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@ARTICLE{Voronina:154753,
author = {N. Voronina$^*$ and J. K. L. Wong$^*$ and D.
Hübschmann$^*$ and M. Hlevnjak$^*$ and S. Uhrig$^*$ and C.
Heilig$^*$ and P. Horak$^*$ and S. Kreutzfeldt$^*$ and A.
Mock$^*$ and A. Stenzinger and B. Hutter$^*$ and M.
Fröhlich$^*$ and B. Brors$^*$ and A. Jahn$^*$ and B.
Klink$^*$ and L. Gieldon and L. Sieverling$^*$ and L.
Feuerbach$^*$ and P. Chudasama$^*$ and K. Beck$^*$ and M.
Kroiss and C. Heining$^*$ and L. Möhrmann$^*$ and A.
Fischer$^*$ and E. Schröck$^*$ and H. Glimm$^*$ and M.
Zapatka$^*$ and P. Lichter$^*$ and S. Fröhling$^*$ and A.
Ernst$^*$},
title = {{T}he landscape of chromothripsis across adult cancer
types.},
journal = {Nature Communications},
volume = {11},
number = {1},
issn = {2041-1723},
address = {[London]},
publisher = {Nature Publishing Group UK},
reportid = {DKFZ-2020-01001},
pages = {2320},
year = {2020},
note = {#EA:B420#EA:B060#LA:B420#LA:B060#},
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.},
cin = {B420 / B060 / HD01 / B330 / B340 / DD01 / B390},
ddc = {500},
cid = {I:(DE-He78)B420-20160331 / I:(DE-He78)B060-20160331 /
I:(DE-He78)HD01-20160331 / I:(DE-He78)B330-20160331 /
I:(DE-He78)B340-20160331 / I:(DE-He78)DD01-20160331 /
I:(DE-He78)B390-20160331},
pnm = {312 - Functional and structural genomics (POF3-312)},
pid = {G:(DE-HGF)POF3-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:32385320},
doi = {10.1038/s41467-020-16134-7},
url = {https://inrepo02.dkfz.de/record/154753},
}