Li-Fraumeni syndrome heterogeneity

被引：28

作者：

Gargallo, P. ^{[1
]}

Yanez, Y. ^{[2
]}

Segura, V. ^{[2
]}

Juan, A. ^{[1
]}

Torres, B. ^{[1
]}

Balaguer, J. ^{[1
]}

Oltra, S. ^{[3
,4
]}

Castel, V. ^{[1
]}

Canete, A. ^{[1
]}

机构：

[1] La Fe Hosp, Pediat Oncol, Av Fernando Abril Martorell 106, Valencia 46026, Spain

[2] La Fe Hosp, Clin & Translat Oncol Res Grp, Valencia, Spain

[3] La Fe Hosp, Genet Unit, Valencia, Spain

[4] Univ Valencia, Genet Dept, Valencia, Spain

来源：

CLINICAL & TRANSLATIONAL ONCOLOGY | 2020年 / 22卷 / 07期

关键词：

Li-Fraumeni syndrome; Genotype; Phenotype; Epigenome; Pediatrics; TP53 MUTATION CARRIERS; GAIN-OF-FUNCTION; CANCER PREDISPOSITION; MUTANT P53; RELATIVE FREQUENCY; TELOMERE LENGTH; WIDE SPECTRUM; TUMOR ONSET; GERMLINE; FAMILIES;

D O I：

10.1007/s12094-019-02236-2

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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.

引用

页码：978 / 988

页数：11

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