A5081110467- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- Renal Diseases and Glomerulopathies
- Genetic factors in colorectal cancer
- Renal and related cancers
- Chronic Kidney Disease and Diabetes
- Liver Disease Diagnosis and Treatment
- Male Breast Health Studies
- Ovarian cancer diagnosis and treatment
- Cardiac Valve Diseases and Treatments
- Innovative Microfluidic and Catalytic Techniques Innovation
- Folate and B Vitamins Research
- Genetic Syndromes and Imprinting
- Bone and Dental Protein Studies
- PARP inhibition in cancer therapy
- Systemic Sclerosis and Related Diseases
- Pediatric Urology and Nephrology Studies
- Medieval European History and Architecture
- Genetic and Kidney Cyst Diseases
- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Historical and Cultural Studies of Poland
- Immunodeficiency and Autoimmune Disorders
- Cancer Immunotherapy and Biomarkers
- Tumors and Oncological Cases
Charles University
2013-2024
General University Hospital in Prague
2013-2024
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...
(1) Background: The proportion and spectrum of germline pathogenic variants (PV) associated with an increased risk for pancreatic ductal adenocarcinoma (PDAC) varies among populations. (2) Methods: We analyzed 72 Belgian 226 Czech PDAC patients by multigene panel testing. prevalence in relation to personal/family cancer history were evaluated. risks calculated using both gnomAD-NFE population-matched controls. (3) Results: In 35/298 (11.7%) a PV established PDAC-predisposition gene was...
Hepatocellular carcinoma (HCC) mainly stems from liver cirrhosis and its genetic predisposition is believed to be rare. However, two recent studies describe pathogenic/likely pathogenic germline variants (PV) in cancer-predisposition genes (CPG). As the risk of de novo tumors might increased PV carriers, especially immunosuppressed patients after a transplantation, we analyzed prevalence CPG HCC considered for transplantation. Using panel NGS targeting 226 CPGs, DNA 334 Czech 1662...
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.
Mutations in INF2 are frequently responsible for focal segmental glomerulosclerosis (FSGS), which is a common cause of end stage renal disease (ESRD); additionally, they also connected with Charcot-Marie-Tooth neuropathy. encodes inverted formin 2. This protein participates regulation the dynamics actin cytoskeleton, involving not only polymerisation, but depolymerisation filaments. The present study first mutational analysis done Czech Republic. Mutational was performed on 109 patients...
α-Actinin 4, encoded by ACTN4 , is an F-actin crosslinking protein which belongs to the spectrin gene superfamily. It has a head-to-tail homodimer structure with three main domains. Mutations in are associated idiopathic nephrotic syndrome (NS). However, until today only few mutations have been described this gene. We used genomic DNA of 48 patients focal segmental glomerulosclerosis (FSGS) and minimal change disease (MCD) screen for high-resolution melting analysis (HRM). Suspect samples...
Background and aim Gene defects contribute to the aetiology of intrahepatic cholestasis. We aimed explore outcome whole-exome sequencing (WES) in a cohort 51 patients with this diagnosis. Patients methods Both paediatric (n = 33) adult 18) cholestatic liver disease unknown were eligible. WES was used for reassessment 34 (23 children) without diagnostic genotypes ABCB11 , ATP8B1 ABCB4 or JAG1 demonstrable by previous Sanger sequencing, primary assessment additional 17 (10 children)....
The crucial requirement of molecular genetic methods is high-quality input material. key question "how to preserve DNA during long-term storage." Biobanks are recommended aliquot isolated into provided volumes. aim this study was analyse the effect repeated freezing and thawing on genomic integrity, quality concentration. aliquoted from blood cells using automatic MagNA system manual salting out method underwent freeze/thaw cycles at different storage conditions (-20 °C, -80 °C liquid...
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)...
As the number of cancer patients globally increases, a need for reliable biomarkers including circulating tumour DNA from liquid biopsy diagnosis, prognosis and monitoring disease is rising. Currently, mainly tissue samples are used, but there certain limitations: firstly, it an invasive technique, secondly, in some cases almost impossible to obtain acceptable sample. This could be changed by using cell-free biopsy, which also gives possibility repeated examination. Here, we focus on options...
Immunotherapy has dramatically influenced and changed therapeutical approach in non-small cell lung cancer (NSCLC) recent five years. Even though we can reach long-term response to this treatment approximately 20% of patients with NSCLC, are still not able identify cohort based on predictive biomarkers. In our study have focused tumor mutation burden (TMB), one the potential biomarkers which could predict effectiveness check-point inhibitors, but several limitations, especially multiple...