| Texto completo | |
| Autor(es): |
Riechelmann, Rachel P.
;
Soares, Diogo C.
;
Dias, Carla
;
Carraro, Dirce M.
;
Torrezan, Giovana
Número total de Autores: 5
|
| Tipo de documento: | Artigo Científico |
| Fonte: | ECANCERMEDICALSCIENCE; v. 16, p. 5-pg., 2022-12-08. |
| Resumo | |
Studies have demonstrated that up to 17% of patients with pancreatic neuroendocrine tumours (pNETs) present pathogenic germline variants (PGVs) in several different genes, irrespective of family cancer history. Li-Fraumeni syndrome (LFS) is an autosomal domi-nant cancer predisposition syndrome related to PGVs in the TP53 gene. A previous case of a pNET associated with LFS (c.1009C > T, p.R337C) has been reported. Here we report the first case of a patient with pNET and TP53 p.R337H and XAF1 p.E134* germline variants, expanding the knowledge of LFS and germline mutations in neuroendocrine tumours. (AU) | |
| Processo FAPESP: | 14/50943-1 - INCT 2014: de Oncogenômica e Inovação Terapêutica |
| Beneficiário: | Dirce Maria Carraro |
| Modalidade de apoio: | Auxílio à Pesquisa - Temático |
| Processo FAPESP: | 18/06269-5 - Utilização de abordagens genômicas combinadas para investigar as causas genéticas de tumores raros em crianças, adolescentes e adultos jovens |
| Beneficiário: | Giovana Tardin Torrezan |
| Modalidade de apoio: | Auxílio à Pesquisa - Regular |