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@ARTICLE{CortsCiriano:153754,
author = {I. Cortés-Ciriano and J. J. Lee and R. Xi and D. Jain and
Y. L. Jung and L. Yang and D. Gordenin and L. J. Klimczak
and C.-Z. Zhang and D. S. Pellman and P. J. Park and K. C.
Akdemir and E. G. Alvarez and A. Baez-Ortega and R.
Beroukhim and P. C. Boutros and D. D. L. Bowtell and B.
Brors$^*$ and K. H. Burns and P. J. Campbell and K. Chan and
K. Chen and I. Cortés-Ciriano and A. Dueso-Barroso and A.
J. Dunford and P. A. Edwards and X. Estivill and D.
Etemadmoghadam and L. Feuerbach$^*$ and J. L. Fink and M.
Frenkel-Morgenstern and D. W. Garsed and M. Gerstein and D.
A. Gordenin and D. Haan and J. E. Haber and J. M. Hess and
B. Hutter$^*$ and M. Imielinski and D. T. W. Jones$^*$ and
Y. S. Ju and M. D. Kazanov and L. J. Klimczak and Y. Koh and
J. O. Korbel and K. Kumar and E. A. Lee and J. J. Lee and Y.
Li and A. G. Lynch and G. Macintyre and F. Markowetz and I.
Martincorena and A. Martinez-Fundichely and S. Miyano and H.
Nakagawa and F. C. P. Navarro and S. Ossowski and P. J. Park
and J. V. Pearson and M. Puiggròs and K. Rippe$^*$ and N.
D. Roberts and S. A. Roberts and B. Rodriguez-Martin and S.
E. Schumacher and R. Scully and M. Shackleton and N.
Sidiropoulos and L. Sieverling$^*$ and C. Stewart and H.
Sültmann$^*$ and D. Torrents and J. M. C. Tubio and I.
Villasante and N. Waddell and J. A. Wala and J.
Weischenfeldt and L. Yang and X. Yao and S.-S. Yoon and J.
Zamora and C.-Z. Zhang},
collaboration = {P. S. V. W. Group and P. Consortium},
title = {{C}omprehensive analysis of chromothripsis in 2,658 human
cancers using whole-genome sequencing.},
journal = {Nature genetics},
volume = {52},
number = {3},
issn = {1546-1718},
address = {London},
publisher = {Macmillan Publishers Limited, part of Springer Nature},
reportid = {DKFZ-2020-00439},
pages = {331-341},
year = {2020},
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.},
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.},
cin = {B330 / B360 / B340 / HD01 / B063 / B066},
ddc = {570},
cid = {I:(DE-He78)B330-20160331 / I:(DE-He78)B360-20160331 /
I:(DE-He78)B340-20160331 / I:(DE-He78)HD01-20160331 /
I:(DE-He78)B063-20160331 / I:(DE-He78)B066-20160331},
pnm = {312 - Functional and structural genomics (POF3-312)},
pid = {G:(DE-HGF)POF3-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:32025003},
doi = {10.1038/s41588-019-0576-7},
url = {https://inrepo02.dkfz.de/record/153754},
}