Kyriacos Kyriacou

Kyriacos Kyriacou
Cyprus Institute of Neurology and Genetics · Department of Cancer Genetics Therapeutics and Ultrstructural Pathology

PhD Cell Biology

About

187
Publications
24,612
Reads
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3,278
Citations
Introduction
Cancer genetics Cancer epidemiology Molecular Pathology of cancer Proteomics and molecular Pathology of cancer
Additional affiliations
September 1991 - October 2019
Cyprus Institute of Neurology and Genetics
Position
  • Head of Department
Description
  • Diagnostic services encompassing ultrastructural pathology and molecular pathology Cancer genetics/ epidemiology of cancer/ cancer proteomics and biomarker discovery
Education
June 1978 - July 1978
Kings College Hospital Medical School
Field of study
  • Histopathology/Electron Microscopy
June 1974 - August 1977
University of London
Field of study
  • Biochemistry/Physiology

Publications

Publications (187)
Article
The purpose of this study was to evaluate the neuroprotective effects of omega-3 polyunsaturated fatty acid (ω3-PUFA) supplementation in a mouse model of OPA1-associated autosomal dominant optic atrophy (ADOA). The blood level of arachidonic acid (AA) and eicosapentaenoic acid (EPA) served to adjust the treatment dosage (AA/EPA = 1.0–1.5). Eight-mo...
Article
Full-text available
Duchenne muscular dystrophy (DMD) is a fatal disorder characterised by progressive muscle wasting. It is caused by mutations in the dystrophin gene, which disrupt the open reading frame leading to the loss of functional dystrophin protein in muscle fibres. Antisense oligonucleotide (AON)-mediated skipping of the mutated exon, which allows productio...
Article
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The PRS combines multiplicatively the effects of common low-risk single nucleotide polymorphisms (SNPs) and has the potential to be used for the estimation of an individual’s risk for a trait or disease. PRS has been successfully implemented for the prediction of breast cancer risk. The combination of PRS with classical breast cancer risk factors p...
Article
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Background Next-generation sequencing (NGS) represents a significant advancement in clinical genetics. However, its use creates several technical, data interpretation and management challenges. It is essential to follow a consistent data analysis pipeline to achieve the highest possible accuracy and avoid false variant calls. Herein, we aimed to co...
Article
We aimed to determine genetic diagnosis in the national primary ciliary dyskinesia (PCD) cohort of Cyprus, an island with a high disease prevalence. We used targeted next‐generation sequencing (NGS) of 39 PCD genes in 48 patients of Greek‐Cypriot and other ancestries. We achieved molecular diagnosis in 74% of the unrelated families tested. We ident...
Article
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In Cyprus, approximately 9% of triple-negative (estrogen receptor-negative, progesterone receptor-negative, and human epidermal growth factor receptor 2-negative) breast cancer (TNBC) patients are positive for germline pathogenic variants (PVs) in BRCA1/2. However, the contribution of other genes has not yet been determined. To this end, we aimed t...
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Imbalances in endoplasmic reticulum (ER) homeostasis provoke a condition known as ER stress and activate the unfolded protein response (UPR) pathway, an evolutionarily conserved cell survival mechanism. Here, we show that mouse myoblasts respond to UPR activation by stimulating glycogenesis and the formation of α-amylase-degradable, glycogen-contai...
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Background Alport syndrome (AS) is the second most common hereditary kidney disease caused by mutations in collagen IV genes. Patients present with microhaematuria that progressively leads to proteinuria and End Stage Renal Disease. Currently, no specific treatment exists for AS. Using mass spectrometry based proteomics, we aimed to detect early al...
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Background: Approximately 50% of systemic lupus erythematosus (SLE) patients develop nephritis, which is among the most severe and frequent complications of the disease and a leading cause of morbidity and mortality. Despite intensive research, there are still no reliable lupus nephritis (LN) markers in clinical use that can assess renal damage an...
Article
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Introduction: The importance of biomarkers for pharmaceutical drug development and clinical diagnostics is more significant than ever in the current shift toward personalized medicine. Biomarkers have taken a central position either as companion markers to support drug development and patient selection, or as indicators aiming to detect the earlies...
Article
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ABSTRACT Introduction: The importance of biomarkers for pharmaceutical drug development and clinical diagnostics is more significant than ever in the current shift toward personalized medicine. Biomarkers have taken a central position either as companion markers to support drug development and patient selection, or as indicators aiming to detect th...
Article
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Background: Brain metastasis (BM) is an increasingly common and devastating complication of breast cancer (BC). Methods: A systematic literature search of EMBASE and MEDLINE was conducted to elucidate the current state of knowledge on known and novel prognostic factors associated with 1) the risk for BCBM and 2) the time to brain metastases (TTB...
Chapter
There is ample evidence that the Mediterranean diet reduces breast cancer risk, despite the fact that evidence across studies and populations has not been consistent. The protective effect of the Mediterranean diet is in line with the fact that some of its key components, such as fruit, vegetables, folate, and olive oil, have also been shown to hav...
Article
Myotonic dystrophy type 1 (DM1) is a dominantly inherited, multisystemic disorder characterized clinically by delayed muscle relaxation and weakness. The disease is caused by a CTG repeat expansion in the 3' untranslated region (3' UTR) of the DMPK gene, which leads to the expression of a toxic gain-of-function mRNA. The expanded CUG repeat mRNA se...
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Background: Primary Ciliary Dyskinesia (PCD) diagnosis relies on a combination of tests which may include (a) nasal Nitric Oxide (nNO), (b) High Speed Video Microscopy (HSVM) and (c) Transmission Electron Microscopy (TEM). There is variability in the availability of these tests and lack of universal agreement whether diagnostic tests should be per...
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Objective To evaluate the therapeutic effects of omega-3 (ω3) fatty acids in the retina of aged mice when the blood arachidonic acid (AA)/eicosapentaenoic acid (EPA) ratio is maintained between 1.0 and 1.5. Methods and analysis Aged (24-month-old) wild-type C57BL/6J mice were allocated to two groups: ω3 treated and untreated. Treatment with ω3 was...
Preprint
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Background: Genome-wide association studies have identified over 170 common breast cancer susceptibility loci, many of them with differential associations by estrogen receptor (ER). How these variants are related to other tumor features is unclear. Methods: Analyses included 106,571 invasive breast cancer cases and 95,762 controls of European ances...
Article
BRCA1 BRCA2 mutational spectrum in the Middle East, North Africa, and Southern Europe is not well characterized. The unique history and cultural practices characterizing these regions, often involving consanguinity and inbreeding, plausibly led to the accumulation of population‐specific founder pathogenic sequence variants (PSVs). To determine recu...
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Background Numerous single nucleotide polymorphisms (SNPs) have been implicated with cutaneous melanoma (CM) Objective: The aim of our study was to establish novel susceptibility loci for CM by assessing candidate genes in a published meta‐analysis of 11 genome‐wide association studies (GWASs). Methods 760 variants were retrieved from the MelGene...
Article
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Background: Primary ciliary dyskinesia (PCD) is an inherited ciliary motility disorder caused by mutations in at least 40 genes. RSPH9 gene mutations encoding aberrant radial spoke head proteins have been linked with PCD. The clinical spectrum extent of RSPH9 gene mutations remains to date largely unknown. We aimed to describe the diagnostic and c...
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Background: Complement factor H-related protein 5 (CFHR5) nephropathy is an inherited renal disease characterized by microscopic and synpharyngitic macroscopic haematuria, C3 glomerulonephritis and renal failure. It is caused by an internal duplication of exons 2-3 within the CFHR5 gene resulting in dysregulation of the alternative complement path...
Preprint
Full-text available
Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association analysis with in silico genomic feature annotations. We defined 205 independent risk-associated signals with the set of credible caus...
Article
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The spectrum of of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries
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There has been tremendous progress in detection of breast cancer in postmenopausal women, resulting in two-thirds of women surviving more than 20 years after treatment. However, breast cancer remains the leading cause of cancer-related deaths in premenopausal women. Breast cancer is increasing in younger women due to changes in life-style as well a...
Article
Herein, we maximize the labeling efficiency of cardiac progenitor cells (CPCs) using perfluorocarbon nanoparticles (PFCE-NP) and ¹⁹F MRI detectability, determine the temporal dynamics of single-cell label uptake, quantify the temporal viability/fluorescence persistence of labeled CPCs in vitro, and implement in vivo, murine cardiac CPC MRI/tracking...
Article
Purpose: To evaluate the therapeutic effects of omega-3 (ω3) fatty acids on retinal degeneration in the ABCA4-/- model of Stargardt disease when the blood level of arachidonic acid (AA)/eicosapentaenoic acid (EPA) ratio is between 1 and 1.5. Methods: Eight-month-old mice were allocated to three groups: wild type (129S1), ABCA4-/- untreated, and...
Article
Objectives: Few studies have examined the potentially therapeutic effect of increasing the production of endogenous nitric oxide (NO) in Primary Ciliary Dyskinesia (PCD) and other chronic respiratory conditions. Nasal NO is low in PCD and has been found to correlate with compromised Ciliary Beat Frequency (CBF). In this study we assessed the effec...
Data
Supplementary Figures 1, A – C. SDS PAGE analysis of matched pairs of NAF samples from additional patients and a healthy volunteer (Cases 5 to 15), N = NAF samples from normal breast, D = sample from diseased breast. Arrow indicates the position of serum albumin Supplementary Figure 2. Correlation of NAF profile pairs, HV = healthy volunteer, PB =...
Chapter
In the Western world, the incidence of non-communicable diseases, such as cardiovascular diseases, type 2 diabetes and cancer, is increasing among the younger generation. Currently non-communicable diseases are the leading cause of mortality in the world, imposing a major burden on national economies. It is noteworthy that many cases of these compl...
Article
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Purpose: Nipple secretions are protein-rich and a potential source of breast cancer biomarkers for breast cancer screening. Previous studies of specific proteins have shown limited correlation with clinicopatholigical features. Our aim, in this pilot study, was to investigate the intra- and inter-patient protein composition of nipple secretions an...
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Hereditary ATTR V30M amyloidosis is a lethal autosomal dominant sensorimotor and autonomic neuropathy caused by deposition of aberrant transthyretin (TTR). Immunohistochemical examination of sural nerve biopsies in patients with amyloidotic neuropathy show co-aggregation of TTR with several proteins; including apolipoprotein E, serum amyloid P and...
Data
Figure S1 Flow diagram showing the systematic literature search and review process. All methods were applied in accordance with the PRISMA guidelines. Table S1. Requirements for scientific reporting of proteomic biomarker data reported by Mischak et al. 2010 implemented for the 25 articles obtained in the systematic review.
Article
Herein we report on the preparation and structural characterization of six amphiphilic polymer conetworks (APCN) based on end-linked amphiphilic “core-first” star block copolymers, comprising methyl methacrylate and 2-(dimethylamino)ethyl methacrylate as the monomer repeating units in the hydrophobic and hydrophilic blocks, respectively. The variou...
Article
Oculo-dento-digital dysplasia (ODDD) is a congenital disorder manifesting with multiple phenotypic abnormalities involving the face, eyes, teeth, and limbs in addition to neurologic symptomatology. This report aims to present a female patient with ODDD who was referred due to extensive oral restorative needs. The presence of hypoplastic enamel trig...
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Purpose: Xenobiotic metabolism is related to the interplay between diet and breast cancer (BC) risk. This involves detoxification enzymes, which are polymorphic and metabolise various dietary metabolites. An important characteristic of this pathway is that chemoprotective micronutrients can act not only as substrates but also as inducers for these...
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Starch binding domain-containing protein (Stbd)-1 is a carbohydrate-binding protein, which has been proposed as a selective autophagy receptor for glycogen. Here, we show that mouse Stbd1 is a transmembrane, endoplasmic reticulum (ER)-resident protein with the capacity to induce the formation of organized ER structures in HeLa cells. In addition to...
Article
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Background Diagnostic testing for Primary Ciliary Dyskinesia (PCD) usually includes Transmission Electron Microscopy (TEM), nasal Nitric Oxide, High Speed Video Microscopy and genetics. Diagnostic performance of each test should be assessed towards the development of PCD diagnostic algorithms. We systematically reviewed the literature and quantifie...
Article
Scope: A high adherence to the Mediterranean diet (MD) was previously associated with a decreased risk of breast cancer (BC) among Greek-Cypriot women. Additionally, particular polymorphisms were shown to modulate this MD-BC association. Herein, we aimed to investigate the effect of polymorphisms-MD interactions on the levels of specific metabolit...
Article
Full-text available
Advances in mass spectrometry technologies have created new opportunities for discovering novel protein biomarkers in systemic lupus erythematosus (SLE). We performed a systematic review of published reports on proteomic biomarkers identified in SLE patients using mass spectrometry-based proteomics and highlight their potential disease association...
Article
This paper presents the largest study in Cyprus evaluating the frequency and distribution of BRCA1/2 mutations in a high risk patient cohort. Deleterious mutations in the BRCA1/2 genes were identified in 68 of the 527 patients tested (13%). It is of interest that a quarter of those tested positive, did not have an extensive family history of breast...
Article
Background: Nitric oxide (NO) is low in Primary Ciliary Dyskinesia (PCD) and has been found to be correlated with Ciliary Beat Frequency (CBF). Although low nasal NO is used in PCD diagnosis, few studies have examined the potentially therapeutic effect of increasing endogenous NO. We aimed to examine the effect of increasing NO production substrate...
Article
Background: Infections from microorganisms and parasites have been connected with either increased or decreased cancer risk. The objective of this study was to investigate whether infection by Echinococcus granulosus is associated with cancer risk. Methods: We assembled a pilot retrospective cohort of patients who were diagnosed as being infecte...