A5042601980- Genomic variations and chromosomal abnormalities
- DNA Repair Mechanisms
- Genetics and Neurodevelopmental Disorders
- Cancer Genomics and Diagnostics
- Epigenetics and DNA Methylation
- Prenatal Screening and Diagnostics
- Genetic factors in colorectal cancer
- Carcinogens and Genotoxicity Assessment
- BRCA gene mutations in cancer
- Congenital Anomalies and Fetal Surgery
- Genomics and Rare Diseases
- Neonatal Respiratory Health Research
- Child and Adolescent Health
- Congenital heart defects research
- Childhood Cancer Survivors' Quality of Life
- Nonmelanoma Skin Cancer Studies
- Glutathione Transferases and Polymorphisms
- Ethics and Legal Issues in Pediatric Healthcare
- Congenital gastrointestinal and neural anomalies
- Digestive system and related health
- Glioma Diagnosis and Treatment
- Sirtuins and Resveratrol in Medicine
- Pediatric Hepatobiliary Diseases and Treatments
- Prenatal Substance Exposure Effects
- Genetic and Kidney Cyst Diseases
Wroclaw Medical University
2012-2022
Queen Elizabeth University Hospital
2022
University of Wrocław
2008-2019
In-Q-Tel
2012
Niepubliczna Wyższa Szkoła Medyczna
2007
Aim: Fetal alcohol spectrum disorder (FASD) involves prenatal growth delay, impaired facial and CNS development causes severe clinical, social-economic burdens. Here, we aim to detect DNA-methylation aberrations associated with FASD potential diagnostic prognostic biomarkers. Patients & methods: The diagnosis was established according golden-standard protocols in a discovery independent replication cohort. Genome-wide differential methylation association analyses were performed. Results: We...
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...
Aim: To provide characteristics of major genomic correlates in CpG island methylator phenotype-high (CIMP-H) subgroups relation to corresponding non-CIMP-H by use phenotypic, DNA methylation and RNAseq data. Materials & methods: Twenty-three datasets generated The Cancer Genome Atlas project encompassing over 7200 unique samples were analyzed. We identified 23 CIMP-H clusters unsupervised clustering. Results conclusion: More than 90% significantly associated with accelerated epigenetic...
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,...
Data presented in a number of recent studies have revealed negative correlation between CpG island methylator phenotype (CIMP) and chromosomal instability (CIN) measured by loss heterozygosity (LOH) selected loci, suggesting that CIN CIMP represent two independent mechanisms sporadic colorectal cancer (CRC) carcinogenesis. However, is heterogeneous phenomenon, which may be studied not only employing LOH analysis but also observing imbalances (gains deletions). The current study aimed to...
Abstract Cranioectodermal dysplasia (CED) is a rare autosomal recessive disorder primarily characterized by craniofacial, skeletal, and ectodermal abnormalities. CED chondrodysplasia, which part of spectrum clinically genetically heterogeneous diseases that result from disruptions in cilia. Pathogenic variants genes encoding components the ciliary transport machinery are known to cause CED. Intra‐ interfamilial clinical variability has been reported few studies findings this study align with...
Basal cell carcinoma ( BCC ) of the skin is considered to be most common malignancy in people European ancestry. It often not clinically aggressive and has been regarded as genetically stable. However, histopathologic subtypes differ their ability invade surrounding tissues recur. The aim this work was present a comprehensive study chromosomal imbalances cutaneous correlate findings with clinical features. In all, 101 tumor samples were classified according current microscopic classification...
Psychomotor delay, hypotonia, and intellectual disability, as well heart defects, urogenital malformations, characteristic cranio-facial dysmorphism are the main symptoms of dysmorphic syndrome associated with intergenic deletion in Xq24 chromosome region including UBE2A CXorf56 genes. To date, there is limited information literature about clinical course deletion. Here, we present a case genes nine-year-old boy, whom array comparative genomic hybridization (array-CGH) whole exome sequencing...
Szybka diagnostyka najczęstszych aneuploidii u płodu metodą QF-PCR -analiza 100 przypadkówRapid diagnosis of the most common fetal aneuploidies with method -a study cases ,]DEHOD àDF]PDĔVND 1,2 -XVW\QD *LO $JQLHV]ND 6WHPEDOVND 0DNRZVND -RDQQD .R
Abstract Mowat-Wilson syndrome is a rare neurodevelopmental disorder caused by pathogenic variants in the ZEB2 gene, intragenic deletions of and microdeletions critical chromosomal region 2q22-23, where gene located. characterized typical facial features that change with age, severe developmental delay intellectual disability, multiple congenital abnormalities. The authors describe clinical genetic aspects 28th patients diagnosed Poland. Characteristic dysmorphic features, psychomotor...
Abstract Background Mutations in nucleotide excision repair ( NER ) genes are the cause of xeroderma pigmentosum, a genetic syndrome with proneness to basal cell carcinoma BCC skin. Single polymorphisms SNP s) may affect effectiveness DNA and hence influence individual susceptibility variety neoplasms. The aim this study was find associations between s selected sporadic development. Materials methods group consisted 100 patients histopathologically confirmed control elderly individuals no...