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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},
}