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@ARTICLE{ICGCTCGAPanCancerAnalysisofWholeGenomesConsortium:156705,
      author       = {ICGC/TCGAPan-CancerAnalysisofWholeGenomesConsortium},
      title        = {{P}an-cancer analysis of whole genomes.},
      journal      = {Nature},
      volume       = {578},
      number       = {7793},
      issn         = {1476-4687},
      address      = {London [u.a.]},
      publisher    = {Nature Publ. Group52462},
      reportid     = {DKFZ-2020-01051},
      pages        = {82 - 93},
      year         = {2020},
      note         = {2020 Feb;578(7793):82-93 / siehe Correction: DKFZ Autoren
                      affiliiert im PCAWG Consortium:
                      https://inrepo02.dkfz.de/record/265692 /
                      https://doi.org/10.1038/s41586-022-05598-w},
      abstract     = {Cancer is driven by genetic change, and the advent of
                      massively parallel sequencing has enabled systematic
                      documentation of this variation at the whole-genome
                      scale1-3. Here we report the integrative analysis of
                      2,658 whole-cancer genomes and their matching normal
                      tissues across 38 tumour types from the Pan-Cancer Analysis
                      of Whole Genomes (PCAWG) Consortium of the International
                      Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas
                      (TCGA). We describe the generation of the PCAWG resource,
                      facilitated by international data sharing using compute
                      clouds. On average, cancer genomes contained 4-5 driver
                      mutations when combining coding and non-coding genomic
                      elements; however, in around $5\%$ of cases no drivers were
                      identified, suggesting that cancer driver discovery is not
                      yet complete. Chromothripsis, in which many clustered
                      structural variants arise in a single catastrophic event, is
                      frequently an early event in tumour evolution; in acral
                      melanoma, for example, these events precede most somatic
                      point mutations and affect several cancer-associated genes
                      simultaneously. Cancers with abnormal telomere maintenance
                      often originate from tissues with low replicative activity
                      and show several mechanisms of preventing telomere attrition
                      to critical levels. Common and rare germline variants affect
                      patterns of somatic mutation, including point mutations,
                      structural variants and somatic retrotransposition. A
                      collection of papers from the PCAWG Consortium describes
                      non-coding mutations that drive cancer beyond those in the
                      TERT promoter4; identifies new signatures of mutational
                      processes that cause base substitutions, small insertions
                      and deletions and structural variation5,6; analyses timings
                      and patterns of tumour evolution7; describes the diverse
                      transcriptional consequences of somatic mutation on
                      splicing, expression levels, fusion genes and promoter
                      activity8,9; and evaluates a range of more-specialized
                      features of cancer genomes8,10-18.},
      keywords     = {Cell Proliferation: genetics / Cellular Senescence:
                      genetics / Chromothripsis / Cloud Computing / DNA Mutational
                      Analysis / Evolution, Molecular / Female / Genome, Human:
                      genetics / Genomics / Germ-Line Mutation: genetics /
                      High-Throughput Nucleotide Sequencing / Humans / Information
                      Dissemination / Male / Mutagenesis: genetics / Mutation /
                      Neoplasms: classification / Neoplasms: genetics / Neoplasms:
                      pathology / Oncogenes: genetics / Promoter Regions, Genetic:
                      genetics / RNA Splicing: genetics / Reproducibility of
                      Results / Telomerase: genetics / Telomere: genetics / TERT
                      protein, human (NLM Chemicals) / Telomerase (NLM Chemicals)},
      cin          = {B080 / B240 / B260 / B340 / B330 / B062 / B087 / B370 /
                      B360 / B060 / B300 / W190 / B063 / BE01 / HD01},
      ddc          = {500},
      cid          = {I:(DE-He78)B080-20160331 / I:(DE-He78)B240-20160331 /
                      I:(DE-He78)B260-20160331 / I:(DE-He78)B340-20160331 /
                      I:(DE-He78)B330-20160331 / I:(DE-He78)B062-20160331 /
                      I:(DE-He78)B087-20160331 / I:(DE-He78)B370-20160331 /
                      I:(DE-He78)B360-20160331 / I:(DE-He78)B060-20160331 /
                      I:(DE-He78)B300-20160331 / I:(DE-He78)W190-20160331 /
                      I:(DE-He78)B063-20160331 / I:(DE-He78)BE01-20160331 /
                      I:(DE-He78)HD01-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:32025007},
      pmc          = {pmc:PMC7025898},
      doi          = {10.1038/s41586-020-1969-6},
      url          = {https://inrepo02.dkfz.de/record/156705},
}