The Brazilian TP53 mutation (R337H) and sarcomas

PLoS One. 2020 Jan 24;15(1):e0227260. doi: 10.1371/journal.pone.0227260. eCollection 2020.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Brazil / epidemiology
  • Female
  • Founder Effect
  • Genetic Counseling
  • Genetic Predisposition to Disease*
  • Germ-Line Mutation
  • Humans
  • Li-Fraumeni Syndrome / diagnosis
  • Li-Fraumeni Syndrome / epidemiology
  • Li-Fraumeni Syndrome / genetics*
  • Li-Fraumeni Syndrome / pathology
  • Male
  • Middle Aged
  • Prevalence
  • Sarcoma / diagnosis
  • Sarcoma / epidemiology
  • Sarcoma / genetics*
  • Sarcoma / pathology
  • Tumor Suppressor Protein p53 / genetics*
  • Young Adult

Substances

  • TP53 protein, human
  • Tumor Suppressor Protein p53

Grants and funding

This work was supported by the Barretos Cancer Hospital. EIP and RMR are recipients of CNPq Productivity Grants. There was no additional external funding received for this study.