% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Li:163800,
      author       = {Y. Li and N. D. Roberts and J. A. Wala and O. Shapira and
                      S. E. Schumacher and K. Kumar and E. Khurana and S. Waszak
                      and J. O. Korbel and J. E. Haber and M. Imielinski and
                      PCAWGStructuralVariationWorkingGroup and J. Weischenfeldt
                      and R. Beroukhim and P. J. Campbell and PCAWGConsortium},
      title        = {{P}atterns of somatic structural variation in human cancer
                      genomes.},
      journal      = {Nature},
      volume       = {578},
      number       = {7793},
      issn         = {1476-4687},
      address      = {London [u.a.]},
      publisher    = {Nature Publ. Group52462},
      reportid     = {DKFZ-2020-02053},
      pages        = {112 - 121},
      year         = {2020},
      note         = {siehe Correction: DKFZ Autoren affiliiert im PCAWG
                      Consortium: https://inrepo02.dkfz.de/record/265691 /
                      https://doi.org/10.1038/s41586-022-05597-x},
      abstract     = {A key mutational process in cancer is structural variation,
                      in which rearrangements delete, amplify or reorder genomic
                      segments that range in size from kilobases to whole
                      chromosomes1-7. Here we develop methods to group, classify
                      and describe somatic structural variants, using data from
                      the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium
                      of the International Cancer Genome Consortium (ICGC) and The
                      Cancer Genome Atlas (TCGA), which aggregated whole-genome
                      sequencing data from 2,658 cancers across 38 tumour
                      types8. Sixteen signatures of structural variation emerged.
                      Deletions have a multimodal size distribution, assort
                      unevenly across tumour types and patients, are enriched in
                      late-replicating regions and correlate with inversions.
                      Tandem duplications also have a multimodal size
                      distribution, but are enriched in early-replicating
                      regions-as are unbalanced translocations. Replication-based
                      mechanisms of rearrangement generate varied chromosomal
                      structures with low-level copy-number gains and frequent
                      inverted rearrangements. One prominent structure consists of
                      2-7 templates copied from distinct regions of the genome
                      strung together within one locus. Such cycles of templated
                      insertions correlate with tandem duplications, and-in liver
                      cancer-frequently activate the telomerase gene TERT. A wide
                      variety of rearrangement processes are active in cancer,
                      which generate complex configurations of the genome upon
                      which selection can act.},
      keywords     = {Gene Rearrangement: genetics / Genetic Variation / Genome,
                      Human: genetics / Genomics / Humans / Mutagenesis,
                      Insertional / Neoplasms: genetics / Telomerase: genetics /
                      TERT protein, human (NLM Chemicals) / Telomerase (NLM
                      Chemicals)},
      cin          = {B370 / B330 / B240 / HD01 / B080 / B060 / B062 / B360 /
                      B260 / BE01 / B063 / B087 / W610 / W190 / B066},
      ddc          = {500},
      cid          = {I:(DE-He78)B370-20160331 / I:(DE-He78)B330-20160331 /
                      I:(DE-He78)B240-20160331 / I:(DE-He78)HD01-20160331 /
                      I:(DE-He78)B080-20160331 / I:(DE-He78)B060-20160331 /
                      I:(DE-He78)B062-20160331 / I:(DE-He78)B360-20160331 /
                      I:(DE-He78)B260-20160331 / I:(DE-He78)BE01-20160331 /
                      I:(DE-He78)B063-20160331 / I:(DE-He78)B087-20160331 /
                      I:(DE-He78)W610-20160331 / I:(DE-He78)W190-20160331 /
                      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:32025012},
      pmc          = {pmc:PMC7025897},
      doi          = {10.1038/s41586-019-1913-9},
      url          = {https://inrepo02.dkfz.de/record/163800},
}