Article
Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil.
Cancer - 15 Dec 2013
Giacomazzi Juliana, Selistre Simone G, Rossi Cristina, Alemar Barbara, Santos-Silva Patricia, Pereira Fernando S, Netto Cristina B, Cossio Silvia L, Roth Daniela E, Brunetto Algemir L, Zagonel-Oliveira Marcelo, Martel-Planche Ghyslaine, Goldim Jose R, Hainaut Pierre, Camey Suzi A, Ashton-Prolla Patricia
Abstract excerpt
BACKGROUND: Pediatric cancers are a feature in patients with Li-Fraumeni syndrome and its variant Li-Fraumeni-like syndrome (LFS/LFL). To the best of the authors' knowledge, TP53 germline mutations are currently the only molecular defect known to be associated with this disease. Recently, a specific germline mutation in this gene, p.R337H, has been reported at a high prevalence in Brazil. METHODS: The prevalence...
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