Abstract library

78 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
#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)
Category: Biomarkers
Presenting Author: Joakim Crona
#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)
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)
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
#440 The First Neuroendocrine Tumor Methylome Using Methylation-Specific Immunoprecipitation Followed by Second Generation Sequencing – MeDIP-seq
Introduction: Recently, the first cancer methylomes have been created which identified differential methylation at CpG island-shores (2kb upstream of CpG islands) to be of particular importance in the tumourigenic process.
Conference: 9th Annual ENETS Conference (2012)
Category: Basic
Presenting Author: Dr Christina Thirlwell
Authors: Thirlwell C, Sasmaz S, Dibra H, Feber A, ...
#2239 pNET G3 Tumor Stabilization Achieved by an Individualized Molecular Therapy Based on Tumor Genome Sequencing Results
Introduction: High-grade pancreatic neuroendocrine neoplasms (pNENs) constitute a heterogeneous group of malignant neoplasms, encompassing neuroendocrine tumors (NET) G3 and carcinomas (NEC). Due to poor data on NET G3 tumors no standard therapy in metastatic disease could be established so far. Tumor genome sequencing might help to better profile NET G3 tumors and could provide novel opportunities for individualized and thereby successful patient specific treatments.
Conference: 15th Annual ENETS conference (2018)
Category: Case reports
Presenting Author: Martina Steurer
#775 Whole Exome Sequence Of BON-1 And QGP-1, Two Human Pancreatic Neuroendocrine Tumor Cell Lines, Reveals Homozygous Loss Of Function Mutations In TP53, HRNR and CYFIP2.
Introduction: The human BON-1 and QGP-1 cell lines are two models often used in pancreatic neuroendocrine tumor (PNET) research. Data on protein-changing mutations in these cell lines is lacking.
Conference: 10th Annual ENETS Conference (2013)
Category: Non digestive NETs (bronchial, MTC, pheochromocytoma)
Presenting Author: Timon Vandamme
#1253 A Novel Hereditary Pancreatic Neuroendocrine Tumor Syndrome Associated with Biallelic Inactivation of the Glucagon Receptor
Introduction: Hereditary pancreatic neuroendocrine tumors (PanNETs) are associated with 4 known autosomal dominant syndromes including MEN1, vHL disease, NF1, and TS. Glucagon receptor (GCGR) inactivation in human (Mahvash disease) has been associated with asymptomatic hyperglucagonemia, α-cell hyperplasia, and PanNET, and may represent a new hereditary syndrome.
Conference: 13th Annual ENETS conference (2016)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Dr. Laura Tang
Authors: Tang L, Yu R, ...
#1498 Safety and Efficacy of Pasireotide LAR (PAS) in Patients with Advanced Neuroendocrine Tumors (NET): Findings of a Phase I, Multi-center, Open-label, Dose-escalation Study
Introduction: PAS, a next generation SSA, is investigated to determine the maximum tolerated dose (MTD) in pts with advanced NET.
Conference: 13th Annual ENETS conference (2016)
Category: Medical treatment - SMS analogues, interferon
Presenting Author: MD James Yao
Authors: Yao J, Chan J, Mita A, Kundu M, ...
Keywords: Pasireotide, MTD
#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
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