PLoS ONE (Jan 2020)

The Brazilian TP53 mutation (R337H) and sarcomas.

  • 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

DOI
https://doi.org/10.1371/journal.pone.0227260
Journal volume & issue
Vol. 15, no. 1
p. e0227260

Abstract

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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.