The landscape of chromothripsis across adult cancer types

Natalia Voronina, John K. L. Wong, Daniel Hübschmann, Mario Hlevnjak, Sebastian Uhrig, Christoph E. Heilig, Peter Horak, Simon Kreutzfeldt, Andreas Mock, Albrecht Stenzinger, Barbara Hutter, Martina Fröhlich, Benedikt Brors, Arne Jahn, Barbara Klink, Laura Gieldon, Lina Sieverling, Lars Feuerbach, Priya Chudasama, Katja Beck, Matthias Kroiss, Christoph Heining, Lino Möhrmann, Andrea Fischer, Evelin Schröck, Hanno Glimm, Marc Zapatka, Peter Lichter, Stefan Fröhling and Aurélie Ernst ()
Additional contact information
Natalia Voronina: DKFZ
John K. L. Wong: DKFZ
Daniel Hübschmann: German Cancer Consortium (DKTK)
Mario Hlevnjak: DKFZ
Sebastian Uhrig: DKFZ
Christoph E. Heilig: German Cancer Consortium (DKTK)
Peter Horak: German Cancer Consortium (DKTK)
Simon Kreutzfeldt: German Cancer Consortium (DKTK)
Andreas Mock: German Cancer Consortium (DKTK)
Albrecht Stenzinger: Heidelberg University Hospital
Barbara Hutter: DKFZ
Martina Fröhlich: DKFZ
Benedikt Brors: DKFZ and NCT Heidelberg
Arne Jahn: German Cancer Consortium (DKTK)
Barbara Klink: German Cancer Consortium (DKTK)
Laura Gieldon: German Cancer Consortium (DKTK)
Lina Sieverling: DKFZ and NCT Heidelberg
Lars Feuerbach: DKFZ and NCT Heidelberg
Priya Chudasama: DKFZ, National Center for Tumor (NCT) Diseases
Katja Beck: German Cancer Consortium (DKTK)
Matthias Kroiss: University Hospital Würzburg
Christoph Heining: NCT Dresden, Dresden, and DKFZ
Lino Möhrmann: NCT Dresden, Dresden, and DKFZ
Andrea Fischer: German Cancer Consortium (DKTK)
Evelin Schröck: German Cancer Consortium (DKTK)
Hanno Glimm: NCT Dresden, Dresden, and DKFZ
Marc Zapatka: DKFZ
Peter Lichter: DKFZ
Stefan Fröhling: German Cancer Consortium (DKTK)
Aurélie Ernst: DKFZ

Nature Communications, 2020, vol. 11, issue 1, 1-13

Abstract: Abstract Chromothripsis is a recently identified mutational phenomenon, by which a presumably single catastrophic event generates extensive genomic rearrangements of one or a few chromosome(s). Considered as an early event in tumour development, this form of genome instability plays a prominent role in tumour onset. Chromothripsis prevalence might have been underestimated when using low-resolution methods, and pan-cancer studies based on sequencing are rare. Here we analyse chromothripsis in 28 tumour types covering all major adult cancers (634 tumours, 316 whole-genome and 318 whole-exome sequences). We show that chromothripsis affects a substantial proportion of human cancers, with a prevalence of 49% across all cases. Chromothripsis generates entity-specific genomic alterations driving tumour development, including clinically relevant druggable fusions. Chromothripsis is linked with specific telomere patterns and univocal mutational signatures in distinct tumour entities. Longitudinal analysis of chromothriptic patterns in 24 matched tumour pairs reveals insights in the clonal evolution of tumours with chromothripsis.

Date: 2020
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DOI: 10.1038/s41467-020-16134-7

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