Syndrome de Li-Fraumeni
Symptômes
Gestion de la maladie
Gènes analysés
Bibliographie
de Andrade KC, Khincha PP, Hatton JN, et al. Cancer incidence, patterns, and genotype-phenotype associations in individuals with pathogenic or likely pathogenic germline TP53 variants: an observational cohort study. Lancet Oncol. 2021 Dec;22(12):1787-1798.
Kennedy MC, Lowe SW. Mutant p53: it's not all one and the same. Cell Death Differ. 2022 May;29(5):983-987.
Schneider K, Zelley K, Nichols KE, et al. Li-Fraumeni Syndrome. 1999 Jan 19 [updated 2019 Nov 21]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.
Vieira IA, Andreis TF, Fernandes BV, et al. Prevalence of the Brazilian TP53 Founder c.1010G>A (p.Arg337His) in Lung Adenocarcinoma: Is Genotyping Warranted in All Brazilian Patients? Front Genet. 2021 Feb 2;12:606537.
Front Genet.
Xu J, Qian J, Hu Y, et al. Heterogeneity of Li-Fraumeni syndrome links to unequal gain-of-function effects of p53 mutations. Sci Rep. 2014 Feb 27;4:4223.