| Texto completo | |
| Autor(es): |
da Silva Feitosa, Jose Antonio
;
das Chagas, Pablo Ferreira
;
de Sousa, Graziella Ribeiro
;
de Paula Queiroz, Rosane Gomes
;
Veiga Cruzeiro, Gustavo Alencastro
;
Tone, Luiz Gonzaga
;
Borges, Kleiton Silva
;
Valera, Elvis Terci
Número total de Autores: 8
|
| Tipo de documento: | Artigo Científico |
| Fonte: | MOLECULAR BIOLOGY REPORTS; v. 47, n. 8, p. 5-pg., 2020-07-15. |
| Resumo | |
TP53p.R337H germline mutation is highly prevalent in the Southern region of Brazil. We sought to investigateTP53p.R337H mutation in pediatric tumor samples from a population settled in a geographic area of high prevalence for this variant. Mutation assessment and genetic counseling for carriers/relatives were provided. 6/57 tumor samples were heterozygous forTP53p.R337H. As expected, a high frequency was observed within adrenocortical tumors (3/3) and choroid plexus carcinomas (2/2). Interestingly, theTP53R337H mutation was found in one case of pediatric rhabdomyosarcoma with Li-Fraumeni pedigree. Our finding expands the spectrum of childhood cancer associated with this germline mutation. (AU) | |
| Processo FAPESP: | 14/20341-0 - Interação entre alvos terapêuticos emergentes e vias de desenvolvimento associadas à tumorigênese: ênfase em neoplasias da criança e do adolescente |
| Beneficiário: | Luiz Gonzaga Tone |
| Modalidade de apoio: | Auxílio à Pesquisa - Temático |