Journal Article (Review Article)

DKFZ-2025-00772

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Update on Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome.

Achatz, M. I. ; Villani, A. ; Bertuch, A. A. ; Bougeard, G. ; Chang, V. Y. ; Doria, A. S. ; Gallinger, B. ; Godley, L. A. ; Greer, M. C. ; Kamihara, J. ; Khincha, P. P. ; Kohlmann, W. K. ; Kratz, C. P. ; MacFarland, S. P. ; Maese, L. D. ; Maxwell, K. N. ; Mitchell, S. G. ; Nakano, Y. ; Pfister, S.DKFZ* ; Wasserman, J. D. ; Woodward, E. R. ; Garber, J. E. ; Malkin, D.

2025
AACR Philadelphia, Pa. [u.a.]

This record in other databases:  

Please use a persistent id in citations: doi:10.1158/1078-0432.CCR-24-3301

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.

Note: 2025 May 15;31(10):1831-1840 / Perspective

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Contributing Institute(s):

1. B062 Pädiatrische Neuroonkologie (B062)
2. DKTK HD zentral (HD01)

Research Program(s):

1. 312 - Funktionelle und strukturelle Genomforschung (POF4-312) (POF4-312)

Appears in the scientific report 2025

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Database coverage:
; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Essential Science Indicators ; IF >= 10 ; JCR ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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