Article
The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.
Cancer letters - 8 Jan 2007
Achatz Maria Isabel Waddington, Olivier Magali, Le Calvez Florence, Martel-Planche Ghyslaine, Lopes Ademar, Rossi Benedito Mauro, Ashton-Prolla Patricia, Giugliani Roberto, Palmero Edenir Inez, Vargas Fernando Regla, Da Rocha José Claudio Casali, Vettore Andre Luiz, Hainaut Pierre
Abstract excerpt
A TP53 germline mutation, R337H, has been previously described in children from southern Brazil with adrenocortical tumours but no documented familial history of other cancers. Here, we have screened for TP53 mutation 45 Brazilian unrelated individuals with family histories fulfilling the clinical definitions of Li-Fraumeni (LFS) or Li-Fraumeni-like (LFL) syndromes. Mutations were found in 13 patients (28.9%),...
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