Marie Navrátilová
- Renal cell carcinoma treatment
- Cancer Genomics and Diagnostics
- BRCA gene mutations in cancer
- Renal and related cancers
- Epigenetics and DNA Methylation
- Cancer, Lipids, and Metabolism
- Nutrition, Genetics, and Disease
- Vitamin D Research Studies
- Folate and B Vitamins Research
- Carcinogens and Genotoxicity Assessment
- Genetic Associations and Epidemiology
- DNA Repair Mechanisms
- Genetic factors in colorectal cancer
- Cancer Risks and Factors
- Occupational and environmental lung diseases
- Glutathione Transferases and Polymorphisms
- Air Quality and Health Impacts
- Genomic variations and chromosomal abnormalities
- Ovarian cancer diagnosis and treatment
- Pelvic floor disorders treatments
- Lipoproteins and Cardiovascular Health
- Retinoids in leukemia and cellular processes
- Ferroptosis and cancer prognosis
- Global Cancer Incidence and Screening
- Heavy Metal Exposure and Toxicity
Masaryk Memorial Cancer Institute
2015-2024
Carrier (United States)
2021
Cohort (United Kingdom)
2021
Národný Onkologický Ústav
2019
Institut Curie
2018
Inserm
2018
University Hospital Cologne
2018
University of Cologne
2018
University Hospital Ostrava
2015-2016
Palacký University Olomouc
2010
Abstract Purpose: To provide a comprehensive, thorough analysis of somatic mutation and promoter hypermethylation the von Hippel-Lindau (VHL) gene in cancer genome, unique to clear cell renal (ccRCC). Identify relationships between prevalence VHL alterations alteration subtypes with patient tumor characteristics. Experimental Design: As part large kidney case-control study conducted Central Europe, we analyzed mutations methylation 205 well-characterized, histologically confirmed biopsies...
Abstract International differences in the incidence of many cancer types indicate existence carcinogen exposures that have not yet been identified by conventional epidemiology make a substantial contribution to burden 1 . In clear cell renal carcinoma, obesity, hypertension and tobacco smoking are risk factors, but they do explain geographical variation its 2 Underlying causes can be inferred sequencing genomes cancers from populations with different rates detecting patterns somatic...
Renal tumor heterogeneity studies have utilized the von Hippel-Lindau VHL gene to classify disease into molecularly defined subtypes examine associations with etiologic risk factors and prognosis. The aim of this study was provide a comprehensive analysis inactivation in clear cell renal tumors (ccRCC) evaluate relationships between subgroups cancer germline single nucleotide polymorphisms (SNPs). genetic epigenetic examined among 507 sporadic RCC/470 ccRCC cases using endonuclease scanning...
Abstract Trichloroethylene (TCE) is a suspected renal carcinogen. TCE-associated genotoxicity occurs predominantly through glutathione S-transferase (GST) conjugation and bioactivation by cysteine β-lyase (CCBL1). We conducted case-control study in Central Europe (1,097 cases 1,476 controls) specifically designed to assess risk associated with occupational exposure TCE analysis of detailed job histories. All jobs were coded for organic/chlorinated solvent (ever/never) as well the frequency...
BRCA1 and, more commonly, BRCA2 mutations are associated with increased risk of male breast cancer (MBC). However, only a paucity data exists on the pathology cancers (BCs) in men BRCA1/2 mutations. Using largest available dataset, we determined whether MBCs arising mutation carriers display specific pathologic features and these differ from those female BCs (FBCs). We characterised 419 using logistic regression analysis, contrasted 9675 FBCs population-based 6351 Surveillance, Epidemiology,...
Background Several obesity-related factors have been associated with renal cell carcinoma (RCC), but it is unclear which individual directly influence risk. We addressed this question using genetic markers as proxies for putative risk and evaluated their relation to RCC in a mendelian randomization (MR) framework. This methodology limits bias due confounding not affected by reverse causation. Methods findings Genetic obesity measures, blood pressure, lipids, type 2 diabetes, insulin, glucose...
Germline mutations in BRCA1 and BRCA2 account for majority of hereditary breast ovarian cancer. The complete coding sequence analysis both genes was carried out 197 breast/ovarian cancer patients from high-risk families 53 with sporadic In summary, 59 (16 different) 29 (17 were identified unrelated and/or index cases. Using the BIC Database numbering, most frequently found c.5385dupC (22 cases), c.3819_3823delGTAAA (8 cases) c.300T>G (6 cases). c.8138_8142delCCTTT (7 c.8765_8766delAG...
Renal cell carcinoma (RCC) is the most lethal urologic cancer. Only two common susceptibility loci for RCC have been confirmed to date. To identify additional loci, we conducted an independent genome-wide association study (GWAS). We analyzed 533 191 single nucleotide polymorphisms (SNPs) with in 894 cases and 1516 controls of European descent recruited from MD Anderson Cancer Center primary scan, validated top 500 SNPs silico 3772 8505 involved only published GWAS RCC. identified variants...
Abstract Background The effect of risk-reducing salpingo-oophorectomy (RRSO) on breast cancer risk for BRCA1 and BRCA2 mutation carriers is uncertain. Retrospective analyses have suggested a protective but may be substantially biased. Prospective studies had limited power, particularly carriers. Further, previous not considered the RRSO in context natural menopause. Methods A multi-centre prospective cohort 2272 1605 was followed mean 5.4 4.9 years, respectively; 426 women developed incident...
Ovarian cancer risk in BRCA1 and BRCA2 mutation carriers has been shown to decrease with longer duration of oral contraceptive use. Although the effects using contraceptives general population are well established (approximately 50% reduction ovarian cancer), estimated is much less precise because potential bias small sample sizes. In addition, only a few studies on use have examined associations use, time since last starting age, calendar year start cancer.
The incidence of breast cancer has doubled over the past 20 years in Czech Republic. Hereditary factors may be a cause young onset, bilateral or ovarian cancer, and familial accumulation disease. BRCA1 BRCA2 mutations account for an important fraction hereditary cases. One thousand ten unrelated high-risk probands with and/or were analysed presence gene mutation at Masaryk Memorial Cancer Institute (Czech Republic) during 1999–2006. complete coding sequences splice sites both genes screened,...
Array comparative genomic hybridization was used to identify copy number alterations in clear cell renal carcinoma (ccRCC) patient tumors associations with patient/clinical characteristics. Of 763 ccRCC patients, 412 (54%) provided frozen biopsies. Clones were analyzed for significant differences, adjusting multiple comparisons and covariates multivariate analyses. Frequent included losses on: 3p (92.2%), 14q (46.8%), 8p (38.1%), 4q (35.4%), 9p (32.3%), 9q (31.8%), 6q (30.8%), 3q (29.4%),...
Abstract Recent genomic studies of sporadic clear cell renal carcinoma (ccRCC) have uncovered novel driver genes and pathways. Given the unequal incidence rates among men women (male:female ratio approaches 2:1), we compared genome-wide distribution chromosomal abnormalities in both sexes. We observed a higher frequency for somatic recurrent copy number variations (CNVs) autosomes male subjects, whereas loss chromosome X was detected exclusively female patients (17.1%). Furthermore, Y (LOY)...
Abstract Background For BRCA1 and BRCA2 mutation carriers, the association between oral contraceptive preparation (OCP) use breast cancer (BC) risk is still unclear. Methods Breast camcer associations were estimated from OCP data on 6030 3809 carriers using age-dependent Cox regression, stratified by study birth cohort. Prospective, left-truncated retrospective full-cohort analyses performed. Results was not associated with BC in prospective (hazard ratio [HR] = 1.08, 95% confidence interval...
Abstract Purpose: Patients with resected localized clear-cell renal cell carcinoma (ccRCC) remain at variable risk of recurrence. Incorporation biomarkers may refine prediction and inform adjuvant treatment decisions. We explored the role tumor genomics in this setting, leveraging largest cohort to date ccRCC tissues subjected targeted gene sequencing. Experimental Design: The somatic mutation status 12 genes was determined 943 cases from a multinational patients, associations outcomes were...
High consumption of cruciferous vegetables has been associated with reduced kidney cancer risk in many studies. Isothiocyanates, thought to be responsible for the chemopreventive properties this food group, are conjugated glutathione by S -transferases ( GSTs ) before urinary excretion. Modification relationship host genetic factors is unknown. We investigated vegetable intake 1097 cases and 1555 controls enrolled a multicentric case–control study from Czech Republic, Poland, Romania Russia....
We conducted a case-control study of renal cancer (987 cases and 1298 controls) in Central Eastern Europe analyzed genomic DNA for 319 tagging single-nucleotide polymorphisms (SNPs) 21 genes involved cellular growth, differentiation apoptosis using an Illumina Oligo Pool All (OPA). A haplotype-based method (sliding window analysis consecutive SNPs) was used to identify chromosome regions interest that remained significant at false discovery rate 10%. Subsequently, risk estimates were...
Purpose Leukocyte global DNA methylation levels are currently being considered as biomarkers of cancer susceptibility and have been associated with risk several cancers. In this study, we aimed to examine the association between long interspersed nuclear elements (LINE-1) levels, a biomarker in blood cell DNA, renal risk. Experimental Design LINE-1 bisulfite-converted genomic isolated from leukocytes was quantified by pyrosequencing measured triplicate, averaged across 4 CpG sites. A total...
To investigate whether occupational exposure to polycyclic aromatic hydrocarbons and certain plastic monomers increased renal cell carcinoma (RCC) risk.
It was hypothesized that increasing the time for which onabotulinum toxin A (OnabotA) is exposed to urothelium following intravesical instillation will augment its effect. TC-3 an inert heat-sensitive hydrogel, creates bulk providing a slow release of embedded drug after instillation. The aim this study evaluate effect OnabotA, in patients with idiopathic overactive bladder (OAB).In total, 39 female (age 30-65, average 53.8 years) OAB symptoms were randomized into four groups, each receiving...
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare variant familial adenomatous polyposis. It an autosomal-dominant cancer-predisposition syndrome with massive significant risk gastric adenocarcinoma. Li et al., 2016, described point mutations in Ying Yang 1 binding site APC gene 1B promoter associated GAPPS syndrome. The first Czech family was 2016. At Masaryk Memorial Cancer Institute, diagnosed eight families using Sanger sequencing. In all families, one...
Tobacco smoking and alcohol consumption have been intensively studied in the general population to assess their effects on risk of breast cancer, but very few studies examined these