Abstract library

85 results for "hotspot mutations".
#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
#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
#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)
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
#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
#1059 Genomic Profiling of Metastatic Gastroenteropancreatic Neuroendocrine Tumor (GEP-NET) Patients in Precision-Medicine Era
Introduction: We have conducted molecular profiling through high-throughput molecular test as part of clinical practice for patients with advanced gastrointestinal (GI) cancer, or rare cancer including gastroenteropancreatic neuroendocrine tumors (GEP-NETs).
Conference: 12th Annual ENETS Conference (2015)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Seung Kim
Authors: Kim S, Yoo K, Jung K, Lee S, ...
#2215 Development of Multiplex Biomarker Assay to Subtype Pancreatic Neuroendocrine Tumors (PanNETs) with Distinct Prognosis and Mutations
Introduction: Overall 5-year survival for PanNETs ranges from 25-100%. The treatment paradigm for PanNETs largely based upon grades, which is significantly heterogeneous. We previously defined three molecular subtypes (distributed grades) of PanNETs using PanNETassigner signature. There is an unmet clinical need for prognostic and predictive biomarkers and clinically-relevant assays to complement grade and improve patient stratification.
Conference: 15th Annual ENETS conference (2018)
Category: Biomarkers
Presenting Author: Dr Anguraj Sadanandam
#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
#99 Gene mutations and Hypoxia Inducible Factor (HIF-1) expression as prognostic-predictive factors in pheochromocytomas/paragangliomas (P/P)
Introduction: P/P are rare tumors sporadically associated with familial disorders. In advanced/unresectable disease, no standard treatment has so far been well established. Recently a mutation of some genes (SDHB, SDHC, SDHD) involved in the pathogenesis of familial P/P was discovered. These mutations are often associated with an over-expression of HIF-1, which plays a central role in angiogenesis and cell proliferation. This pathway is known to be inhibited by some targeted therapies, such as sunitinib or sorafenib.
Conference: 7th Annual ENETS Conference (2010)
Category: Basic
Presenting Author: Emilio Bajetta
#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