A5087915226- Genomic variations and chromosomal abnormalities
- Genetic factors in colorectal cancer
- DNA Repair Mechanisms
- Prenatal Screening and Diagnostics
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- Cancer-related gene regulation
- Cancer-related Molecular Pathways
- Carcinogens and Genotoxicity Assessment
- Epigenetics and DNA Methylation
- Congenital limb and hand anomalies
- Digestive system and related health
- Genomics and Rare Diseases
- Neonatal Respiratory Health Research
- Congenital heart defects research
- Genetic Syndromes and Imprinting
- Colorectal Cancer Screening and Detection
- Kruppel-like factors research
- Lymphatic System and Diseases
- Ethics and Legal Issues in Pediatric Healthcare
- Advanced biosensing and bioanalysis techniques
- Chromosomal and Genetic Variations
- Congenital Anomalies and Fetal Surgery
Wroclaw Medical University
2014-2025
University of Wrocław
2000-2022
Niepubliczna Wyższa Szkoła Medyczna
2009-2015
International Hereditary Cancer Center
2013
Pomeranian Medical University
2013
Rubinstein–Taybi syndrome (RSTS) is a developmental disorder characterized by typical face and distal limbs abnormalities, intellectual disability, vast number of other features. Two genes are known to cause RSTS, CREBBP in 60% EP300 8–10% clinically diagnosed cases. Both paralogs act chromatin remodeling encode for transcriptional co‐activators interacting with >400 proteins. Up now 26 individuals an mutation have been published. Here, we describe the phenotype genotype 42 unpublished...
Germline mutations in the DNA mismatch repair genes MSH2 and MLH1 account for a significant proportion of hereditary non‐polyposis colorectal cancer (HNPCC) families. One approach by which development an efficient DNA‐testing procedure can be implemented is to describe nature frequency common particular ethnic groups. Two hundred twenty‐six patients from families matching Amsterdam II diagnostic criteria or suspected HNPCC were screened germline mutations. Fifty different pathogenic found,...
Abstract Inherited biallelic mutations of the ATM gene are responsible for development ataxia telangiectasia ( AT ). The objective present study was to conduct molecular analysis in a cohort 24 Polish patients with ataxia‐telangiectasia aim being provide an updated mutational spectrum patients. As result analysis, status recurrent mutation confirmed and ten new variants were detected. Application MLPA allowed detection large genomic deletion. Previously, this type had never been seen our...
DNA damage repair is a complex process, which can trigger the development of cancer if disturbed. In this study, we hypothesize role variants in ATM, H2AFX and MRE11 genes determining breast (BC) susceptibility. We examined whole sequence ATM kinase domain estimated frequency founder mutations gene (c.5932G > T, c.6095G A, c.7630-2A C) single nucleotide polymorphisms (SNPs) (rs643788, rs8551, rs7759, rs2509049) (rs1061956 rs2155209) among 315 patients 515 controls. The analysis was performed...
Chromosomal aberrations (CAs) are important genetic alterations in the development and progression of majority human cancers. The frequency with which such occur depends to a large extent on polymorphisms DNA-repair genes coding for xenobiotic metabolizing enzymes, involved processes activation inactivation xenobiotics. bleomycin (BLM)-induced CAs is an indirect measure effectiveness DNA repair mechanisms, predictor environment-related risk cancer. Our study was conducted peripheral blood...
Abstract Purpose To characterize the spectrum of BRCA1 and BRCA2 pathogenic germline variants in women from south-west Poland west Ukraine affected with breast or ovarian cancer. Testing at high risk cancer these regions is currently mainly limited to founder mutations. Methods Unrelated and/or (n = 337) 123) were screened by targeted sequencing. Excluded sequencing 34 Polish who had previously been identified as carrying a mutation . No prior testing conducted among Ukrainian women. Thus,...
Analysis of the combined effects polymorphisms in genes encoding xenobiotic metabolizing enzymes (XMEs) and DNA repair proteins may be a key to understanding role these susceptibility individuals mutagens. In present study, we performed an vitro experiment on lymphocytes from 118 healthy donors that measured frequency diepoxybutane (DEB) induced sister chromatid exchanges (SCEs) relation genetic coding for XMEs (CYP1A1, CYP2E1, GSTT1, EPHX, NAT2), as well (XRCC1, XRCC2, XRCC3, XPD, XPA, XPC,...
LAS1L encodes a nucleolar ribosomal biogenesis protein and is also component of the Five Friends Methylated CHTOP (5FMC) complex. Mutations in gene can be associated with Wilson–Turner syndrome (WTS) and, much more rarely, severe infantile hypotonia respiratory failure. Here, we present an eighteen-month old boy phenotype spinal muscular atrophy distress (SMARD). By applying WES, identified novel hemizygous synonymous variant inherited from unaffected mother (c.846G > C, p.Thr282=). We...
Skeletal dysplasias (SDs) are a large, heterogeneous group of mostly genetic disorders that affect the bones and cartilage, resulting in abnormal growth development skeletal structures. The high clinical diversity SDs cause difficulties prenatal diagnosis. To establish correct prognosis better management, it is very important to distinguish with poor life-limiting or lethal from other ones. Bad foetuses assessed on basis size thorax, lung volumes, long bones’ length, echogenicity, angulation...