A5005261625- Cancer Genomics and Diagnostics
- BRCA gene mutations in cancer
- Machine Learning in Bioinformatics
- RNA and protein synthesis mechanisms
- Genetic factors in colorectal cancer
- Protein Structure and Dynamics
- PARP inhibition in cancer therapy
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- DNA Repair Mechanisms
- Nutrition, Genetics, and Disease
- Pancreatic and Hepatic Oncology Research
- RNA Research and Splicing
- Computational Drug Discovery Methods
- CRISPR and Genetic Engineering
- Lung Cancer Treatments and Mutations
- Receptor Mechanisms and Signaling
- Oral and Maxillofacial Pathology
- Reproductive Biology and Fertility
- Genetics, Bioinformatics, and Biomedical Research
- Retinal Diseases and Treatments
- Genomics and Phylogenetic Studies
- RNA modifications and cancer
- Advanced Proteomics Techniques and Applications
- Cancer Immunotherapy and Biomarkers
Athens Medical Center
2016-2024
National and Kapodistrian University of Athens
2009-2021
Institutul Oncologic Bucuresti
2018
Spitalul Clinic Județean de Urgență Cluj-Napoca
2018
Creative Research Enterprises (United States)
2016
Children's Hospital Agia Sophia
2003
Harefield Hospital
1999
Hereditary cancer predisposition syndromes are responsible for approximately 5-10% of all diagnosed cases. In the past, single-gene analysis specific high risk genes was used determination genetic cause heritability in certain families. The application Next Generation Sequencing (NGS) technology has facilitated multigene panel and is widely clinical practice, identification individuals with predisposing gene variants. purpose this study to investigate extent nature variants implicated...
Non‑small cell lung cancer (NSCLC) is the most common type of and a tumor with broad spectrum targeted therapies already available or in clinical trials. Thus, molecular characterization using next generation sequencing (NGS) technology, has become key tool for facilitating treatment decisions management NSCLC patients. The performance custom 23 gene multiplex amplification hot spot panel, based on Ion AmpliSeq™ was evaluated analysis DNA extracted from formalin-fixed paraffin-embedded...
Analysis of circulating tumor nucleic acids in plasma Non-Small Cell Lung Cancer (NSCLC) patients is the most widespread and documented form "liquid biopsy" provides real-time information on molecular profile without an invasive tissue biopsy.Liquid biopsy analysis was requested by referral physician 121 NSCLC at diagnosis performed using a sensitive Next Generation Sequencing assay. Additionally, comparative relapse following EGFR Tyrosine Kinase Inhibitor (TKIs) treatment 50 both cobas NGS...
PURPOSE The pan-cancer presence of microsatellite instability (MSI)–positive tumors demonstrates its clinical utility as an agnostic biomarker for identifying immunotherapy-eligible patients. Additionally, MSI is a hallmark Lynch syndrome (LS), the most prevalent cancer susceptibility among patients with colorectal and endometrial cancer. Therefore, MSI-high results should inform germline genetic testing cancer-predisposing genes. However, in practice, such analysis frequently disregarded....
Our aim was to evaluate the concordance between Myriad MyChoice and two alternative homologous recombination deficiency (HRD) assays (AmoyDx HRD Focus NGS Panel OncoScan™) in patients with epithelial ovarian cancer (EOC). Tissue samples from 50 newly diagnosed EOC known status were included. DNA aliquots tumor samples, previously evaluated centrally reassessed, distributed laboratories assess their using platforms, after being blinded for CDx status. The primary endpoint each assay. Tumor an...
<h3>OBJECTIVE</h3> To assess the efficacy and complications of device occlusion atrial septal defects in adults, using Amplatzer occluder (ASO). <h3>DESIGN</h3> A prospective interventional study. <h3>SETTING</h3> Paediatric cardiology departments two European teaching hospitals. <h3>PATIENTS</h3> The first 20 patients accepted for defect occlusion, on basis transoesophageal echocardiography. Sixteen had larger with right heart dilatation, while primary indication closure four was a history...
Several microRNA (miRNA) polymorphisms have been associated with susceptibility to specific health disorders, including cardiovascular diseases. The aim of the present study was investigate whether four well-studied miRNA in non-Caucasian populations, namely miR146a G>C (rs2910164), miR149 C>T (rs2292832), miR196a2 (rs11614913) and miR499 A>G (rs3746444), contribute risk for development premature Coronary Artery Disease (CAD) Greek population. We used a case-control examine these...
Background: Hereditary cancer predisposition syndromes are responsible for approximately 5–10% of all diagnosed cases. In order to identify individuals at risk in a cost-efficient manner, family members carrying pathogenic alterations tested only the specific variant that was identified their carrier relative. The purpose this study investigate clinical use and implementation cascade testing (CFT) families breast patients with pathogenic/likely variants (PVs/LPVs) cancer-related genes....
<h3>Abstract</h3> Background/Aim: Germline copy number variation (CNV) is a type of genetic variant that predisposes significantly to inherited cancers. Today, next-generation sequencing (NGS) technologies have contributed multi gene panel analysis in clinical practice. Materials and Methods: A total 2,163 patients were screened for cancer susceptibility, using solution-based capture method. 52 genes was used targeted NGS. The capture-based approach enables computational CNVs from NGS data....
Abstract Background Tumor molecular profile analysis by Next Generation Sequencing technology is currently widely applied in clinical practice and has enabled the detection of predictive biomarkers response to targeted treatment. In parallel with therapies, immunotherapies are also evolving, revolutionizing cancer therapy, Programmed Death-ligand 1 (PD-L1), Microsatellite instability (MSI), Mutational Burden (TMB) being employed most commonly. Methods present study, tumor was performed using...
Tumors harboring homologous recombination deficiency (HRD) are considered optimal candidates for poly(ADP-ribose) polymerase 1 (PARP) inhibitor treatment. Such can be detected by analyzing breast cancer type (BRCA)1/2 gene mutations, as well mutations in other genes of the pathway. The algorithmic measurement HRD effect identifying genomic instability (GI) has been used biomarker. As compared with direct somatic alterations, this approach increases number patients who could benefit from PARP...
Abstract Summary: ExTopoDB is a publicly accessible database of experimentally derived topological models transmembrane proteins. It contains information collected from studies in the literature that report use biochemical methods for determination topology α-helical Transmembrane protein highly important order to understand their function and provides an up date, complete comprehensive dataset determined topologies Topological combined with prediction resulting more reliable models....
A major part of membrane function is conducted by proteins, both integral and peripheral. Peripheral proteins temporarily adhere to biological membranes, either the lipid bilayer or with noncovalent interactions. The aim this study was construct analyze interactions human plasma peripheral (peripherome hereinafter). For purpose, we collected a dataset membrane. We also experimentally verified for these proteins. interaction network created from has been visualized using Cytoscape. grouped...
Pancreatic cancer stands out as one of the most lethal forms malignancies, representing 2% all cases and contributing to 5% cancer-related fatalities. Therefore, early detection pancreatic is crucial for enhancing treatment outcomes. Various hereditary syndromes have been linked an elevated risk developing cancer, suggesting potential benefits from surveillance strategies individuals at risk. Presently, precision medicine employs PARP inhibitor therapy patients carrying germline variants in...
Classification of splicing variants (SVs) in genes associated with hereditary cancer is often challenging. The aim this study was to investigate the occurrence SVs and clinical utility RNA analysis.1518 individuals were tested for predisposition, using a Next Generation Sequencing (NGS) panel 36 genes. Splicing variant analysis performed RT-PCR Sanger Sequencing.In total, 34 different identified, 53% which classified as pathogenic or likely pathogenic. remaining 16 initially Variant...
Background/Aim: The use of multi-gene panels for germline testing in breast cancer enables the estimation risk and guides risk-reducing management options. aim this study was to present data that demonstrate different levels actionability used genetic patients their family members. Materials Methods: We performed an analysis our clinical database identify undergoing testing. reviewed positive results respect management, cascade testing, secondary findings information treatment...
Abstract Summary: Molecular recognition features (MoRFs) are small, intrinsically disordered regions in proteins that undergo a disorder-to-order transition on binding to their partners. MoRFs involved protein–protein interactions and may function as the initial step molecular recognition. The aim of this work was collect, organize store all membrane contain MoRFs. Membrane constitute ∼30% fully sequenced proteomes responsible for wide variety cellular functions. were classified according...