Abstract library

257 results for "Somatic Mutations".
#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, ...
#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
#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 (2013)
Category: Non digestive NETs (bronchial, MTC, pheochromocytoma)
Presenting Author: Joakim Crona
#271 A Novel Missense Mutation of the TMEM127 Gene that Leads to Pheochromocytoma Phenotype
Introduction: Recently, truncating germline mutations in TMEM127 gene have been identified in 30% of familial cases of adrenal pheochromocytoma (PHEO) and in 3% of apparently sporadic cases.
Conference: 8th Annual ENETS Conference (2011)
Category: Basic
Presenting Author: Rita Domingues
#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
#2795 Molecular Correlation of the Activity of Evofosfamide (EVO) in Combination with Sunitinib (SUN) in Pancreatic Neuroendocrine Tumors (pNETs) in the SUNEVO GETNE Trial
Introduction: MEN1, DAXX, ATRX, and PI3K/AKT/mTOR pathway genes are frequently mutated in pNETs. Sunitinib is approved and widely used in the metastatic setting but unfortunately, no validated predictive biomarker has been identified to guide therapy yet. The SUNEVO phase II trial of the Spanish Task Force Group for Neuroendocrine and Endocrine Tumours (GETNE) trial combined the pro-drug of EVO under SUN-induced hypoxic conditions.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Trials in Progress/Trials in Concept
Presenting Author: Dr. Enrique Grande
#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
#2234 High Rate of Copy-Number Alterations in Gastrointestinal and Pancreatic Neuroendocrine Tumors with Unidentified Driver Mutations
Introduction: The driving genetic alteration leading to neuroendocrine tumor (NET) development has been reported for primary tumors of pancreatic origin, but not for metastases. Moreover, even for primary tumor a significant “dark matter” remains to be explored.
Conference: 15th Annual ENETS conference 2018 (2018)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Dr Amit Tirosh
#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 (2016)
Category: Biomarkers
Presenting Author: Dr Christodoulos Pipinikas
Keywords: ctDNA, PNET
#1160 Exclusive Hotspot Mutation of YY1 Gene in Insulinomas and Extensive Mutation of DAXX in PNETs
Introduction: Somatic mutation of YY1 was shown in sporadic insulinoma, the main type of functional PNET. DAXX mutation occurred mainly in NF-PNET. However, YY1 and DAXX mutations in non-insulinomas and insulinomas, respectively, have not been well elucidated.
Conference: 12th Annual ENETS Conference 2015 (2015)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Dr Yuan-Jia Chen
Authors: Song Y L, Qiao X W, Bai C M, Lu C M, ...
Keywords: YY1, daxx, mutation, PNET