Václava Curtisová
A5002796355- BRCA gene mutations in cancer
- Nutrition, Genetics, and Disease
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Congenital heart defects research
- Genetic factors in colorectal cancer
- Cardiac Arrhythmias and Treatments
- DNA Repair Mechanisms
- Assisted Reproductive Technology and Twin Pregnancy
- Congenital Heart Disease Studies
- Genomics and Chromatin Dynamics
- Ethics and Legal Issues in Pediatric Healthcare
- Molecular Biology Techniques and Applications
- Genetics, Bioinformatics, and Biomedical Research
- Epigenetics and DNA Methylation
- Ethics in medical practice
- Sexual Differentiation and Disorders
- Ethics in Clinical Research
- RNA and protein synthesis mechanisms
- Cancer Genomics and Diagnostics
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- PARP inhibition in cancer therapy
- Pediatric Hepatobiliary Diseases and Treatments
- Patient Dignity and Privacy
University Hospital Olomouc
2007-2024
Palacký University Olomouc
2017-2024
Wessex Regional Genetics Laboratory
2018
Baylor College of Medicine
2018
Charles University
2018
Abstract RAD18 is an E3 ubiquitin ligase that prevents replication fork collapse by promoting DNA translesion synthesis and template switching. Besides this classical role, has been implicated in homologous recombination; however, function incompletely understood. Here, we show recruited to lesions monoubiquitination of histone H2A at K15 counteracts accumulation 53BP1. Super-resolution microscopy revealed localizes the proximity double strand breaks limits distribution 53BP1 peripheral...
Germline CHEK2 pathogenic variants confer an increased risk of female breast cancer (FBC). Here we describe a recurrent germline intronic variant c.1009-118_1009-87delinsC, which showed splice acceptor shift in RNA analysis, introducing premature stop codon (p.Tyr337PhefsTer37). The was found 21/10,204 (0.21%) Czech FBC patients compared to 1/3250 (0.03%) controls (p = 0.04) and 4/3639 (0.11%) from independent German dataset. In addition, this 5/2966 (0.17%) (but none the 443 German) ovarian...
The Guidelines for Clinical Practice carriers of pathogenic variants in clinically relevant cancer predisposition genes define the steps primary and secondary prevention that should be provided to these individuals at high risk developing hereditary Czech Republic. drafting guidelines was organized by Oncogenetics Working Group Society Medical Genetics Genomics J. E. Purkyně (SLG ČLS JEP) cooperation with representatives oncology oncogynecology. are based on current recommendations National...
Monoallelic germline pathogenic variants (GPVs) in five Fanconi anemia (FA) genes (BRCA1/FANCS, BRCA2/FANCD1, PALB2/FANCN, BRIP1/FANCJ, and RAD51C/FANCO) confer an increased risk of breast (BC) and/or ovarian (OC) cancer, but the role GPVs 17 other FA remains unclear.
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Background Autism spectrum disorder (ASD) is a complex heterogeneous developmental disease with significant genetic background that frequently caused by rare copy number variants (CNVs). Microarray-based whole-genome approaches for CNV detection are widely accepted. However, the clinical significance of most poorly understood, so results obtained using such methods sometimes ambiguous. We therefore evaluated targeted approach based on multiplex ligation-dependent probe amplification (MLPA)...
Autism spectrum disorders (ASD) and intellectual disabilities (ID) are heterogeneous complex developmental diseases with significant genetic backgrounds overlaps of susceptibility loci. Copy number variants (CNVs) known to be frequent causes these impairments. However, the clinical heterogeneity both diagnostic efficacy CNV analysis modest. This could resolved by stratifying patients according their features.First, we sought assess significance particular features for detection pathogenic...
A case of diprosopus twinning which is rare conjoined reported prenatally at 22 weeks’ gestation. 2D ultrasound examinations showed duplication the craniofacial structures with four hemispheres, two cerebella and thalami. There were three orbits external ears, noses, fused adjacent maxilla oral cavities opening jaws. The woman did not consent to any further investigations pregnancy was terminated. postmortem examination confirmed diagnosis in a male fetus crown-rump length 155 mm, weighing...
The aim of this retrospective study was to determine the detection rate pathogenic copy number variants (CNVs) in a cohort 33 foetuses - 32 with CHD (congenital heart defects) and 1 kidney defect, after exclusion common aneuploidies (trisomy 13, 18, 21, monosomy X) by karyotyping, Multiplex ligation dependent probe amplification (MLPA) chromosomal microarray analysis (CMA). We also assess effectivity MLPA as method first tier for quick inexpensive mutations, causing congenital malformations...
The guidelines for clinical practice carriers of pathogenic variants in clinically relevant genes predisposing to Lynch syndrome and colorectal cancer define the steps primary secondary prevention that should be provided individuals at high risk developing hereditary Czech Republic. drafting was organized by Oncogenetics Working Group Society Medical Genetics Genomics J. E. Purkyně Society, cooperation with representatives oncology, oncogynecology, gastroenterology. are based on current...
Objectives: Chromosome microarray (CMA) is indicated in the presence of fetal structural anomalies.UK guidelines exist for reporting copy number variants (CNVs) this setting.Structural brain anomalies may be isolated or associated with other abnormalities.We analysed data collected over 3 years to ascertain prevalence CNVs fetuses anomalies.Methods: Retrospective analysis genetic and clinical was performed cases identified on ultrasound between January 2015 2018.In where invasive testing...
Analysis of prenatal samples from 2015 to 2020. Comparison detection rates clinically relevant variants by cytogenetic karyotype analysis and cytogenomic MLPA (Multiplex Ligation-Depent Probe Amplification) microarray methods (CMA - chromosomal microarray).1,029 were analyzed karyotyping (N = 1,029), 144) CMA 111). All unbalanced changes confirmed or CMA.From the set fetuses, after subtraction aneuploidies 107 (10.40%, N 22 structural aberrations (2.39%, 922) nine (0.98%), 10 balanced...
<p>Detail description of the functional categorization analyzed CHEK2 missense variants.</p>
<p>Characteristics of 12 case-control datasets from the ENIGMA consortium partners.</p>
<p>Detail description of the functional categorization analyzed CHEK2 missense variants.</p>
<p>List of all analyzed CHEK2 variants with results KAP1/CHK2 kinase and localization assays the from recent previously published functional analyses VUS.</p>
<p>Characteristics of 12 case-control datasets from the ENIGMA consortium partners.</p>
<div>AbstractPurpose:<p>Germline pathogenic variants in <i>CHEK2</i> confer moderately elevated breast cancer risk (odds ratio, OR ∼ 2.5), qualifying carriers for enhanced screening. Besides variants, dozens of missense uncertain significance (VUS) have been identified, hampering the clinical utility germline genetic testing (GGT).</p>Experimental Design:<p>We collected 460 VUS identified by ENIGMA consortium 15 countries. Their functional characterization...
<p>Frequencies of all reported germline CHEK2 variant carriers and variants concordantly categorized by functional our kinase assays in breast cancer patients controls 12 analyzed population datasets.</p>