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@ARTICLE{Thatikonda:212494,
author = {V. Thatikonda$^*$ and S. M. A. Islam and R. Autry$^*$ and
B. Jones$^*$ and S. Gröbner$^*$ and G. Warsow$^*$ and B.
Hutter$^*$ and D. Hübschmann$^*$ and S. Fröhling$^*$ and
M. Kool$^*$ and M. Blattner-Johnson$^*$ and D. Jones$^*$ and
L. B. Alexandrov and S. Pfister$^*$ and N. Jäger$^*$},
title = {{C}omprehensive analysis of mutational signatures reveals
distinct patterns and molecular processes across 27
pediatric cancers.},
journal = {Nature cancer},
volume = {4},
number = {2},
issn = {2662-1347},
address = {London},
publisher = {Nature Research},
reportid = {DKFZ-2023-00195},
pages = {276-289},
year = {2023},
note = {#EA:B062#LA:B062# / 2023 Feb;4(2):276-289},
abstract = {Analysis of mutational signatures can reveal underlying
molecular mechanisms of the processes that have imprinted
the somatic mutations found in cancer genomes. Here, we
analyze single base substitutions and small insertions and
deletions in pediatric cancers encompassing 785 whole-genome
sequenced tumors from 27 molecularly defined cancer
subtypes. We identified only a small number of mutational
signatures active in pediatric cancers, compared with
previously analyzed adult cancers. Further, we report a
significant difference in the proportion of pediatric tumors
showing homologous recombination repair defect signatures
compared with previous analyses. In pediatric leukemias, we
identified an indel signature, not previously reported,
characterized by long insertions in nonrepeat regions,
affecting mainly intronic and intergenic regions, but also
exons of known cancer genes. We provide a systematic
overview of COSMIC v.3 mutational signatures active across
pediatric cancers, which is highly relevant for
understanding tumor biology and enabling future research in
defining biomarkers of treatment response.},
cin = {B062 / HD01 / B360 / W610 / B330 / B340},
ddc = {610},
cid = {I:(DE-He78)B062-20160331 / I:(DE-He78)HD01-20160331 /
I:(DE-He78)B360-20160331 / I:(DE-He78)W610-20160331 /
I:(DE-He78)B330-20160331 / I:(DE-He78)B340-20160331},
pnm = {312 - Funktionelle und strukturelle Genomforschung
(POF4-312)},
pid = {G:(DE-HGF)POF4-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:36702933},
doi = {10.1038/s43018-022-00509-4},
url = {https://inrepo02.dkfz.de/record/212494},
}