Li-Fraumeni-associated pancreatic neuroendocrine tumour and XAF1 p.Glu134Ter risk modifier variant

Autor(es)

Riechelmann, Rachel P. ; Soares, Diogo C. ; Dias, Carla ; Carraro, Dirce M. ; Torrezan, Giovana

• 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