||||||||
Volume: | 44 | ||||||||||||||||||||||||||||||||||||||||||
Number of Issue or Book Chapter: | 12 | ||||||||||||||||||||||||||||||||||||||||||
Page Range: | pp. 1316-1320 | ||||||||||||||||||||||||||||||||||||||||||
Date: | December 2012 | ||||||||||||||||||||||||||||||||||||||||||
Institutions: | Medicine > Institut für Funktionelle Genomik > Lehrstuhl für Statistische Bioinformatik (Prof. Spang) Informatics and Data Science > Department Computational Life Science > Lehrstuhl für Statistische Bioinformatik (Prof. Spang) | ||||||||||||||||||||||||||||||||||||||||||
Identification Number: |
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Classification: |
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Keywords: | B-CELL LYMPHOMA; MYC; INACTIVATION; DIAGNOSIS; PROTEINS; | ||||||||||||||||||||||||||||||||||||||||||
Dewey Decimal Classification: | 600 Technology > 610 Medical sciences Medicine 500 Science > 570 Life sciences 600 Technology > 610 Medical sciences Medicine | ||||||||||||||||||||||||||||||||||||||||||
Status: | Published | ||||||||||||||||||||||||||||||||||||||||||
Refereed: | Yes, this version has been refereed | ||||||||||||||||||||||||||||||||||||||||||
Created at the University of Regensburg: | Partially | ||||||||||||||||||||||||||||||||||||||||||
Item ID: | 30600 |
Abstract
Burkitt lymphoma is a mature aggressive B-cell lymphoma derived from germinal center B cells(1). Its cytogenetic hallmark is the Burkitt translocation t(8;14)(q24;q32) and its variants, which juxtapose the MYC oncogene with one of the three immunoglobulin loci(2). Consequently, MYC is deregulated, resulting in massive perturbation of gene expression(3). Nevertheless, MYC deregulation alone seems ...
Abstract
Burkitt lymphoma is a mature aggressive B-cell lymphoma derived from germinal center B cells(1). Its cytogenetic hallmark is the Burkitt translocation t(8;14)(q24;q32) and its variants, which juxtapose the MYC oncogene with one of the three immunoglobulin loci(2). Consequently, MYC is deregulated, resulting in massive perturbation of gene expression(3). Nevertheless, MYC deregulation alone seems not to be sufficient to drive Burkitt lymphomagenesis. By whole-genome, whole-exome and transcriptome sequencing of four prototypical Burkitt lymphomas with immunoglobulin gene (IG)-MYC translocation, we identified seven recurrently mutated genes. One of these genes, ID3, mapped to a region of focal homozygous loss in Burkitt lymphoma(4). In an extended cohort, 36 of 53 molecularly defined Burkitt lymphomas (68%) carried potentially damaging mutations of ID3. These were strongly enriched at somatic hypermutation motifs. Only 6 of 47 other B-cell lymphomas with the IG-MYC translocation (13%) carried ID3 mutations. These findings suggest that cooperation between ID3 inactivation and IG-MYC translocation is a hallmark of Burkitt lymphomagenesis.
Metadata last modified: 03 Mar 2022 10:57