High Prevalence of the c.1546delC Germline Mutation in MEN1 Pancreatic Neuroendocrine Tumors

#1906

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease predisposing to pancreatic neuroendocrine neoplasms (NENs). Even though its genetics is relatively well known, specific phenotype-genotype correlations remain unproven at present. The Region of Murcia in southeast Spain is one of the areas with the highest incidence of MEN1

Aim(s): The characterization of germline mutations in the MEN1 gene in patients with pancreatic NENs

Materials and methods: Patients with pancreatic NENs treated between 1983-2015 at a single center were included (n=85). Family/personal history was collected. Germline DNA was analyzed from peripheral blood. MEN1 gene sequencing was carried out on exons and adjacent regions to identify mutations

Conference: 14th Annual ENETSConcerence (2017)

Presenting Author: Marín Zafra G

Authors: Marín Zafra G, Carmona-Bayonas A, Segura Luque P, Rodríguez González J, Tebar Massó J,

Keywords: MEN1 genetics,