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@ARTICLE{Villani:124437,
      author       = {A. Villani and M. C. Greer and J. M. Kalish and A.
                      Nakagawara and K. L. Nathanson and K. Pajtler$^*$ and S.
                      Pfister$^*$ and M. F. Walsh and J. D. Wasserman and K.
                      Zelley and C. P. Kratz},
      title        = {{R}ecommendations for {C}ancer {S}urveillance in
                      {I}ndividuals with {RAS}opathies and {O}ther {R}are
                      {G}enetic {C}onditions with {I}ncreased {C}ancer {R}isk.},
      journal      = {Clinical cancer research},
      volume       = {23},
      number       = {12},
      issn         = {1557-3265},
      address      = {Philadelphia, Pa. [u.a.]},
      publisher    = {AACR},
      reportid     = {DKFZ-2017-01314},
      pages        = {e83 - e90},
      year         = {2017},
      abstract     = {In October 2016, the American Association for Cancer
                      Research held a meeting of international childhood cancer
                      predisposition syndrome experts to evaluate the current
                      knowledge of these syndromes and to propose consensus
                      surveillance recommendations. Herein, we summarize clinical
                      and genetic aspects of RASopathies and Sotos, Weaver,
                      Rubinstein-Taybi, Schinzel-Giedion, and NKX2-1 syndromes as
                      well as specific metabolic disorders known to be associated
                      with increased childhood cancer risk. In addition, the
                      expert panel reviewed whether sufficient data exist to make
                      a recommendation that all patients with these disorders be
                      offered cancer surveillance. For all syndromes, the panel
                      recommends increased awareness and prompt assessment of
                      clinical symptoms. Patients with Costello syndrome have the
                      highest cancer risk, and cancer surveillance should be
                      considered. Regular physical examinations and complete blood
                      counts can be performed in infants with Noonan syndrome if
                      specific PTPN11 or KRAS mutations are present, and in
                      patients with CBL syndrome. Also, the high brain tumor risk
                      in patients with L-2 hydroxyglutaric aciduria may warrant
                      regular screening with brain MRIs. For most syndromes,
                      surveillance may be needed for nonmalignant health problems.
                      Clin Cancer Res; 23(12); e83-e90. ©2017 AACRSee all
                      articles in the online-only CCR Pediatric Oncology Series.},
      subtyp        = {Review Article},
      cin          = {B062 / L101},
      ddc          = {610},
      cid          = {I:(DE-He78)B062-20160331 / I:(DE-He78)L101-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:28620009},
      doi          = {10.1158/1078-0432.CCR-17-0631},
      url          = {https://inrepo02.dkfz.de/record/124437},
}