The Brazilian TP53 mutation (R337H) and sarcomas.

• Main Authors: Sahlua Miguel Volc, Cíntia Regina Niederauer Ramos, Henrique de Campos Reis Galvão, Paula Silva Felicio, Aline Silva Coelho, Gustavo Noriz Berardineli, Natalia Campacci, Cristina da Silva Sabato, Lucas Faria Abrahao-Machado, Iara Viana Vidigal Santana, Nathalia Campanella, André van Helvoort Lengert, Daniel Onofre Vidal, Rui Manuel Reis, Caio F Dantas, Robson C Coelho, Erica Boldrini, Sergio Vicente Serrano, Edenir Inêz Palmero
• Format: Article
• Language: English
• Published: Public Library of Science (PLoS) 2020-01-01
• Series: PLoS ONE
• Online Access: https://doi.org/10.1371/journal.pone.0227260
• ISSN: 1932-6203

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.