A5010234993- BRCA gene mutations in cancer
- Genetic factors in colorectal cancer
- Nutrition, Genetics, and Disease
- Cancer Genomics and Diagnostics
- Genetic and Kidney Cyst Diseases
- Renal and related cancers
- Ovarian cancer diagnosis and treatment
- Genomic variations and chromosomal abnormalities
- Colorectal Cancer Screening and Detection
- Colorectal Cancer Treatments and Studies
- Genetic Syndromes and Imprinting
- Helicobacter pylori-related gastroenterology studies
- Colorectal and Anal Carcinomas
- Chromosomal and Genetic Variations
- Renal cell carcinoma treatment
- DNA Repair Mechanisms
- Digestive system and related health
- Biomedical Ethics and Regulation
- Bioinformatics and Genomic Networks
- Olfactory and Sensory Function Studies
- Prenatal Screening and Diagnostics
- Medicinal plant effects and applications
- Medicinal Plants and Bioactive Compounds
- Child and Adolescent Health
- Ethics and bioethics in healthcare
Charles University
2005-2019
Czech Academy of Sciences, Institute of Animal Physiology and Genetics
2019
General University Hospital in Prague
2010-2018
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...
Germline mutations in the BRCA1 and BRCA2 genes have been shown to account for majority of hereditary breast ovarian cancers. The purpose our study was estimate incidence spectrum pathogenic BRCA1/2 high-risk Czech families. A total 96 families with recurrent and/or cancer 55 patients considered be at but no reported family history were screened genes. entire coding sequence each gene analyzed using a combination protein truncation test direct DNA sequencing. 35 identified (36.5%)....
Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of inherited that results in renal failure. ADPKD a systemic disorder with cysts and connective tissue abnormalities involving many organs. caused by mutations PKD1 gene significantly more severe than cases PKD2 mutations. The large intra-familial variability highlights role for genetic background. Here we report case family initially appearing unlinked to or loci influence mosaicism hypomorphic allele on clinical...
Breast cancer (BC) prognosis in BRCA1 and BRCA2 mutation carriers has been reported contradictorily, the significance of variables influencing sporadic BC is not established patients with hereditary BRCA1/BRCA2 mutations. In this retrospective cohort study, we analyzed effect clinicopathological characteristics on (disease-free survival [DFS] disease-specific [DSS]) carriers. We enrolled 234 899 non-carriers, whom 191 680 complete data, were available for analyses. found that ER-positive...
Germline mutations in the adenomatous polyposis gene (APC) result familial (FAP). FAP is an autosomal dominantly inherited disorder predisposing to colorectal cancer. Typical characterized by hundreds thousands of polyps and several extracolonic manifestations. An attenuated form (AFAP) less than 100 adenomas later onset disease.Here, we analyzed APC for germline 59 Czech 15 Slovak patients. In addition, 50 apparently mutation negative probands 3 origin were screened large deletions...
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder, leading to end stage failure and transplantation in its serious form. The severity of disease's manifestation depends on genetic determination ADPKD. huge variability different phenotypes (even within a single family) not only modulated by two main ADPKD genes (PKD1 PKD2) but also modifier whole background. This report an family with co-inheritance PKD1 PKD2 pathogenic variants. proband,...
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...
During standard molecular diagnostic procedure, two Czech families with APC (Adenomatous polyposis coli gene) mosaicism have been detected. A woman attenuated familial adenomatous (AFAP, OMIM #175100) was recently inspected by next generation sequencing. Standard bioinformatics pipeline, restricted to variants at least 20% of reads (for germline variants) would miss mutation p.G1412X (NM_000038.5) present in 17% reads. This novel variant not any her children. Another a clinical manifestation...
ENWEndNote BIBJabRef, Mendeley RISPapers, Reference Manager, RefWorks, Zotero AMA Walczysková S, Ressner P, Hilscherová Š, Kotlas J, Konrád Svobodová V. GRN mutation in a patient with behavioral variant of frontotemporal lobar degeneration (bvFTD). Folia Neuropathologica. 2017;55(1):67-72. doi:10.5114/fn.2017.66715. APA Walczysková, S., Ressner, P., Hilscherová, Š., Kotlas, J., Konrád, & Svobodová, (2017). Neuropathologica, 55(1), 67-72. https://doi.org/10.5114/fn.2017.66715 Chicago Sylwia,...
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...