TY  - JOUR
AU  - Achatz, Maria Isabel
AU  - Villani, Anita
AU  - Bertuch, Alison A
AU  - Bougeard, Gaëlle
AU  - Chang, Vivian Y
AU  - Doria, Andrea S
AU  - Gallinger, Bailey
AU  - Godley, Lucy A
AU  - Greer, Mary-Louise C
AU  - Kamihara, Junne
AU  - Khincha, Payal P
AU  - Kohlmann, Wendy K
AU  - Kratz, Christian P
AU  - MacFarland, Suzanne P
AU  - Maese, Luke D
AU  - Maxwell, Kara N
AU  - Mitchell, Sarah G
AU  - Nakano, Yoshiko
AU  - Pfister, Stefan
AU  - Wasserman, Jonathan D
AU  - Woodward, Emma R
AU  - Garber, Judy E
AU  - Malkin, David
TI  - Update on Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome.
JO  - Clinical cancer research
VL  - 31
IS  - 10
SN  - 1078-0432
CY  - Philadelphia, Pa. [u.a.]
PB  - AACR
M1  - DKFZ-2025-00772
SP  - 1831-1840
PY  - 2025
N1  - 2025 May 15;31(10):1831-1840 / Perspective
AB  - 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.
LB  - PUB:(DE-HGF)16
C6  - pmid:40072304
DO  - DOI:10.1158/1078-0432.CCR-24-3301
UR  - https://inrepo02.dkfz.de/record/300326
ER  -