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.
Li-Fraumeni syndrome; Cancer; Pathogenic variants
Sánchez-Heras AB, Ramon y Cajal T, Pineda M, Aguirre E, Graña B, Chirivella I, et al. SEOM clinical guideline on heritable TP53-related cancer syndrome (2022). Clin Transl Oncol. 2023 Sep;25:2627–33.
Use this identifier for quote and/or link this documenthttps://hdl.handle.net/11351/10231
The following license files are associated with this item: