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Landscape of somatic mutations in 560 breast cancer whole-genome sequences [electronic resource].

Published
Washington, D.C. : United States. Dept. of Energy, 2016.
Oak Ridge, Tenn. : Distributed by the Office of Scientific and Technical Information, U.S. Dept. of Energy
Physical Description
pages 47-54 : digital, PDF file
Additional Creators
Los Alamos National Laboratory, United States. Department of Energy, and United States. Department of Energy. Office of Scientific and Technical Information
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Summary
Here, we analysed whole-genome sequences of 560 breast cancers to advance understanding of the driver mutations conferring clonal advantage and the mutational processes generating somatic mutations. We found that 93 protein-coding cancer genes carried probable driver mutations. Some non-coding regions exhibited high mutation frequencies, but most have distinctive structural features probably causing elevated mutation rates and do not contain driver mutations. Mutational signature analysis was extended to genome rearrangements and revealed twelve base substitution and six rearrangement signatures. Three rearrangement signatures, characterized by tandem duplications or deletions, appear associated with defective homologous-recombination-based DNA repair: one with deficient BRCA1 function, another with deficient BRCA1 or BRCA2 function, the cause of the third is unknown. This analysis of all classes of somatic mutation across exons, introns and intergenic regions highlights the repertoire of cancer genes and mutational processes operating, and progresses towards a comprehensive account of the somatic genetic basis of breast cancer.
Report Numbers
E 1.99:la-ur--15-24625
la-ur--15-24625
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Note
Published through SciTech Connect.
05/02/2016.
"la-ur--15-24625"
Nature (London) 534 7605 ISSN 0028-0836 AM
Serena Nik-Zainal; Helen Davies; Johan Staaf; Manasa Ramakrishna; Dominik Glodzik; Xueqing Zou; Inigo Martincorena; Ludmil B. Alexandrov; Sancha Martin; David C. Wedge; Peter Van Loo; Young Seok Ju; Marcel Smid; Arie B. Brinkman; Sandro Morganella; Miriam R. Aure; Ole Christian Lingjærde; Anita Langerod; Markus Ringner; Sung -Min Ahn; Sandrine Boyault; Jane E. Brock; Annegien Broeks; Adam Butler; Christine Desmedt; et al.
Funding Information
AC52-06NA25396
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