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Article

A novel likely pathogenetic variant p.(Cys235Arg) of the MEN1 gene in multiple endocrine neoplasia type 1 with multifocal glucagonomas.

Journal of endocrinological investigation - 1 Jul 2024

Smirne C, Giacomini G M, Berton A M, Pasini B, Mercalli F, Prodam F, Caputo M, Brosens L A A, Mollero E L M, Pitino R, Pirisi M, Aimaretti G, Ghigo E

Abstract excerpt

PURPOSE: Multiple endocrine neoplasia type 1 (MEN1) is a hereditary endocrine syndrome caused by pathogenic variants in MEN1 tumor suppressor gene. Diagnosis is commonly based on clinical criteria and confirmed by genetic testing. The objective of the present study was to report on a MEN1 case characterized by multiple pancreatic glucagonomas, with particular concern on the possible predisposing genetic defects....

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Multiple Endocrine Neoplasia Type 1
Mutation
Pancreatic Neoplasms
Pedigree
Proto-Oncogene Proteins

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PMID: 38294658
DOI: 10.1007/s40618-023-02287-x
PMCID: PMC11196359

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