Abstract library

6 results for "genomics".
#2180 BRAF-V600E Driven Mutations in Grade 3 Neuroendocrine Carcinomas of Colon Origin: Results from Genomic/Epigenomic Profilings and Patient-Derived Mouse Model
Introduction: NECs of colon origin are orphan and highly aggressive neoplasms with limited molecular knowledge.
Conference: 15th Annual ENETS conference (2018)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Dr Jaume Capdevila
#2281 A Novel Classification of Pancreatic Neuroendocrine Tumors (pNETs) Guided by Genomics
Introduction: NET outcomes differ by primary site. Yet pNETs are classified using a generic GI grading system.
Conference: 15th Annual ENETS conference (2018)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Dr Kate Parker
#2272 Enhancing Diagnostic Precision Through Combined Genomic and Histopathological Analysis of Pancreatic Neuroendocrine Tumors
Introduction: Diagnostic differentiation of uncommon pancreatic malignancies can be challenging, but is essential for accurate clinical management; genomic analysis may provide a tool for making this critical distinction.
Conference: 15th Annual ENETS conference (2018)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Tamsin Robb
#2297 Merkel Cell Carcinomas in New Zealand: Virus or Ultra Violet?
Introduction: Merkel Cell Carcinoma (MCC) is a rare Neuroendocrine skin tumour. MCC behavior is more aggressive than the more common Melanoma, with treatments often restricted to surgery or radiotherapy, although immunotherapy holds promise overseas. In 2008, a USA study identified an oncogenic polyomavirus (MCPyV) present in eight of ten tested MCC tumours. Studies from across Europe and the USA confirmed MCPyV presence in ~80% of all MCCs. However, a cohort from Australia found a rate of just 24%, suggesting an alternative mechanism; ultra violet (UV) exposure was suspected and later confirmed using genomic mutational signature analysis. Are these are two separate diseases, requiring different clinical management strategies for best patient outcomes?
Conference: 15th Annual ENETS conference (2018)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Tamsin Robb
Authors: Robb T, Woodhouse B, Parker K, Miller R, ...
#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
#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