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

Author(s)

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

• Document type: Journal article
• Source: ECANCERMEDICALSCIENCE; v. 16, p. 5-pg., 2022-12-08.

Abstract

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)

• FAPESP's process: 14/50943-1 - INCT 2014: on Oncogenomics and Therapeutic Inovations
• Grantee: Dirce Maria Carraro
• Support Opportunities: Research Projects - Thematic Grants
• FAPESP's process: 18/06269-5 - Combining genomic approaches to determine the genetics causes of rare cancers in children, adolescents and young adults
• Grantee: Giovana Tardin Torrezan
• Support Opportunities: Regular Research Grants