Article
Li-Fraumeni syndrome heterogeneity.
Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico - 1 Jul 2020
Gargallo P, Yáñez Y, Segura V, Juan A, Torres B, Balaguer J, Oltra S, Castel V, Cañete A
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.