Initial genome sequencing and analysis of multiple myeloma
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Lander_Initial genome.pdf
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1.19 MB
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Author(s)
Chapman, Michael A.
Lawrence, Michael S.
Keats, Jonathan J.
Cibulskis, Kristian
Sougnez, Carrie
Schinzel, Anna C.
Harview, Christina L.
Brunet, Jean-Philippe
Ahmann, Gregory J.
Adli, Mazhar
Date Issued
March 2011
Journal
Nature
Publisher
Nature Publishing Group
Citation
Chapman, Michael A., Michael S. Lawrence, Jonathan J. Keats, Kristian Cibulskis, Carrie Sougnez, Anna C. Schinzel, Christina L. Harview, et al. “Initial genome sequencing and analysis of multiple myeloma.” Nature 471, no. 7339 (March 24, 2011): 467-472.
Version
Author's final manuscript
Abstract
Multiple myeloma is an incurable malignancy of plasma cells, and its pathogenesis is poorly understood. Here we report the massively parallel sequencing of 38 tumour genomes and their comparison to matched normal DNAs. Several new and unexpected oncogenic mechanisms were suggested by the pattern of somatic mutation across the data set. These include the mutation of genes involved in protein translation (seen in nearly half of the patients), genes involved in histone methylation, and genes involved in blood coagulation. In addition, a broader than anticipated role of NF-κB signalling was indicated by mutations in 11 members of the NF-κB pathway. Of potential immediate clinical relevance, activating mutations of the kinase BRAF were observed in 4% of patients, suggesting the evaluation of BRAF inhibitors in multiple myeloma clinical trials. These results indicate that cancer genome sequencing of large collections of samples will yield new insights into cancer not anticipated by existing knowledge.
MIT Department
Massachusetts Institute of Technology. Department of Biology
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Creative Commons Attribution-Noncommercial-Share Alike 3.0
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DOI of Published Version
https://doi.org/10.1038/nature09837
