Abstract library

57 results for "exome sequencing".
#1461 Whole Exome Sequencing of Three Families with Small Intestine Neuroendocrine Tumors
Introduction: Small intestine neuroendocrine tumors (siNETs) are the most prevalent small intestine neoplasms. However, familial siNETs are rarely described.
Conference: 13th Annual ENETS conference (2016)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Matthias Beyens
#2293 Genomic and Transcriptomic Characterization of Aggressive Well Differentiated Pancreatic Neuroendocrine Tumors (WD PanNET)
Introduction: While the genomic and transcriptomic landscape of low proliferating PanNET have been well studied, pathways driving aggressive WD PanNET are still unclear.
Conference: 15th Annual ENETS conference (2018)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Dr Jerome Cros
#2196 The Neuroendocrine Phenotype, Genomic Profile, and Therapeutic Sensitivity of GEPNET Cell Lines
Introduction: Patient tumour-derived cell lines have been widely used for studying the molecular mechanisms of tumours and their response to therapy. The establishment of cell lines from gastro-entero-pancreatic neuroendocrine tumours (GEPNETs) has proved difficult, but despite the challenges a limited amount of cell lines now exists.
Conference: 15th Annual ENETS conference (2018)
Category: Basic Science - In vitro models, tumor growth, CTCs
Presenting Author: Tobias Hofving
#658 Somatic Mutations in H-RAS in Sporadic Pheochromocytoma and Paraganglioma Identified by Exome Sequencing.
Introduction: Up to 60% of pheochromocytoma (PCC) and paraganglioma (PGL) are associated with mutations in established PCC and PGL susceptibility loci. A majority of unexplained cases are characterized by an increased activity of the RAS/RAF/ERK signalling pathway. Mutations in RAS subtypes H, K and N are common in human cancers, however, previous studies have been inconsistent regarding the mutational status of RAS in PCC and PGL.
Conference: 10th Annual ENETS Conference (2013)
Category: Non digestive NETs (bronchial, MTC, pheochromocytoma)
Presenting Author: Joakim Crona
#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
#977 Inducing, Understanding and Overcoming Resistance to Everolimus in Pancreatic Neuroendocrine Tumors
Introduction: Treatment with the mTOR-inhibitor everolimus improves progression-free survival in advanced pancreatic neuroendocrine tumors (PNETs). However, adaptive resistance to mTOR inhibition is described.
Conference: 11th Annual ENETS Conference (2014)
Category: Basic Science - mTOR and other pathways, signalling, receptors
Presenting Author: Timon Vandamme
Keywords: everolimus
#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
#1442 Somatic Variant Detection in Circulating Cell-Free Plasma DNA of Patients with Pancreatic Neuroendocrine Tumours
Introduction: Cell-free DNA (cfDNA) as a type of “liquid biopsy” represents an attractive alternative to tissue sampling for detecting tumour-specific changes (circulating tumour DNA; ctDNA).
Conference: 13th Annual ENETS conference (2016)
Category: Biomarkers
Presenting Author: Dr Christodoulos Pipinikas
Keywords: ctDNA, PNET
#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
#856 DAXX and ATRX Loss Defines Chromosomal Instability and Poor Outcome in Pancreatic NET
Introduction: Chromosomal Instability (CIN) has been reported in pancreatic neuroendocrine tumors (pNETs) with poor outcome. However, no specific genetic background has been associated with CIN. Whole exome sequencing revealed mutations in DAXX (Death domain associated protein gene) and ATRX (ATR-X gene) in 40% of pNETs. DAXX and ATRX mutations in pNETs are associated with Alternative Lengthening of Telomeres (ALT) activation.
Conference: 11th Annual ENETS Conference (2014)
Category: ...none of the below
Presenting Author: PhD Ilaria Marinoni
Keywords: pNET, Daxx, Atrx, ALT, CIN
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