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@ARTICLE{Sieverling:153604,
author = {L. Sieverling$^*$ and C. Hong$^*$ and S. D. Koser and P.
Ginsbach$^*$ and K. Kleinheinz$^*$ and B. Hutter$^*$ and D.
Braun$^*$ and I. Cortés-Ciriano and R. Xi and R. Kabbe$^*$
and P. J. Park and R. Eils$^*$ and M. Schlesner$^*$ and B.
Brors$^*$ and K. Rippe$^*$ and D. T. W. Jones$^*$ and L.
Feuerbach$^*$ 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
M. Meyerson 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. V. W. Group and P. Consortium},
title = {{G}enomic footprints of activated telomere maintenance
mechanisms in cancer.},
journal = {Nature Communications},
volume = {11},
number = {1},
issn = {2041-1723},
address = {[London]},
publisher = {Nature Publishing Group UK},
reportid = {DKFZ-2020-00348},
pages = {733},
year = {2020},
note = {#EA:B330#LA:B330#},
abstract = {Cancers require telomere maintenance mechanisms for
unlimited replicative potential. They achieve this through
TERT activation or alternative telomere lengthening
associated with ATRX or DAXX loss. Here, as part of the
ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG)
Consortium, we dissect whole-genome sequencing data of over
2500 matched tumor-control samples from 36 different tumor
types aggregated within the ICGC/TCGA Pan-Cancer Analysis of
Whole Genomes (PCAWG) Consortium to characterize the genomic
footprints of these mechanisms. While the telomere content
of tumors with ATRX or DAXX mutations (ATRX/DAXXtrunc) is
increased, tumors with TERT modifications show a moderate
decrease of telomere content. One quarter of all tumor
samples contain somatic integrations of telomeric sequences
into non-telomeric DNA. This fraction is increased to $80\%$
prevalence in ATRX/DAXXtrunc tumors, which carry an aberrant
telomere variant repeat (TVR) distribution as another
genomic marker. The latter feature includes enrichment or
depletion of the previously undescribed singleton TVRs
TTCGGG and TTTGGG, respectively. Our systematic analysis
provides new insight into the recurrent genomic alterations
associated with telomere maintenance mechanisms in cancer.},
cin = {B330 / B080 / B066 / B240 / HD01 / B062 / B360 / B063},
ddc = {500},
cid = {I:(DE-He78)B330-20160331 / I:(DE-He78)B080-20160331 /
I:(DE-He78)B066-20160331 / I:(DE-He78)B240-20160331 /
I:(DE-He78)HD01-20160331 / I:(DE-He78)B062-20160331 /
I:(DE-He78)B360-20160331 / I:(DE-He78)B063-20160331},
pnm = {312 - Functional and structural genomics (POF3-312)},
pid = {G:(DE-HGF)POF3-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:32024817},
pmc = {pmc:PMC7002710},
doi = {10.1038/s41467-019-13824-9},
url = {https://inrepo02.dkfz.de/record/153604},
}