Abstract library

466 results for "gene amplification".
#1202 Role of Amplifications in the PIK3/Akt/mTOR-Pathway in Neuroendocrine Tumors of the Small Intestine
Introduction: Amplifications in the PIK3/Akt/mTOR pathway can lead to increased proliferation and reduced apoptosis, resulting in the development of various cancers. Recently, amplifications of Akt1/2, PDGFRα/β and mTOR in small intestine neuroendocrine tumors (siNET) have been shown.
Conference: 12th Annual ENETS Conference (2015)
Category: Basic Science - mTOR and other pathways, signalling, receptors
Presenting Author: Maike Hoffmeister
#1315 Genes Involved in Angiogenesis and mTOR Are Frequently Found Mutated in Asian Patients with Pancreatic Neuroendocrine Tumors.
Introduction: There are limited data and inconsistent findings of genetic alteration in pancreatic neuroendocrine tumors (pNET).
Conference: 13th Annual ENETS conference (2016)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: MD Chen Ming-Huang
Authors: Wen-Chi C, Yi-Chen Y, Yi-Ming S, Yee C, ...
#1438 An Unusual Phenotype of Multiple Endocrine Neoplasia Type 1 with a Small Intestine Neuroendocrine Tumor Associated with Large Deletion of the MEN1 Gene
Introduction: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited tumor syndrome that is caused by germline mutations in the Menin suppressor gene on chromosome 11q13. Small intestine neuroendocrine neoplasias (SI-NEN) are currently not considered to be part of the phenotype of the MEN1-syndrome.
Conference: 13th Annual ENETS conference (2016)
Category: Clinical cases/reports
Presenting Author: MD Jerena Manoharan
#2162 Single Cell Copy Number Variation Analysis (CNV) of Circulating Tumor Cells (CTCs) in Neuroendocrine Tumor (NET) Patients
Introduction: The identification and characterization of CTCs as part of a minimally invasive “liquid biopsy” provides an opportunity to explore NET biology, identify therapeutic targets and investigate tumour heterogeneity.
Conference: 15th Annual ENETS conference (2018)
Category: Basic Science - In vitro models, tumor growth, CTCs
Presenting Author: Dr Alexa Childs
Authors: Childs A, Vesely C, Rizzo F M, Ensell L, ...
#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
#122 Molecular genetic findings in gastric carcinoid suggest possible neurofibromin/Ras pathway involvement in carcinoid pathogenesis
Introduction: The molecular pathogenesis of gastrointestinal carcinoid tumours is poorly understood. We have been undertaking molecular genetic investigations of a young woman with neurofibromatosis type 1 (NF1) in whom a gastric carcinoid tumor was detected following an episode of gastrointestinal bleeding. She was otherwise relatively mildly affected by NF1. In NF1, gastric carcinoids have been found previously only in patients with other predisposing factors, which were absent in this patient.
Conference: 7th Annual ENETS Conference (2010)
Category: Basic
Presenting Author: Dr Edward S Tobias
#167 Localization of Sporadic Neuroendocrine Tumors by Gene expression Analysis of Their Metastases
Introduction: Primary neuroendocrine tumors (NETs) are rare and often difficult to detect, leading to diagnosis late in their development. Cases in which the primary cannot be located are denoted as CUP-Syndrome.
Conference: 8th Annual ENETS Conference (2011)
Category: Basic
Presenting Author: Dipl. Biol. Nicole Posorski
#930 Distinct Expression of Splicing Variants of the Human MEN1 (Multiple Endocrine Neoplasia Type 1) Gene in Various Pituitary Adenomas
Introduction: MEN1 is an autosomal-dominant tumor syndrome characterized by the occurrence of tumors in multiple endocrine tissues, including parathyroid, enteropancreatic neuroendocrine and anterior pituitary. The MEN1 gene consists of 10 exons transcribed into a 610 a.a. protein. It was reported that heterogeneity of human MEN1 gene transcripts related to variation in their 5’ UTR. Six distinct exsons1 (e1A-e1F) were isolated using RNA from thymus, pancreas and kidney.
Conference: 11th Annual ENETS Conference (2014)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Atsushi Ozawa
Keywords: MEN1, pituitary
#62 Genome-wide DNA methylation profiling of pancreatic neuroendocrine tumors identifies distinct methylation profiles and differentially methylated gene promoter regions associated with low, medium and high grade tumors
Introduction: Integration of genetics and epigenetics has emerged as a powerful approach to studying cellular differentiation (Mikkelsen et al, 2009) and tumorigenesis (Shen et al, 2007). The study of DNA methylation is of particular importance in cancer, as causal involvement has been demonstrated and it is the most stable of all epigenetic modifications, making it a desirable marker for both early detection and treatment of tumors. Hypermethylation of CpG sites in gene promoter regions leads to decreased gene expression; if such a gene is a tumor suppressor, this leads to carcinogenesis. To date, there have been no studies of genome-wide DNA methylation profiling of NETs. This study sets out to determine the DNA methylation profiles of low, intermediate and high grade pancreatic NET liver metastases with the intention of identifying dysregulated biological pathways in the development of these tumors. A protocol for the analysis formalin-fixed paraffin embedded tissue (FFPE) has also been developed in order to study these tumors in significant numbers following this pilot study.
Conference: 7th Annual ENETS Conference (2010)
Category: Basic
Presenting Author: Dr Christina Thirlwell
#89 Hyperplasia-adenoma sequence in pituitary carcinogenesis: new insight into the role of AIP gene
Introduction: Pituitary adenoma predisposition has been recently associated with germline mutations in the Aryl-Hydrocarbon Receptor Interacting Protein (AIP) gene. This association has been detected in familial and, more rarely, in sporadic cases. The mechanisms by which the AIP mutations promote pituitary adenoma development remain unknown.
Conference: 7th Annual ENETS Conference (2010)
Category: Basic
Presenting Author: MD Chiara Villa