RESUMEN
Clinical variability is commonly seen in Li-Fraumeni syndrome. Phenotypic heterogeneity is present among different families affected by the same pathogenic variant in TP53 gene and among members of the same family. However, causes of this huge clinical spectrum have not been studied in depth. TP53 type mutation, polymorphic variants in TP53 gene or in TP53-related genes, copy number variations in particular regions, and/or epigenetic deregulation of TP53 expression might be responsible for clinical heterogeneity. In this review, recent advances in the understanding of genetic and epigenetic aspects influencing Li-Fraumeni phenotype are discussed.
Asunto(s)
Síndrome de Li-Fraumeni/genética , Síndrome de Li-Fraumeni/fisiopatología , Proteína p53 Supresora de Tumor/genética , Anticipación Genética , Variaciones en el Número de Copia de ADN , Epigénesis Genética , Interacción Gen-Ambiente , Humanos , Mutación , Estrés Oxidativo , Fenotipo , Polimorfismo Genético , Proteínas Proto-Oncogénicas c-mdm2/genética , Telómero/metabolismoRESUMEN
INTRODUCTION: The information offered by the new genomic and proteomic techniques will play a central role in our knowledge of cancer; but it is limited by the lack of available tissue samples. Cancer in children is a sum of infrequent diseases, so tumor banks are support tools for translational research, providing access to a sufficiently large series of samples, which would minimize the asymmetric effect of the diverse origin. MATERIAL AND METHODS: From 2003 a Molecular Pathology Network in Pediatric Solid Tumors Netwoks exists in Spain, and we are a part of it. Our aim was to create a pediatric tumor bank program and consensus documents about its use. RESULTS: Standard Operating Procedures for collection and transport of samples have been created. CONCLUSIONS: Thinking about the fast progress in Molecular Biology and the low frequency in pediatric tumors, it is vital to consider the importance of a bio bank.