Abstract library

239 results for "genetic mutation".
#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)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Timon Vandamme
#2920 Mutation Spectrums Analysis of Colorectal Adenocarcinoma and Neuroendocrine Neoplasm Based on Same Genetic Background to Reveal Tumorigenesis
Introduction: The tumorigenesis of neuroendocrine neoplasm (NEN) are still ambiguous. The therapies of NENs in colon or rectum refer to adenocarcinomas (AC) when tumor metastasis, but the response was unsatisfactory which inspired us to explore the mutation difference.
Conference: 17th Annual ENETS Conference (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Dr. Wen Cai
Authors: Cai W, Ge W, Wu D, Mao J, ...
#273 The Succinate Dehydrogenase Genetic Testing in Patients with Extra-adrenal Paragangliomas: The Portuguese Cancer Center (Lisboa) Experience
Introduction: Extra-adrenal paragangliomas (PGLs) occur as sporadic or familial entities, the latter mostly in association with germline mutations of the SDHB, SDHC or SDHD genes.
Conference: 8th Annual ENETS Conference (2011)
Category: Basic
Presenting Author: Rita Domingues
#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)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: MSc Andreas Venizelos
#838 Succinate Dehydrogenase Subunit B (SDHB) Immunohistochemistry Should Not Replace Clinical Genetic Testing for SDHx Mutations in Patients with Pheochromocytoma and Paraganglioma
Introduction: Mutations in any of the subunits of the succinate dehydrogenase (SDH) complex predispose to PCC/PGL. Knowing the germline mutation is important for surveillance for recurrence, metastatic disease or more primary tumors and for screening affected family members. Expression of SDHB protein by immunohistochemistry (IHC) has been proposed as a surrogate marker for SDHx mutation status, with absent or decreased expression of SDHB suggesting the presence of a germline SDHB mutation or disruption of the SDH complex by mutation in another subunit.
Conference: 11th Annual ENETS Conference (2014)
Category: Non digestive NETs (bronchial, MTC, pheochromocytoma)
Presenting Author: Lauren Fishbein
#2128 Epigenetic Changes in DAXX and/or ATRX Negative Pancreatic Neuro-Endocrine Tumors
Introduction: The most commonly mutated genes in Pancreatic Neuroendocrine Tumors (PanNETs) are MEN1, DAXX and ATRX, which encode for proteins involved in epigenetic regulation. DAXX/ATRX mutated PanNETs are globally hypomethylated and behave clinically in a more aggressive way. Tumor pathways associated with these changes are still unclear. We hypothesize that DAXX/ATRX and MEN1 mutations mediate PanNET progression via epigenetic dysregulation.
Conference: 15th Annual ENETS conference (2018)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Annunziata Di Domenico
#2982 Comprehensive Molecular Analysis Identifies Driver Mutations in Metastases of Sporadic Well-Differentiated Neuroendocrine Tumours of the Small Intestine
Introduction: Small intestinal neuroendocrine tumours (SI-NETs) represent a heterogenous group of tumours. The molecular mechanisms which contribute to progression of SI-NETs are poorly elucidated. They are considered to be molecularly distinct from neuroendocrine carcinomas (NECs), which share oncogenic pathways with adenocarcinomas.
Conference: 17th Annual ENETS Conference (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Drs Kris Samsom
#122 Molecular genetic findings in gastric carcinoid suggest possible neurofibromin/Ras pathway involvement in carcinoid pathogenesis
Introduction: The molecular pathogenesis of gastrointestinal carcinoid tumours is poorly understood. We have been undertaking molecular genetic investigations of a young woman with neurofibromatosis type 1 (NF1) in whom a gastric carcinoid tumor was detected following an episode of gastrointestinal bleeding. She was otherwise relatively mildly affected by NF1. In NF1, gastric carcinoids have been found previously only in patients with other predisposing factors, which were absent in this patient.
Conference: 7th Annual ENETS Conference (2010)
Category: Basic
Presenting Author: Dr Edward S Tobias
#1329 The MEN2B Due to de Novo Mutation M918T at Algiers
Introduction: The MEN2B, or Gorlin syndrome is a very rare disorder where there are a medullary cancer of thyroide associated with pheochromocytoma and other clinical signs such as a ganglion – neuromatose or a Marfan syndrome. The MEN2B belongs MEN2 are rare hereditary disease, transmitted as an autosomal dominant mutations linked to the RET proto-oncogene.
Conference: 13th Annual ENETS conference (2016)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Professor Chikouche Ammar
Authors: Chikouche A, ...
#1722 New MEN-1 Gene Mutation Implicated in Familiar MEN-1 Syndrome Onset
Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a rare genetic syndrome associated with an increased risk of developing parathyroid, pituitary and pancreatic neuroendocrine tumors. MEN1 has an autosomal dominant pattern of hereditability and it is usually related to mutations in menin coding gene
Conference: 14th Annual ENETS conference (2017)
Category: Clinical cases/reports
Presenting Author: MD Elisabetta Grego
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