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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
PloS one, 01/2020, Volume: 15, Issue: 1Journal Article
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 present work, we studied 502 sarcoma patients not selected by age or family history in an attempt to assess the impact of the so-called "Brazilian germline TP53 mutation" (p.Arg337His) on this tumor type. We found that 8% of patients are carriers, with leiomyosarcoma being the main histologic type of sarcoma, corresponding to 52.5% of the patients with the mutated TP53 gene. These findings emphasize the importance of genetic counseling and can better guide the management of sarcoma patients.
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