Davide Antonello
A5056660858- Cancer Genomics and Diagnostics
- Pancreatic and Hepatic Oncology Research
- Neuroendocrine Tumor Research Advances
- Genetic factors in colorectal cancer
- RNA modifications and cancer
- Genomics and Chromatin Dynamics
- Lung Cancer Research Studies
- Evolution and Genetic Dynamics
- Bioinformatics and Genomic Networks
- Genomics and Phylogenetic Studies
- Lung Cancer Treatments and Mutations
- Chromosomal and Genetic Variations
- Cancer-related molecular mechanisms research
- Epigenetics and DNA Methylation
- Genomics and Rare Diseases
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Nutrition, Genetics, and Disease
- PI3K/AKT/mTOR signaling in cancer
- Cancer, Hypoxia, and Metabolism
- DNA Repair Mechanisms
- Gene expression and cancer classification
- Genetics, Bioinformatics, and Biomedical Research
- Neuroblastoma Research and Treatments
- Mitochondrial Function and Pathology
- Cancer Cells and Metastasis
University of Verona
2000-2022
Pancreas Centre (Canada)
2021
Rust College
2014
Azienda Ospedaliera Universitaria Integrata Verona
2009
University of Bologna
2000
Abstract Somatic mutations in cancer genomes are caused by multiple mutational processes, each of which generates a characteristic signature 1 . Here, as part the Pan-Cancer Analysis Whole Genomes (PCAWG) Consortium 2 International Cancer Genome (ICGC) and The Atlas (TCGA), we characterized signatures using 84,729,690 somatic from 4,645 whole-genome 19,184 exome sequences that encompass most types cancer. We identified 49 single-base-substitution, 11 doublet-base-substitution, 4...
Abstract Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation this variation at whole-genome scale 1–3 . Here we report integrative analysis 2,658 whole-cancer genomes their matching normal tissues across 38 tumour types from Pan-Cancer Analysis Whole Genomes (PCAWG) Consortium International Genome (ICGC) The Atlas (TCGA). We describe generation PCAWG resource, facilitated international data sharing using compute clouds. On...
Mitochondria are essential cellular organelles that play critical roles in cancer. Here, as part of the International Cancer Genome Consortium/The Atlas Pan-Cancer Analysis Whole Genomes Consortium, which aggregated whole-genome sequencing data from 2,658 cancers across 38 tumor types, we performed a multidimensional, integrated characterization mitochondrial genomes and related RNA data. Our analysis presents most definitive mutational landscape identifies several hypermutated cases....
Abstract Here, as part of the Pan-Cancer Analysis Whole Genomes (PCAWG) Consortium, for which whole-genome and—for a subset—whole-transcriptome sequencing data from 2,658 cancers across 38 tumor types was aggregated, we systematically investigated potential viral pathogens using consensus approach that integrated three independent pipelines. Viruses were detected in 382 genome and 68 transcriptome datasets. We found high prevalence known tumor-associated viruses such Epstein–Barr virus...
Intraductal neoplasms are important precursors to invasive pancreatic cancer and provide an opportunity detect treat neoplasia before carcinoma develops. The diagnostic evaluation of these lesions is challenging, as imaging cytological sampling do not accurate information on lesion classification, the grade dysplasia or presence invasion. Moreover, molecular driver gene mutations precursor have yet be fully characterized. Fifty-two intraductal papillary neoplasms, including 48 mucinous...
// Michele Simbolo 1,2,* , Matteo Fassan Andrea Ruzzenente 3,* Mafficini 1 Laura D. Wood 4 Vincenzo Corbo Davide Melisi 5 Giuseppe Malleo 6 Caterina Vicentini Giorgio Malpeli 1,3,6 Antonello Nicola Sperandio Paola Capelli 2 Anna Tomezzoli Calogero Iacono 3 Rita T. Lawlor 1,2 Claudio Bassi Ralph H. Hruban Alfredo Guglielmi Giampaolo Tortora Filippo de Braud 7 Aldo Scarpa ARC-Net Research Centre, University and Hospital Trust of Verona, Italy Department Pathology Diagnostics, Surgery, General...
Abstract In cancer, the primary tumour’s organ of origin and histopathology are strongest determinants its clinical behaviour, but in 3% cases a patient presents with metastatic tumour no obvious primary. Here, as part ICGC/TCGA Pan-Cancer Analysis Whole Genomes (PCAWG) Consortium , we train deep learning classifier to predict cancer type based on patterns somatic passenger mutations detected whole genome sequencing (WGS) 2606 tumours representing 24 common types produced by PCAWG...
Abstract Many primary tumours have low levels of molecular oxygen (hypoxia), and hypoxic respond poorly to therapy. Pan-cancer hallmarks tumour hypoxia remain understood, with limited comprehension its associations specific mutational processes, non-coding driver genes evolutionary features. Here, as part the ICGC/TCGA Pan-Cancer Analysis Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2658 cancers across 38 types, we quantify in 1188 spanning 27 cancer...
Identification of driver mutations in lung adenocarcinoma has led to development targeted agents that are already approved for clinical use or trials. Therefore, the number biomarkers will be needed assess is expected rapidly increase. This calls implementation methods probing mutational status multiple genes inoperable cases, which limited cytological bioptic material available. Cytology specimens from 38 adenocarcinomas were subjected simultaneous assessment 504 hotspots 22...
Abstract Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, most cancers outside the sex organs. Efforts to link these clinical specific molecular features focused on somatic mutations within coding regions genome. Here we report a pan-cancer analysis whole genomes 1983 tumours 28 subtypes as part ICGC/TCGA Pan-Cancer Analysis Whole Genomes (PCAWG) Consortium. We both confirm results exome studies, also uncover previously undescribed...
Abstract Pancreatic endocrine tumors (PETs) occur in association with multiple neoplasia type 1 (MEN1) and von Hippel‐Lindau (VHL) syndromes caused by germline alterations MEN1 VHL , respectively. It is thus expected that these genes will also be altered a proportion of sporadic PETs. Indeed, about 25% nonfamilial PETs, although no mutations have been found . For all clinical subtypes, the frequency allelic loss on chromosome arm 11q mirrors observed mutational frequencies, exception...
Abstract Context.—Pancreatic endocrine neoplasms (PENs) are diagnostically challenging tumors whose natural history is largely unknown. Histopathology allows the distinction of 2 categories: poorly differentiated high-grade carcinomas and well-differentiated neoplasms. The latter include more than 90% PENs clinical behavior varies from indolent to malignant cannot be predicted by their morphology. Objectives.—To review literature report on additional primary material about clinicopathologic...
BackgroundKinases represent potential therapeutic targets in pancreatic endocrine tumours (PETs).Patients and methodsThirty-five kinase genes were sequenced 36 primary PETs three PET cell lines: (i) 4 receptor tyrosine kinases (RTK), epithelial growth factor (EGFR), human epidermal 2 (HER2), tyrosine-protein KIT (KIT), platelet-derived alpha (PDGFRalpha); (ii) 6 belonging to the Akt/mTOR pathway; (iii) 25 frequently mutated cancers. The immunohistochemical expression of four RTKs copy number...
Abstract Solid pseudopapillary neoplasms (SPN) of the pancreas are rare, low‐grade malignant that metastasise to liver or peritoneum in 10–15% cases. They almost invariably present somatic activating mutations CTNNB1 . No comprehensive molecular characterisation metastatic disease has been conducted date. We performed whole‐exome sequencing and copy‐number variation (CNV) analysis 10 primary SPN comparative five matched primary/metastatic tumour specimens by high‐coverage targeted 409 genes....
NRG1 fusions were recently reported as a new molecular feature of Invasive Mucinous Adenocarcinoma (IMA) the lung. The chimeric ligand acts strong inductor phosphorylation and tyrosine kinase activity ErbB2/ErbB3 heterodimer, thus enhancing PI3K-AKT/MAPK pathways. widely investigated in Asian IMA cohorts, whereas just anecdotal information are available about occurrence Caucasian population. Here we firstly explored large cohort 51 IMAs 34 non-IMA cases for rearrangements by fluorescent situ...
Objective A comprehensive analysis of the immune landscape pancreatic neuroendocrine tumours (PanNETs) was performed according to clinicopathological parameters and previously defined molecular subtypes identify potential therapeutic vulnerabilities in this disease. Design Differential expression 600 immune-related genes on 207 PanNET samples, comprising a training cohort (n=72) two validation cohorts (n=135) from multiple transcriptome profiling platforms. Different subtype-related...
Solid-pseudopapillary tumor (SPT) of the pancreas is characterized by a discohesive appearance neoplastic cells. This has been linked to displacement E-cadherin and β-catenin from their normal membrane location, which prevents adherens junctions form. The nuclear localization also feature SPT that helps in differential diagnosis. latter includes pancreatic endocrine (PET) as may show neuroendocrine differentiation, acinar cell carcinoma (ACC) pancreatoblastoma (PB) often staining. However,...
Background Detection of molecular tumor heterogeneity has become paramount importance with the advent targeted therapies. Analysis for detection should be comprehensive, timely and based on routinely available samples. Aim To evaluate diagnostic potential multigene next-generation sequencing (TM-NGS) in characterizing gastrointestinal cancer heterogeneity. Methods 35 tract tumors, five each intestinal type gastric carcinomas, pancreatic ductal adenocarcinomas, intraductal papillary mucinous...
This case report describes the history of a 41 year-old woman with solid pseudopapillary neoplasm (SPN) pancreas and metachronous abdominal desmoid tumor (DT) that occurred two years after SPN surgical resection. At next-generation sequencing 174 cancer-related genes, both neoplasms harbored CTNNB1 somatic mutation which was different in each tumor. Moreover, BRCA2 pathogenic mutations were found tumors, confirmed as germline by normal tissue. The c.631G>A, resulting amino-acid change...
Pancreatic intraductal tubulopapillary neoplasm (ITPN) is a recently recognized neoplasm. This study aimed to clarify the clinicopathologic and molecular features of this entity, based on multi-institutional cohort 16 pancreatic ITPNs associated adenocarcinomas. The genomic profiles were analyzed using histology-driven multi-regional sequencing provide insight tumor heterogeneity evolution. Furthermore, an exploratory transcriptomic characterization was performed eight invasive parameters...