Monika Koudová
A5022052795- BRCA gene mutations in cancer
- Prenatal Screening and Diagnostics
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Nutrition, Genetics, and Disease
- Cystic Fibrosis Research Advances
- Genomics and Rare Diseases
- Ovarian cancer diagnosis and treatment
- Genetics and Neurodevelopmental Disorders
- Pancreatitis Pathology and Treatment
- Genomic variations and chromosomal abnormalities
- Tracheal and airway disorders
- Congenital Heart Disease Studies
- Congenital Diaphragmatic Hernia Studies
- Congenital heart defects research
- DNA Repair Mechanisms
- Molecular Biology Techniques and Applications
- Epigenetics and DNA Methylation
- PARP inhibition in cancer therapy
- Neonatal Respiratory Health Research
- Genomics and Chromatin Dynamics
- Congenital Anomalies and Fetal Surgery
- Genetics, Bioinformatics, and Biomedical Research
- Genetic Syndromes and Imprinting
- RNA Research and Splicing
Gennet
2016-2024
Masaryk Memorial Cancer Institute
2024
Czech Academy of Sciences, Institute of Molecular Genetics
2012-2020
Charles University
2000-2014
Amsterdam University of Applied Sciences
2014
Institute of Human Genetics
2014
Columbia College - Missouri
2014
University Hospital in Motol
2004-2012
Friedrich-Alexander-Universität Erlangen-Nürnberg
2006
Charité - Universitätsmedizin Berlin
2006
Ovarian cancer (OC) is the deadliest gynecologic malignancy with a substantial proportion of hereditary cases and frequent association breast (BC). Genetic testing facilitates treatment preventive strategies reducing OC mortality in mutation carriers. However, prevalence germline mutations varies among populations many rarely mutated predisposition genes remain to be identified. We aimed analyze 219 1333 Czech patients 2278 population-matched controls using next-generation sequencing....
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...
Abstract The subset of ovarian cancer (OC) diagnosed ≤ 30yo represents a distinct subgroup exhibiting disparities from late-onset OC in many aspects, including indefinite germline predisposition. We performed DNA/RNA-WES with HLA-typing, PRS assessment and survival analysis 123 early-onset OC-patients compared to histology/stage-matched unselected OC-patients, population-matched controls. Only 6/123(4.9%) carried pathogenic variant (GPV) high-penetrance OC-predisposition genes. Nevertheless,...
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...
Endometrial cancer (EC) is the most common gynecological malignancy in developed countries. The present study aimed to determine frequency of germline pathogenic variants (PV) patients with EC. In this multicenter retrospective cohort study, genetic testing (GGT) was performed 527 EC using a next generation sequencing panel targeting 226 genes, including 5 Lynch syndrome (LS) and 14 hereditary breast ovarian (HBOC) predisposition 207 candidate genes. Gene-level risks were calculated 1,662...
CFTR mutations enhance susceptibility for idiopathic chronic pancreatitis (ICP) and congenital bilateral absence of the vas deferens (CBAVD); however, it is unknown why heterozygotes are at increased disease risk. We recently showed that common variants associated with aberrantly spliced transcripts. Here, we genotyped tested associations in two ICP (ICP-A: 126 patients, 319 controls; ICP-B: 666 1,181 controls) a CBAVD population (305 controls). Haplotype H10 (TG11-T7-470V) conferred...
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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A child born with ambiguous genitalia (Prader III) was found to have a 45,X[92.2%]/46,X,psu dic(Y)(p12)[7.8%] karyotype in peripheral blood lymphocytes. The testosterone level consistent that of normal male; however, gonadotropins were elevated. Ultrasound and endoscopy the urogenital sinus revealed well-developed Müllerian structures. At 3.5 months, operated for right-sided incarcerated hernia, gonad situated at inguinal region biopsied classified as primitive testis. Based on presence...
Chromosome 17q21.31 microdeletion syndrome is a genomic disorder caused by recurrent 600 kb long deletion. The deletion affects the region of common inversion present in about 20% Europeans. associated with H2 haplotype carrying additional low-copy repeats susceptible to non-allelic homologous recombination, and this prone No instances deletions inherited from an affected parent have been reported, always parental chromosome haplotype. characterized clinically intellectual disability,...
Abstract The subset of ovarian cancer (OC) diagnosed ≤ 30yo represents a distinct subgroup exhibiting disparities from late-onset OC in many aspects, including indefinite germline predisposition. We performed DNA/RNA whole exome sequencing together with human leukocyte antigen(HLA) typing, polygenic risk score(PRS) assessment and survival analysis 123 early-onset patients compared to histology/stage-matched unselected patients, population-matched controls. Only 6/123(4.9%) carried pathogenic...
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...
Male breast cancer (mBC) is a rare diagnosis that constitutes less than 1 % of all cases globally. Genetic factors play an important role in the mBC risk. Germline pathogenic variants (PVs) predisposition genes could be identified about 15 cases. We performed germline genetic testing 248 Czech patients and 3,626 non-cancer male controls using next-generation sequencing by CZECANCA panel (226 genes). 46/248 (18.5 %) carriers PVs established genes, primarily BRCA2 (N = 34), frequently BRCA1 7)...
The pyrimidine analogue 5-fluorouracil (5-FU) is widely used for chemotherapy of many solid tumors, such as colorectal, breast, head/neck, ovarian and skin cancer. More than 80% administered 5-FU rapidly detoxified in the liver via a multistep metabolic pathway, involving dihydropyrimidine dehydrogenase (DPD) initial rate-limiting enzyme. Reduced DPD activity can lead to accumulation active metabolite (FdUMP), which leads toxicity. Individuals with low (about 3-5% patients) cannot...
Ovarian cancer is a disease with high mortality. Approximately 1,000 women are diagnosed ovarian in the Czech Republic annually. Women harboring mutation cancer-predisposing genes face an increased risk of tumor development. Mutations BRCA1, BRCA2, BRIP1, and Lynch syndrome (RAD51C, RAD51D, STK11) associated cancer, mutations ATM, CHEK2, NBN, PALB2, BARD1 appear to increase risk. Our aim was examine frequency Republic.We analyzed 1,057 individuals including patients 617 non-cancer controls...