SEOM clinical guideline on heritable TP53-related cancer syndrome (2022)
Sánchez-Heras, Ana Beatriz (Hospital General Universitario de Elche)
Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau)
Pineda, Marta (Hospital Universitari de Bellvitge)
Aguirre, Elena (Hospital Quironsalud)
Graña, Begoña (University Hospital A Coruña)
Chirivella, Isabel (Universitat de València)
Balmaña Gelpí, Judith (Hospital Universitari Vall d'Hebron)
Brunet Vidal, Joan (Institut d'Investigació Biomédica de Girona)
Universitat Autònoma de Barcelona

Date:	2023
Abstract:	Li-Fraumeni syndrome is caused by heterozygous germline pathogenic variants in the TP53 gene. It involves a high risk of a variety of malignant tumors in childhood and adulthood, the main ones being premenopausal breast cancer, soft tissue sarcomas and osteosarcomas, central nervous system tumors, and adrenocortical carcinomas. The variability of the associated clinical manifestations, which do not always fit the classic criteria of Li-Fraumeni syndrome, has led the concept of SLF to extend to a more overarching cancer predisposition syndrome, termed hereditable TP53-related cancer syndrome (hTP53rc). However, prospective studies are needed to assess genotype-phenotype characteristics, as well as to evaluate and validate risk-adjusted recommendations. This guideline aims to establish the basis for interpreting pathogenic variants in the TP53 gene and provide recommendations for effective screening and prevention of associated cancers in carrier individuals.
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Cancer ; Li-Fraumeni syndrome ; Pathogenic variants ; TP53
Published in:	Clinical & translational oncology, Vol. 25 Núm. 9 (september 2023) , p. 2627-2633, ISSN 1699-3055

DOI: 10.1007/s12094-023-03202-9
PMID: 37133731

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