Article
p53 signaling pathway polymorphisms, cancer risk and tumor phenotype in TP53 R337H mutation carriers.
Familial cancer - 1 Apr 2018
Macedo Gabriel S, Vieira Igor Araujo, Vianna Fernanda Salles Luiz, Alemar Barbara, Giacomazzi Juliana, Brandalize Ana Paula Carneiro, Caleffi Maira, Volc Sahlua Miguel, de Campos Reis Galvão Henrique, Palmero Edenir Inez, Achatz Maria Isabel, Ashton-Prolla Patricia
Abstract excerpt
Li-Fraumeni and Li-Fraumeni-like syndrome (LFS/LFL) are clinically heterogeneous cancer predisposition syndromes characterized by diagnosis of early-onset and often multiple cancers with variable tumor patterns and incomplete penetrance. To date, the genetic modifiers described in LFS/LFL have been shown to map to either TP53 or its main negative regulator, MDM2. Additionally, all studies were focused on families...
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