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@ARTICLE{Chiu:140749,
      author       = {Chiu, Celine and Loth, Stefanie and Kuhlen, Michaela and
                      Ginzel, Sebastian and Schaper, Jörg and Rosenbaum, Thorsten
                      and Pietsch, Torsten and Borkhardt, Arndt and Hoell, Jessica
                      I},
      title        = {{M}utated {SON} putatively causes a cancer syndrome
                      comprising high-risk medulloblastoma combined with
                      café-au-lait spots.},
      journal      = {Familial cancer},
      volume       = {18},
      number       = {3},
      issn         = {1389-9600},
      address      = {Dordrecht [u.a.]},
      publisher    = {Springer Science + Business Media B.V},
      reportid     = {DZNE-2020-07071},
      pages        = {353-358},
      year         = {2019},
      abstract     = {Medulloblastoma is the most frequent malignant brain tumor
                      in childhood. This highly malignant neoplasm occurs usually
                      before 10 years of age and more frequently in boys. The
                      5-year event-free survival rate for high-risk
                      medulloblastoma is low at $62\%$ despite a multimodal
                      therapy including surgical resection, radiation therapy and
                      chemotherapy. We report the case of a boy, who was born to
                      consanguineous parents. Prominently, he had multiple
                      café-au-lait spots. At the age of 3 years he was diagnosed
                      with a high-risk metastatic medulloblastoma. The patient
                      died only 11 months after diagnosis of a fulminant relapse
                      presenting as meningeal and spinal dissemination.
                      Whole-exome sequencing of germline DNA was employed to
                      detect the underlying mutation for this putative cancer
                      syndrome presenting with the combination of medulloblastoma
                      and skin alterations. After screening all possible
                      homozygous gene SNVs, we identified a mutation of SON, an
                      essential protein in cell cycle regulation and cell
                      proliferation, as the most likely genetic cause.},
      keywords     = {Cafe-au-Lait Spots: genetics / Cerebellar Neoplasms:
                      genetics / Child, Preschool / Consanguinity / DNA-Binding
                      Proteins: genetics / Fatal Outcome / Humans / Male /
                      Medulloblastoma: genetics / Minor Histocompatibility
                      Antigens: genetics / Pedigree / Point Mutation / Syndrome /
                      DNA-Binding Proteins (NLM Chemicals) / Minor
                      Histocompatibility Antigens (NLM Chemicals) / SON protein,
                      human (NLM Chemicals)},
      cin          = {Brainbank (Bonn)},
      ddc          = {610},
      cid          = {I:(DE-2719)1011009},
      pnm          = {345 - Population Studies and Genetics (POF3-345)},
      pid          = {G:(DE-HGF)POF3-345},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:30680470},
      doi          = {10.1007/s10689-019-00121-z},
      url          = {https://pub.dzne.de/record/140749},
}