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@ARTICLE{Denisova:169023,
      author       = {E. Denisova$^*$ and D. Westphal and H. M. Surowy and F.
                      Meier and B. Hutter$^*$ and J. Reifenberger and A. Rütten
                      and A. Schulz and M. Sergon and M. Ziemer and B. Brors$^*$
                      and R. C. Betz and S. Redler},
      title        = {{W}hole-exome sequencing in eccrine porocarcinoma indicates
                      promising therapeutic strategies.},
      journal      = {Cancer gene therapy},
      volume       = {29},
      number       = {6},
      issn         = {1476-5500},
      address      = {New York, NY},
      publisher    = {Nature Publ. Group},
      reportid     = {DKFZ-2021-01191},
      pages        = {697-708},
      year         = {2022},
      note         = {#EA:B330# / 2022 Jun;29(6):697-708},
      abstract     = {Malignant sweat gland tumours are rare, with the most
                      common form being Eccrine porocarcinoma (EP). To investigate
                      the mutational landscape of EP, we performed whole-exome
                      sequencing (WES) on 14 formalin-fixed paraffin-embedded
                      samples of matched primary EP and healthy surrounding
                      tissue. Mutational profiling revealed a high overall median
                      mutation rate. This was attributed to signatures of
                      mutational processes related to ultraviolet (UV) exposure,
                      APOBEC enzyme dysregulation, and defective homologous
                      double-strand break repair. All of these processes cause
                      genomic instability and are implicated in carcinogenesis.
                      Recurrent driving somatic alterations were detected in the
                      EP candidate drivers TP53, FAT2, CACNA1S, and KMT2D. The
                      analyses also identified copy number alterations and
                      recurrent gains and losses in several chromosomal regions
                      including that containing BRCA2, as well as deleterious
                      alterations in multiple HRR components. In accordance with
                      this reduced or even a complete loss of BRCA2 protein
                      expression was detected in $50\%$ of the investigated EP
                      tumours. Our results implicate crucial oncogenic driver
                      pathways and suggest that defective homologous double-strand
                      break repair and the p53 pathway are involved in EP
                      aetiology. Targeting of the p53 axis and PARP inhibition,
                      and/or immunotherapy may represent promising treatment
                      strategies.},
      cin          = {B330 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)B330-20160331 / I:(DE-He78)HD01-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:34045664},
      doi          = {10.1038/s41417-021-00347-z},
      url          = {https://inrepo02.dkfz.de/record/169023},
}