The Brazilian TP53 mutation (R337H) and sarcomas

Autoři: Sahlua Miguel Volc aff001;  Cíntia Regina Niederauer Ramos aff002;  Henrique de Campos Reis Galvão aff001;  Paula Silva Felicio aff002;  Aline Silva Coelho aff002;  Gustavo Noriz Berardineli aff003;  Natalia Campacci aff002;  Cristina da Silva Sabato aff003;  Lucas Faria Abrahao-Machado aff004;  Iara Viana Vidigal Santana aff004;  Nathalia Campanella aff002;  André van Helvoort Lengert aff002;  Daniel Onofre Vidal aff002;  Rui Manuel Reis aff002;  Caio F. Dantas aff008;  Robson C. Coelho aff008;  Erica Boldrini aff005;  Sergio Vicente Serrano aff008;  Edenir Inêz Palmero aff002
Působiště autorů: Oncogenetics Department, Barretos Cancer Hospital, Barretos, São Paulo, Brazil aff001;  Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, São Paulo, Brazil aff002;  Center of Molecular Diagnosis, Barretos Cancer Hospital, Barretos, São Paulo, Brazil aff003;  Pathology Department, Barretos Cancer Hospital, Barretos, São Paulo, Brazil aff004;  Barretos Children's Cancer Hospital, Barretos, São Paulo, Brazil aff005;  Life and Health Sciences Research Institute (ICVS), Health Sciences School, University of Minho, Braga, Portugal aff006;  ICVS/3B's-PT Government Associate Laboratory, Braga/Guimarães, Portugal aff007;  Clinical Oncology Department, Barretos Cancer Hospital, Barretos, São Paulo, Brazil aff008;  Barretos School of Health Sciences, Dr. Paulo Prata-FACISB, São Paulo, Brazil aff009
Vyšlo v časopise: PLoS ONE 15(1)
Kategorie: Research Article
doi: 10.1371/journal.pone.0227260


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.

Klíčová slova:

Brazil – Breast cancer – Colorectal cancer – Lung and intrathoracic tumors – Mutation databases – Point mutation – Sarcomas – Leiomyosarcoma


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2020 Číslo 1