Spiros Tavandzis
A5066715294- BRCA gene mutations in cancer
- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Nutrition, Genetics, and Disease
- Genomics and Rare Diseases
- DNA Repair Mechanisms
- Epigenetics and DNA Methylation
- Olfactory and Sensory Function Studies
- Ovarian cancer diagnosis and treatment
- Advanced Chemical Sensor Technologies
- Molecular Biology Techniques and Applications
- Genomics and Chromatin Dynamics
- PARP inhibition in cancer therapy
- Biochemical Analysis and Sensing Techniques
- Genetics, Bioinformatics, and Biomedical Research
- Tracheal and airway disorders
- RNA and protein synthesis mechanisms
- Male Breast Health Studies
- Cancer-related gene regulation
- Cystic Fibrosis Research Advances
- Prostate Cancer Treatment and Research
- Genetic Neurodegenerative Diseases
- Genetic Associations and Epidemiology
- RNA Research and Splicing
- Food Supply Chain Traceability
Czech Academy of Sciences, Institute of Molecular Genetics
2022-2023
Czech Academy of Sciences, Institute of Animal Physiology and Genetics
2023
Pronatura Noroeste
2023
Gennet
2023
Laboratoire de Génétique Médicale
2014
Mendel University in Brno
2010
Germline mutations in checkpoint kinase 2 ( CHEK2 ), a multiple cancer‐predisposing gene, increase breast cancer (BC) risk; however, risk estimates differ substantially published studies. We analyzed germline variants 1,928 high‐risk Czech breast/ovarian (BC/OC) patients and 3,360 population‐matched controls (PMCs). For functional classification of VUS, we developed complementation assay human nontransformed RPE1‐ ‐knockout cells quantifying CHK2‐specific phosphorylation endogenous protein...
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...
Background Carriers of mutations in hereditary cancer predisposition genes represent a small but clinically important subgroup oncology patients. The identification causal germline determines follow-up management, treatment options and genetic counselling patients' families. Targeted next-generation sequencing-based analyses using cancer-specific panels high-risk individuals have been rapidly adopted by diagnostic laboratories. While the use diagnosis-specific is straightforward typical...
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...
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...
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The polygenic risk score (PRS) allows the quantification of effect many low-penetrance alleles on breast cancer (BC). This study aimed to evaluate performance two sets comprising 77 or 313 loci (PRS77 and PRS313) in patients with BC Czech population.
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.
Lung cancer is one of the most often diagnosed tumours in world with highest mortality. A major problem and reason for high mortality from lung its diagnosis late stages. The main goal preventing deaths early detection stages accurate diagnosis, which must be followed by targeted treatment. Nevertheless, even top diagnostic techniques do not have same accuracy sensitivity as a dog's sense smell. study aims to present results olfactometric using smell dogs unblinded, single-blinded...
Lung carcinoma is one of the most common malignancies worldwide. At present, unfortunately, there are no markers that would allow early identification this tumor in preclinical or clinical stage. The use sniffer dogs has been reported to show some promise diagnosis type cancer Aim: This study aimed evaluate possibility utilizing changes heart rate (which increases when finding a positive sample) detection. double-blinded pilot included two dogs. A chest strap was fastened on dog's chests for...
Východiska: Dědičné mutace v genu CHEK2 kódujícím CHK2 proteinkinázu způsobují středně zvýšené riziko vzniku karcinomu prsu (breast cancer -BC) a dalších nádorových onemocnění.Vysoká populační variabilita mutací výskyt vzácných missense variant nejasného významu (variants of unknown clinical significance -VUS) komplikuje odhad rizika onemocnění u nosičů germinálních variant.Soubor pacientů metody: Mutační analýzu CHEK2, vč.analýzy velkých přestaveb, jsme provedli 1 526 vysoce rizikových...
Background: Hereditary cancer syndromes are an important subset of malignant cancers caused by pathogenic variants in one many known predisposition genes.Dia gnosis is based on genetic testing using next-generation sequencing.This allows genes to be analysed at once, increasing the number identified.The correct classification found essential for clinical interpretation test results.Purpose: The aim this study summarise rules classifying identified within individual laboratories and present...
The use of signal dogs for cancer detection is not yet routinely performed,but and their powerful olfactory system have proven to be a unique valuable tool many lineages are beginning incorporated into medical practice. This method has great advantages; the dog can detect tumour in human body already preclinical stages, when patient no symptoms yet. identification biomarkers enable early diagnosis need types cancer, whose prognosis strongly dependent on stage disease. However, this also its...
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)...
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...
<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>