Abstract library

176 results for "susceptibility genes".
#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
#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, ...
#77 Angiogenesis markers after hepatic artery embolization of liver metastases in patients with neuroendocrine tumors
Introduction: In the event of diffuse hepatic metastases, hepatic artery embolization (HAE) can be a successful treatment option in patients with well-differentiated neuroendocrine tumors (WNET). Although there are suggestions of activation of the angiogenesis by HAE, no information is available about the development of growth factors caused by vascular obstruction with embolization.
Conference: 7th Annual ENETS Conference (2010)
Category: Clinical
Presenting Author: MSc Catharina M Korse
Authors: Korse C M, Bonfrer J M, Taal B G, ...
#908 Role of Epithelial-to-Mesenchymal Transition Markers in Predicting Bone and Visceral Metastases from NETs
Introduction: Epithelial-to-mesenchymal transition (EMT) of tumor cells has been recently postulated as a pivotal mechanism driving metastatic spread.
Conference: 11th Annual ENETS Conference (2014)
Category: Biomarkers
Presenting Author: Valeria Simone
Keywords: EMT, biomarker
#2031 Screening of Differentially Expressed Genes in Gastric Neuroendocrine Neoplasms Based on Human Transcriptome Array
Introduction: Gastric neuroendocrine neoplasms (g-NENs) are a heterogeneous group of tumors.
Conference: 15th Annual ENETS conference (2018)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Yaling Wei
Authors: Wei Y, Bai J, He N, Hua X, ...
#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
#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
#1478 The Role of p27 in Pheochromocytoma Development
Introduction: The Cdkn1b gene, encoding p27, is a tumor susceptibility gene for multiple endocrine neoplasia syndromes in rats (MENX) and humans (MEN4) with development of pheochromocytoma (PCC), respectively. Recently, it was reported that p27 indirectly regulates gene transcription by associating with transcription factors (TF) and inhibiting gene transcription at specific promoters.
Conference: 13th Annual ENETS conference (2016)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Andrea Richter
Authors: Richter A, Lalli E, Sass S, Pellegata N, ...
#2050 Finding the Ways to Determine the Prognosis of Pulmonary Carcinoids with Certain Genes/Markers in Pakistan
Introduction: Pulmonary neuroendocrine tumors are classified into four subtypes from well differentiated to poorly differentiated high grade large cell neuroendocrine carcinomas. Because of the difficult histological classification and a cancer free period following surgery, it is often difficult to predict certain prognostic factors.
Conference: 15th Annual ENETS conference (2018)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Dr Arooj Fatima
Authors: Fatima A, Zaidi S S A, ...
#1065 Functional Role of miR-196a in Neuroendocrine Tumor Cells
Introduction: An exclusive miRNA profiling of small intestinal neuroendocrine tumors (SI-NETs) was published in 2013; and nine miRNAs were selected for further investigations. We chose miR-196a to elucidate its target genes and biological functions, by using NET cells as in vitro models.
Conference: 12th Annual ENETS Conference (2015)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Hao Shi
Authors: Shi H, Li S C, Khan M, Caplin M, ...
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