Abstract library

22 results for "daxx".
#856 DAXX and ATRX Loss Defines Chromosomal Instability and Poor Outcome in Pancreatic NET
Introduction: Chromosomal Instability (CIN) has been reported in pancreatic neuroendocrine tumors (pNETs) with poor outcome. However, no specific genetic background has been associated with CIN. Whole exome sequencing revealed mutations in DAXX (Death domain associated protein gene) and ATRX (ATR-X gene) in 40% of pNETs. DAXX and ATRX mutations in pNETs are associated with Alternative Lengthening of Telomeres (ALT) activation.
Conference: 11th Annual ENETS Conference (2014)
Category: ...none of the below
Presenting Author: PhD Ilaria Marinoni
Keywords: pNET, Daxx, Atrx, ALT, CIN
#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
#1312 Epigenetic Remodeling upon DAXX and ATRX Loss in Pancreatic Neuro-endocrine tumors (pNETs)
Introduction: DAXX and or ATRX loss occur in 40% of sporadic pNETs. DAXX and ATRX participate in the cell epigenetic status maintenance. Epigenetic changes influence gene expression, function of telomeres and genomic stability. We hypothesize that DAXX/ATRX loss drives tumor progression in pNET through epigenetic changes affecting genomic stability.
Conference: 13th Annual ENETS conference (2016)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Ilaria Marinoni
Keywords: DAXX/ATRX, epigenetic, CIN
#1186 Significance of ATRX/DAXX Expression and Alternative Lengthening of Telomeres in Insulinomas and Neuroendocrine Tumors of Small Intestine.
Introduction: ATRX and DAXX mutations associated with alternative lengthening of telomeres ( ALT) phenotype have been shown as one of the major altered pathways in pancreatic neuroendocrine tumors (PanNET).
Conference: 12th Annual ENETS Conference (2015)
Category: Basic Science - mTOR and other pathways, signalling, receptors
Presenting Author: Dr.med.univ. Bettina Neumayer
#1259 Expressions of ATRX and DAXX in Hepatic Metastatic Pancreatic Nonfunctional Neuroendocrine Neoplasms
Introduction: Loss of ATRX or DAXX is common in well-differentiated pancreatic neuroendocrine neoplasms, and is correlated with higher tumor stage and shorter survival time.
Conference: 13th Annual ENETS conference (2016)
Category: Biomarkers
Presenting Author: Bao Xin
Authors: Xin B, Lou W, Ji Y, Xie Y, ...
#2128 Epigenetic Changes in DAXX and/or ATRX Negative Pancreatic Neuro-Endocrine Tumors
Introduction: The most commonly mutated genes in Pancreatic Neuroendocrine Tumors (PanNETs) are MEN1, DAXX and ATRX, which encode for proteins involved in epigenetic regulation. DAXX/ATRX mutated PanNETs are globally hypomethylated and behave clinically in a more aggressive way. Tumor pathways associated with these changes are still unclear. We hypothesize that DAXX/ATRX and MEN1 mutations mediate PanNET progression via epigenetic dysregulation.
Conference: 15th Annual ENETS conference (2018)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Annunziata Di Domenico
#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
#2126 Histone Replacement in Cancer: Dissecting the Role of H3.3 Chaperones in Pancreatic Tumorigenesis
Introduction: Cancer driver mutations affecting the histone H3.3 chromatin remodellers ATRX and DAXX were recently discovered in 43% of sporadic pancreatic neuroendocrine tumours (PNET). Progressive age-dependent replacement of canonical H3.1/2 with H3.3 is crucial for maintaining genome integrity through expression of repressive markers at heterochromatic sites, where loading is mediated by ATRX and DAXX. Loss of H3.3 chaperones in PNET is associated with activation of ALT, a telomere maintenance mechanism, eventually leading to chromosome instability. It has been suggested that ATRX/DAXX expression is necessary for repressing ALT, but mechanistic details of this interaction are not fully understood.
Conference: 15th Annual ENETS conference (2018)
Category: Basic Science - In vitro models, tumor growth, CTCs
Presenting Author: PhD Student Teresa Sposito
#1780 PD-L1 Is Expressed in a Subset of Pancreatic Neuroendocrine Tumors (pNET)
Introduction: Programmed death 1 (PD-1) is an immune inhibitory receptor expressed on several immune cells, interacting with two ligands, PD-L1 and PD-L2. The former is expressed in many human cancers and is used as a selection criterion for indication of checkpoint inhibitor therapies. PD-L1 is also a potential target for checkpoint inhibitors in pNET therapy, however no data on prevalence of PD-L1 expression and potential associations to clinico-pathologic features is available.
Conference: 14th Annual ENETS conference (2017)
Category: Basic Science - Signaling pathways, receptors, biomarkers
Presenting Author: MMed Charalampos Saganas
#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