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@ARTICLE{Hansford:289300,
      author       = {J. R. Hansford and A. Das and R. B. McGee and Y. Nakano and
                      J. Brzezinski and S. R. Scollon and S. P. Rednam and J.
                      Schienda and O. Michaeli and S. Y. Kim and M. C. Greer and
                      R. Weksberg and D. R. Stewart and W. D. Foulkes and U.
                      Tabori and K. Pajtler$^*$ and S. Pfister$^*$ and G. M.
                      Brodeur and J. Kamihara},
      title        = {{U}pdate on cancer predisposition syndromes and
                      surveillance guidelines for childhood brain tumors.},
      journal      = {Clinical cancer research},
      volume       = {30},
      number       = {11},
      issn         = {1078-0432},
      address      = {Philadelphia, Pa. [u.a.]},
      publisher    = {AACR},
      reportid     = {DKFZ-2024-00695},
      pages        = {2342-2350},
      year         = {2024},
      note         = {2024 Jun 3;30(11):2342-2350},
      abstract     = {Tumors of the central nervous system (CNS) comprise the
                      second most common group of neoplasms in childhood. The
                      incidence of germline predisposition among children with
                      brain tumors continues to grow as our knowledge on disease
                      aetiology increases. Some children with brain tumors may
                      present with non-malignant phenotypic features of specific
                      syndromes (e.g. nevoid basal cell carcinoma syndrome,
                      neurofibromatosis type 1 and type 2, DICER1 syndrome, and
                      constitutional mismatch repair deficiency), while others may
                      present with a strong family history of cancer (e.g.
                      Li-Fraumeni syndrome), or with a rare tumor commonly found
                      in the context of germline predisposition (e.g. rhabdoid
                      tumor predisposition syndrome). Approximately $50\%$ of
                      patients with a brain tumor may be the first in a family
                      identified to have a predisposition. The past decade has
                      witnessed a rapid expansion in our molecular understanding
                      of CNS tumors. A significant proportion of CNS tumors are
                      now well characterized and known to harbor specific genetic
                      changes that can be found in the germline. Additional novel
                      predisposition syndromes are also being described.
                      Identification of these germline syndromes in individual
                      patients has not only enabled cascade testing of family
                      members and early tumor surveillance but increasingly has
                      also impacted cancer management in those patients.
                      Therefore, the AACR Cancer Predisposition Working Group
                      chose to highlight these advances in CNS tumor
                      predisposition and summarize and/or generate surveillance
                      recommendations for established and more recently emerging
                      pediatric brain tumor predisposition syndromes.},
      subtyp        = {Review Article},
      cin          = {B062},
      ddc          = {610},
      cid          = {I:(DE-He78)B062-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:38573059},
      doi          = {10.1158/1078-0432.CCR-23-4033},
      url          = {https://inrepo02.dkfz.de/record/289300},
}