Article
The Brazilian TP53 mutation (R337H) and sarcomas.
PloS one - 1 Jan 2020
Volc Sahlua Miguel, Ramos Cíntia Regina Niederauer, Galvão Henrique de Campos Reis, Felicio Paula Silva, Coelho Aline Silva, Berardineli Gustavo Noriz, Campacci Natalia, Sabato Cristina da Silva, Abrahao-Machado Lucas Faria, Santana Iara Viana Vidigal, Campanella Nathalia, Lengert André van Helvoort, Vidal Daniel Onofre, Reis Rui Manuel, Dantas Caio F, Coelho Robson C, Boldrini Erica, Serrano Sergio Vicente, Palmero Edenir Inêz
Abstract excerpt
Sarcomas represent less than 1% of all solid neoplasms in adults and over 20% in children. Their etiology is unclear, but genetic susceptibility plays an important role in this scenario. Sarcoma is central in Li-Fraumeni Syndrome (LFS), a familial predisposition cancer syndrome. In Brazil, the high prevalence of p.Arg337His mutations in the TP53 gene brings about a unique condition: a cluster of LFS. In the...
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