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@ARTICLE{Friedrich:275926,
      author       = {U. A. Friedrich and M. Bienias and C. Zinke and M.
                      Prazenicova and J. Lohse and A. Jahn$^*$ and M. Menzel and
                      J. Langanke and C. Walter and R. Wagener and T. Brozou and
                      J. Varghese and M. Dugas and M. Erlacher and E. Schröck$^*$
                      and M. Suttorp and A. Borkhardt and J. Hauer and F. Auer},
      title        = {{A} clinical screening tool to detect genetic cancer
                      predisposition in pediatric oncology shows high sensitivity
                      but can miss a substantial percentage of affected children.},
      journal      = {Genetics in medicine},
      volume       = {25},
      number       = {8},
      issn         = {1098-3600},
      address      = {London, UK},
      publisher    = {Springer Nature},
      reportid     = {DKFZ-2023-00914},
      pages        = {100875},
      year         = {2023},
      note         = {2023 May 3;25(8):100875},
      abstract     = {Clinical checklists are the standard of care to determine
                      whether a child with cancer shows indications for genetic
                      testing. Nevertheless, the efficacy of these tests to
                      reliably detect genetic cancer predisposition in children
                      with cancer is still insufficiently investigated.We assessed
                      the validity of clinically recognizable signs to identify
                      cancer predisposition by correlating a state-of-the-art
                      clinical checklist to the corresponding exome sequencing
                      analysis in an unselected single-center cohort of 139
                      child-parent datasets.In total, 1/3rd of patients had a
                      clinical indication for genetic testing according to current
                      recommendations and $10.1\%$ (n=14/139) of children harbored
                      a cancer predisposition. Out of these, $71.4\%$ (n=10/14)
                      were identified through the clinical checklist. In addition,
                      >2 clinical findings in the checklist increased the
                      likelihood to identifying genetic predisposition from
                      $12.5\%$ to $50\%.$ While our data revealed a high rate of
                      genetic predisposition $(40\%,$ n=4/10) in Myelodysplastic
                      Syndrome cases, no (likely) pathogenic variants were
                      identified in the sarcoma and lymphoma group.In summary, our
                      data shows high checklist sensitivity, particular to
                      identify childhood cancer predisposition syndromes.
                      Nevertheless, the here employed checklist also missed $29\%$
                      of children with a cancer predisposition, highlighting the
                      drawbacks of sole clinical evaluation and underlining the
                      need for routine germline sequencing in pediatric oncology.},
      keywords     = {Pediatric cancer (Other) / Trio-Sequencing (Other) /
                      clinical checklists (Other) / genetic testing (Other) /
                      germline cancer predisposition (Other)},
      cin          = {DD01},
      ddc          = {610},
      cid          = {I:(DE-He78)DD01-20160331},
      pnm          = {899 - ohne Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-899},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:37149759},
      doi          = {10.1016/j.gim.2023.100875},
      url          = {https://inrepo02.dkfz.de/record/275926},
}