Article
SEOM clinical guideline on heritable TP53-related cancer syndrome (2022).
Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico - 1 Sept 2023
Sánchez-Heras Ana Beatriz, Ramon Y Cajal Teresa, Pineda Marta, Aguirre Elena, Graña Begoña, Chirivella Isabel, Balmaña Judit, Brunet Joan
Abstract excerpt
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...
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