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:
https://doi.org/10.1371/journal.pone.0227260
Souhrn
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
Zdroje
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