Abstract library

8 results for "susceptibility".
#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
#1100 Cyclin-Dependent Kinase Inhibitor 2A (CDKN2A/P16) Polymorphisms and Risk of Pancreatic Neuroendocrine Tumors
Introduction: Pancreatic neuroendocrine tumors (PNETs) represent only 1% of all pancreatic neoplasms by incidence, but 10% by prevalence. Family history of cancer is the only established risk factor so far. The impact of germline genetic variability on PNET risk is poorly understood.
Conference: 12th Annual ENETS Conference (2015)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Federico Canzian
#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
#416 A Rare Case of Cushing Syndrome Caused by an Ectopic ACTH-Secreting Pancreatic Neuroendocrine Tumor in a Patient with Von Hipple-Lindau Disease
Introduction: Von Hipple-Lindau (VHL) disease is a rare autosomal dominant disorder, that causes the susceptibility to various tumors, both benign and malignant. The most frequent tumors are central nervous system haemangioblastomas, especially cerebellum and retinal haemangioblastomas, renal cell carcinoma /renal cysts and pheocromocytoma.
Conference: 9th Annual ENETS Conference (2012)
Category: Clinical
Presenting Author: Andrea Lania
#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
#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
#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, ...