High Prevalence of the c.1546delC Germline Mutation in MEN1 Pancreatic Neuroendocrine Tumors Abstract #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 ENETS conference 2017 (2017)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Alberto Carmona-Bayonas
Keywords: MEN1 genetics

To read results and conclusion, please login ...

Further abstracts you may be interested in

#861 Targeted Next Generation Sequencing in the Screening for Familial Neuroendocrine Tumor Syndromes: A Tool for Personalized Medicine
Introduction: Multiple syndromes are described as conferring susceptibility to NETs; MEN1 & 2, NF1, familial PGL 1-5, TSC, VHL and germline mutations in the HIF2A, MAX, or TMEM127. Genetic testing covering these diagnoses may be extensively resource-demanding using traditional techniques due to the large extent of these loci.
Conference: 11th Annual ENETS Conference 2014 (2014)
Category: Biomarkers
Presenting Author: Joakim Crona
#2283 Ultra-Deep Targeted Resequencing Reveals Recurrent DAXX and CYFIP2 Mutations and Implicates Novel Pathways in Pancreatic Neuroendocrine Tumors
Introduction: Recent studies in pancreatic neuroendocrine tumors have identified mutations in DAXX/ATRX, MEN1, and genes involved in the phosphoinositide-3-kinase/Akt/mammalian target of rapamycin (PI3K-Akt-mTOR) pathway. However, these studies focused on abundant mutations.
Conference: 15th Annual ENETS conference 2018 (2018)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Timon Vandamme
#1523 Multiregion Analysis Reveal Evolutionary Patterns and a Chromosomal Instability Signature in Pancreatic Neuroendocrine Tumours
Introduction: Pancreatic neuroendocrine tumors (PNETs) are potentially lethal diseases that show variable degrees of proliferation and invasiveness. Although genetic subgroups have been suggested to give prognostic information the impact of clonal evolution to the development and outcome of PNETs remains unexplored.
Conference: 13th Annual ENETS conference 2016 (2016)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Joakim Crona
#2936 Mutational Landscape of 109 High-Grade Gastroenteropancreatic Neuroendocrine Neoplasms G3
Introduction: Gastroenteropancreatic (GEP) neuroendocrine neoplasms (NEN) G3 are rare with a poor outcome. Molecular data for GEP NEN G3 is limited and the 2019 WHO classification is based on morphology and proliferation rate.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: MSc Andreas Venizelos
#1438 An Unusual Phenotype of Multiple Endocrine Neoplasia Type 1 with a Small Intestine Neuroendocrine Tumor Associated with Large Deletion of the MEN1 Gene
Introduction: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited tumor syndrome that is caused by germline mutations in the Menin suppressor gene on chromosome 11q13. Small intestine neuroendocrine neoplasias (SI-NEN) are currently not considered to be part of the phenotype of the MEN1-syndrome.
Conference: 13th Annual ENETS conference 2016 (2016)
Category: Clinical cases/reports
Presenting Author: MD Jerena Manoharan