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@ARTICLE{Wagener:284384,
      author       = {R. Wagener$^*$ and D. Brandes and M. Jung and M. A. Huetzen
                      and A. K. Bergmann and S. Panier and D. Picard and U.
                      Fischer$^*$ and R. D. Jachimowicz and A. Borkhardt$^*$ and
                      T. Brozou},
      title        = {{O}ptical genome mapping identifies structural variants in
                      potentially new cancer predisposition candidate genes in
                      pediatric cancer patients.},
      journal      = {International journal of cancer},
      volume       = {154},
      number       = {4},
      issn         = {0020-7136},
      address      = {Bognor Regis},
      publisher    = {Wiley-Liss},
      reportid     = {DKFZ-2023-01978},
      pages        = {607-614},
      year         = {2024},
      note         = {2024 Feb 15;154(4):607-614},
      abstract     = {Genetic predisposition is one of the major risk factors for
                      pediatric cancer, with $~10\%$ of children being carriers of
                      a predisposing germline alteration. It is likely that this
                      is the tip of the iceberg and many children are
                      underdiagnosed, as most of the analysis focuses on single or
                      short nucleotide variants, not considering the full spectrum
                      of DNA alterations. Hence, we applied optical genome mapping
                      (OGM) to our cohort of 34 pediatric cancer patients to
                      perform an unbiased germline screening and analyze the
                      frequency of structural variants (SVs) and their impact on
                      cancer predisposition. All children were clinically highly
                      suspicious for germline alterations (concomitant conditions
                      or congenital anomalies, positive family cancer history,
                      particular cancer type, synchronous or metachronous tumors),
                      but whole exome sequencing (WES) had failed to detect
                      pathogenic variants in cancer predisposing genes. OGM
                      detected a median of 49 rare SVs (range 27-149) per patient.
                      By analysis of 18 patient-parent trios, we identified three
                      de novo SVs. Moreover, we discovered a likely pathogenic
                      deletion of exon 3 in the known cancer predisposition gene
                      BRCA2, and identified a duplication in RPA1, which might
                      represent a new cancer predisposition gene. We conclude that
                      optical genome mapping is a suitable tool for detecting
                      potentially predisposing SVs in addition to WES in pediatric
                      cancer patients.},
      keywords     = {cancer predisposition (Other) / optical genome mapping
                      (Other) / pediatric cancer (Other) / structural variants
                      (Other)},
      cin          = {ED01},
      ddc          = {610},
      cid          = {I:(DE-He78)ED01-20160331},
      pnm          = {899 - ohne Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-899},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:37776287},
      doi          = {10.1002/ijc.34721},
      url          = {https://inrepo02.dkfz.de/record/284384},
}