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@ARTICLE{Achatz:300326,
      author       = {M. I. Achatz and A. Villani and A. A. Bertuch and G.
                      Bougeard and V. Y. Chang and A. S. Doria and B. Gallinger
                      and L. A. Godley and M. C. Greer and J. Kamihara and P. P.
                      Khincha and W. K. Kohlmann and C. P. Kratz and S. P.
                      MacFarland and L. D. Maese and K. N. Maxwell and S. G.
                      Mitchell and Y. Nakano and S. Pfister$^*$ and J. D.
                      Wasserman and E. R. Woodward and J. E. Garber and D. Malkin},
      title        = {{U}pdate on {C}ancer {S}creening {R}ecommendations for
                      {I}ndividuals with {L}i-{F}raumeni {S}yndrome.},
      journal      = {Clinical cancer research},
      volume       = {31},
      number       = {10},
      issn         = {1078-0432},
      address      = {Philadelphia, Pa. [u.a.]},
      publisher    = {AACR},
      reportid     = {DKFZ-2025-00772},
      pages        = {1831-1840},
      year         = {2025},
      note         = {2025 May 15;31(10):1831-1840 / Perspective},
      abstract     = {Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer
                      predisposition condition characterized by a high lifetime
                      risk for a wide spectrum of malignancies associated with
                      germline pathogenic/likely pathogenic (P/LP) variants in the
                      TP53 tumor suppressor gene. Secondary malignant neoplasms
                      are particularly common. Early cancer detection through
                      surveillance enables early intervention and leads to
                      improved clinical outcomes with reduced tumor-related
                      mortality and treatment-related morbidity. Since the 2017
                      publication of LFS tumor surveillance guidelines from the
                      inaugural AACR Childhood Cancer Predisposition Workshop,
                      understanding the genotype:phenotype relationships in LFS
                      have evolved, and adaptations of the guidelines have been
                      implemented in institutions worldwide. The 'Toronto
                      Protocol' remains the current standard for life-long
                      surveillance; however, as outlined in this Perspective,
                      modifications should be considered as to the use of certain
                      modalities to target organs in an age-dependent manner. The
                      Working Group's recommendations have also been extended to
                      include a more detailed outline for surveillance in the
                      adult TP53 P/LP variant carrier population based on the
                      recognition that early education of both practitioners and
                      patients on what to expect after the transition from
                      childhood/adolescence to young adulthood is important in
                      preparing them for changes in surveillance strategies. In
                      this perspective, we provide an up-to-date clinical overview
                      of LFS, and present our updated consensus tumor surveillance
                      recommendations from the 2023 AACR Childhood Cancer
                      Predisposition Workshop.},
      subtyp        = {Review Article},
      cin          = {B062 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)B062-20160331 / I:(DE-He78)HD01-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40072304},
      doi          = {10.1158/1078-0432.CCR-24-3301},
      url          = {https://inrepo02.dkfz.de/record/300326},
}