Abstract library

105 results for "next generation sequencing".
#366 Next Generation Sequencing is a Cost Effective and Time Saving Method in Clinical Genetic Screening of Patients with Pheochromocytomas
Introduction: Pheochromocytomas are rare tumours arising from adrenal medulla. Recent findings show that about 30-40% of pheochromocytomas are caused by germline mutations in one of the ten hereto known susceptibility genes: SDHA, SDHB, SDHC, SDHD, SDHAF2, RET, VHL, NF1, TMEM127 and MAD. This list of genes is constantly growing. These ten genes together consist of 128 exons and a genetic screening test is both extensive time-consuming and expensive. We introduce utilizing Next generation sequencing as a fast and cost effective method.
Conference:
Category: Basic
Presenting Author: Mr. Joakim Crona
#2975 Next Generation Sequencing of Pancreatic Neuroendocrine Tumors in Russian Cohort
Introduction: The appearance of next generation sequencing (NGS), - a powerful high-performance method, allowed accumulation of a large amount of information concerning genetic and epigenetic patterns, however, the problem of matching clinical, histological picture with genetic structure in pNETs remains open.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Trials in Progress/Trials in Concept
Presenting Author: PhD Vladimir Trifanov
#2861 Targeted Next Generation Sequencing Analysis Reveals the Genetic Characteristics of Gastric Neuroendocrine Neoplasmas
Introduction: there are abundant information about the clinical therapy and pathological features of gastric neuroendocrine neoplasms (gNENs) but little about its genetic characteristics.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Chen Huang
#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
#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 (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Drs Kris Samsom
#2816 Germline Variants in Cancer Predisposing Genes in Young Adults with Neuroendocrine Tumors
Introduction: Advances in genomics have enabled the recognition of new cancer predisposing genes (CPG). There are few studies of CPG in neuroendocrine tumors (NET).
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Prof Rachel Riechelmann
#1892 Feasibility and Implication of Routine NGS Analysis in Neuroendocrine Carcinomas
Introduction: Neuroendocrine carcinomas (NECs) may arise from any organ system, exhibit various degree of differentiation and have Ki67 indices ranging from 21-100%. After first-line platin based chemotherapy, no standard treatment exists.
Conference: 14th Annual ENETS conference 2017 (2017)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Dr. Ulrich Knigge
#2205 Analysis of MET and RET Expression in Patients with Pancreatic Neuroendocrine Tumors Receiving Everolimus
Introduction: Target therapy has improved the outcome of neuroendocrine tumors (NETs), but little is known about the strategies to overcome the acquired resistance. MET is considered one of the putative mechanisms of resistance. RET is also rearranged in some other endocrine tumors (like thyroid).
Conference: 15th Annual ENETS conference 2018 (2018)
Category: Basic Science - Signaling pathways, receptors, biomarkers
Presenting Author: MD Chiara Alessandra Cella
Authors: Cella C A, Barberis M, Spad F, Pisa E, ...
Keywords: Everolimus, MET, RET
#2737 Identification of a Novel MAFA Missense Mutation Causing Familial Insulinomatosis
Introduction: Insulinomatosis is a rare pancreatic disease characterized by an adult-onset condition of recurrent hyperinsulinemic hypoglycemia caused by multiple insulin-secreting neuroendocrine tumors.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Epidemiology/Natural history/Prognosis - Registries, nationwide and regional surveys
Presenting Author: PD. Dr. Christian Fottner
#2965 Molecular Signature of Rectal Neuroendocrine Neoplasia
Introduction: Rectal neuroendocrine tumors are rare neuroendocrine neoplasias (NEN). Little is known about prevalence and type of somatostatin receptor subtypes (sstr) expression and somatic mutations in relation to long-term clinical outcome.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Dr. Nicole Unger
Authors: Unger N, Theurer S, Herold T, Weber F, ...