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@ARTICLE{Dutzmann:144822,
      author       = {C. M. Dutzmann and J. Vogel and C. P. Kratz and K. W.
                      Pajtler$^*$ and S. M. Pfister$^*$ and B. B. Dörgeloh},
      title        = {[{U}pdate on {L}i-{F}raumeni syndrome].},
      journal      = {Der Pathologe},
      volume       = {40},
      number       = {6},
      issn         = {1432-1963},
      address      = {New York},
      publisher    = {Springer},
      reportid     = {DKFZ-2019-02247},
      pages        = {592-599},
      year         = {2019},
      abstract     = {The Li-Fraumeni syndrome (LFS, online Mendelian inheritance
                      in man, OMIM #151623) is considered to be one of the
                      currently known most aggressive cancer predisposition
                      syndromes. The heterogeneous spectrum of tumors is dominated
                      by bone and soft tissue sarcomas, various brain tumors,
                      premenopausal breast cancer and adrenocortical carcinoma
                      (ACC). Even in childhood the cancer risk is very strongly
                      increased and it is not uncommon for people with LFS to
                      develop synchronous and metachronous tumors. Typical
                      histopathological findings and molecular genetic signatures
                      can help towards the diagnosis. Inheritance is autosomal
                      dominant and the penetrance appears to be more variable than
                      previously thought. The prevalence of LFS is approximately
                      1:5000 with a high interregional variance. The LFS is
                      caused by germline mutations in the TP53 gene coding for the
                      protein p53, an essential cellular transcription factor that
                      initiates antitumor responses to cellular stress, such as
                      DNA damage. In people with LFS, due to the loss of
                      functional p53, the protective mechanism of the cells is
                      weakened resulting in a significantly increased cancer
                      risk. In order to improve the survival of people with LFS,
                      structured tumor early recognition and surveillance
                      strategies are recommended; however, national and
                      international longitudinal observational studies are needed
                      to evaluate the cost-effort-benefit balance. For this
                      reason, the authors have established the LFS cancer
                      predisposition registry in which all patients with LFS and
                      other syndromes predisposing to cancer can be registered.
                      Detailed information can be found at
                      www.cancer-predisposition.org .},
      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:31511974},
      doi          = {10.1007/s00292-019-00657-y},
      url          = {https://inrepo02.dkfz.de/record/144822},
}