Journal Article

DKFZ-2020-00439

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing.

Cortés-Ciriano, I. ; Lee, J. J. ; Xi, R. ; Jain, D. ; Jung, Y. L. ; Yang, L. ; Gordenin, D. ; Klimczak, L. J. ; Zhang, C.-Z. ; Pellman, D. S. ; Group, P. S. V. W. (Collaboration Author) ; Park, P. J. ; Consortium, P. (Collaboration Author) ; Akdemir, K. C. ; Alvarez, E. G. ; Baez-Ortega, A. ; Beroukhim, R. ; Boutros, P. C. ; Bowtell, D. D. L. ; Brors, B.DKFZ* ; Burns, K. H. ; Campbell, P. J. ; Chan, K. ; Chen, K. ; Cortés-Ciriano, I. ; Dueso-Barroso, A. ; Dunford, A. J. ; Edwards, P. A. ; Estivill, X. ; Etemadmoghadam, D. ; Feuerbach, L.DKFZ* ; Fink, J. L. ; Frenkel-Morgenstern, M. ; Garsed, D. W. ; Gerstein, M. ; Gordenin, D. A. ; Haan, D. ; Haber, J. E. ; Hess, J. M. ; Hutter, B.DKFZ* ; Imielinski, M. ; Jones, D. T. W.DKFZ* ; Ju, Y. S. ; Kazanov, M. D. ; Klimczak, L. J. ; Koh, Y. ; Korbel, J. O. ; Kumar, K. ; Lee, E. A. ; Lee, J. J. ; Li, Y. ; Lynch, A. G. ; Macintyre, G. ; Markowetz, F. ; Martincorena, I. ; Martinez-Fundichely, A. ; Miyano, S. ; Nakagawa, H. ; Navarro, F. C. P. ; Ossowski, S. ; Park, P. J. ; Pearson, J. V. ; Puiggròs, M. ; Rippe, K.DKFZ* ; Roberts, N. D. ; Roberts, S. A. ; Rodriguez-Martin, B. ; Schumacher, S. E. ; Scully, R. ; Shackleton, M. ; Sidiropoulos, N. ; Sieverling, L.DKFZ* ; Stewart, C. ; Sültmann, H.DKFZ* ; Torrents, D. ; Tubio, J. M. C. ; Villasante, I. ; Waddell, N. ; Wala, J. A. ; Weischenfeldt, J. ; Yang, L. ; Yao, X. ; Yoon, S.-S. ; Zamora, J. ; Zhang, C.-Z.

2020
Macmillan Publishers Limited, part of Springer Nature London

This record in other databases:  

Please use a persistent id in citations: doi:10.1038/s41588-019-0576-7

Abstract: Chromothripsis is a mutational phenomenon characterized by massive, clustered genomic rearrangements that occurs in cancer and other diseases. Recent studies in selected cancer types have suggested that chromothripsis may be more common than initially inferred from low-resolution copy-number data. Here, as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA), we analyze patterns of chromothripsis across 2,658 tumors from 38 cancer types using whole-genome sequencing data. We find that chromothripsis events are pervasive across cancers, with a frequency of more than 50% in several cancer types. Whereas canonical chromothripsis profiles display oscillations between two copy-number states, a considerable fraction of events involve multiple chromosomes and additional structural alterations. In addition to non-homologous end joining, we detect signatures of replication-associated processes and templated insertions. Chromothripsis contributes to oncogene amplification and to inactivation of genes such as mismatch-repair-related genes. These findings show that chromothripsis is a major process that drives genome evolution in human cancer.

Note: 2020 Mar;52(3):331-341 / In the version of this article initially published, author Peter J. Park had affiliation numbers 2 and 3; the correct affiliation numbers are1 and 2. The error has been corrected in the HTML and PDF versions of the article.

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Contributing Institute(s):

1. Angewandte Bioinformatik (B330)
2. Pediatric Glioma (B360)
3. Translationale Medizinische Onkologie (B340)
4. DKTK HD zentral (HD01)
5. B063 Krebsgenomforschung (B063)
6. B066 Chromatin-Netzwerke (B066)

Research Program(s):

1. 312 - Functional and structural genomics (POF3-312) (POF3-312)

Appears in the scientific report 2020

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Database coverage:
; BIOSIS Previews ; Clarivate Analytics Master Journal List ; Current Contents - Life Sciences ; Ebsco Academic Search ; IF >= 25 ; JCR ; NCBI Molecular Biology Database ; Nationallizenz ; SCOPUS ; Science Citation Index ; Science Citation Index Expanded ; Web of Science Core Collection

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