A5032048894- BRCA gene mutations in cancer
- Nutrition, Genetics, and Disease
- Genetic factors in colorectal cancer
- T-cell and Retrovirus Studies
- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Genetics, Bioinformatics, and Biomedical Research
- RNA Interference and Gene Delivery
- Renal Diseases and Glomerulopathies
- Cancer Genomics and Diagnostics
- Cleft Lip and Palate Research
- T-cell and B-cell Immunology
- Virus-based gene therapy research
- CRISPR and Genetic Engineering
- Urological Disorders and Treatments
- Renal Transplantation Outcomes and Treatments
- Ovarian cancer diagnosis and treatment
- DNA Repair Mechanisms
- Transgenic Plants and Applications
- Craniofacial Disorders and Treatments
- Tumors and Oncological Cases
- Organ Donation and Transplantation
- Biochemical and Structural Characterization
- Polyomavirus and related diseases
- Renin-Angiotensin System Studies
Charles University
1990-2024
General University Hospital in Prague
2013-2024
University Hospital Kralovske Vinohrady
2018
Czech Academy of Sciences
1999
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...
Several reports indicate that inherited mutations in the PALB2 gene predispose to breast cancer. However, there is little agreement about clinical relevance and usefulness of mutation screening this gene. We analyzed prevalence spectrum germline estimate their contribution hereditary and/or ovarian cancer Czech Republic.The entire coding region was sequenced 409 breast/ovarian patients negative for BRCA1 BRCA2 mutations. Testing large genomic rearrangements (LGR) performed by multiplex...
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...
Pericentric inversion of human chromosome 9 [inv(9)] is a relatively common cytogenetic finding. It largely considered clinically insignificant variant the normal karyotype. However, numerous studies have suggested its possible association with certain pathologies, e.g., infertility, habitual abortions or schizophrenia. We analysed incidence inv(9) and spectrum clinical indications for karyotyping among carriers in three medical genetics departments Prague. In their databases, 26,597 total...
To analyze methodological influences and characterize the concentrations of cell-free fetal DNA (cffDNA) circulating in maternal plasma at different gestational ages physiological pregnancies.We investigated 238 independent samples from single male-bearing pregnancies gestation age. In other 50 pregnancies, were collected three times during pregnancy (at all trimesters) to evaluate kinetics cffDNA. The manual automated extraction methods (Roche) compared. cffDNA was amplified using real-time...
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Choosing the optimal season for conception is a part of family planning since it can positively influence pregnancy outcome. Changes in monthly number infants born with birth defect signal prenatal damage - death or malformation related to harmful seasonal factor. The aim our paper was search possible differences numbers new-borns an orofacial cleft and thus period that increase risk development.Mean live births Bohemia region Czech Republic during years 1964-2000 were compared within group...
SouhrnVýchodiska: Gen PALB2 (FANCN) kóduje DNA reparační protein, který byl objeven jako součást endogenního multiproteinového komplexu BRCA2.Společně s proteiny BRCA1 a BRCA2 se funkčně podílí na opravách dvouřetězcových zlomů DNA.Dědičné mutace
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...
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...
<div>Abstract<p><b>Background:</b> Several reports indicate that inherited mutations in the <i>PALB2</i> gene predispose to breast cancer. However, there is little agreement about clinical relevance and usefulness of mutation screening this gene. We analyzed prevalence spectrum germline estimate their contribution hereditary and/or ovarian cancer Czech Republic.</p><p><b>Methods:</b> The entire coding region was sequenced 409...