Portal de investigación
Li-Fraumeni syndrome heterogeneity.
Autores de IIS La Fe
Participantes ajenos a IIS La Fe
- Juan A
- Torres B
Grupos
Abstract
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.
Datos de la publicación
- ISSN/ISSNe:
- 1699-048X, 1699-3055
- Tipo:
- Review
- Páginas:
- 978-988
- PubMed:
- 31691207
- Factor de Impacto:
- 0,902 SCImago ℠
- Cuartil:
- Q2 SCImago ℠
Clinical & Translational Oncology SPRINGER INT PUBL AG
Citas Recibidas en Web of Science: 29
Documentos
- No hay documentos
Filiaciones
Keywords
- Epigenome, Genotype, Li–Fraumeni syndrome, Pediatrics, Phenotype
Campos de Estudio
Cita
Gargallo P,Yáñez Y,Segura V,Juan A,Torres B,Balaguer J,Oltra S,Castel V,Cañete A. Li-Fraumeni syndrome heterogeneity. Clin. Transl. Oncol. 2020. 22(7):p. 978-988. IF:3,405. (3).