A5003926145- BRCA gene mutations in cancer
- Acute Lymphoblastic Leukemia research
- Cancer-related molecular mechanisms research
- Sarcoma Diagnosis and Treatment
- DNA Repair Mechanisms
- Gut microbiota and health
- Childhood Cancer Survivors' Quality of Life
- Acute Myeloid Leukemia Research
- MicroRNA in disease regulation
- Genetic factors in colorectal cancer
- Pharmaceutical studies and practices
- Inflammatory Bowel Disease
- Liver Disease Diagnosis and Treatment
- Nutrition, Genetics, and Disease
- Estrogen and related hormone effects
- Ovarian cancer diagnosis and treatment
- Helicobacter pylori-related gastroenterology studies
- Cancer Treatment and Pharmacology
- RNA modifications and cancer
- Pharmacogenetics and Drug Metabolism
- Lymphoma Diagnosis and Treatment
- Cancer Genomics and Diagnostics
- Hematopoietic Stem Cell Transplantation
- Diet and metabolism studies
- RNA Research and Splicing
The Maria Sklodowska-Curie National Research Institute of Oncology
2016-2025
Poznań University of Economics and Business
2016
Nicolaus Copernicus University
2011-2013
University of Bydgoszcz
2011
Collegium Medicum in Bydgoszcz
2007-2008
Background. Recent studies have shown that isocitrate dehydrogenase 1/2 (IDH1/2)- activating mutations occur in a variety of cancers, including acute myeloid leukaemia, gliomas, and chondrosarcomas (CHS)s. The effect IDH1/2 mutation on overall survival (OS) has not been reported CHS. aim our study was to assess the prevalence known cancer-related gene CHS, as well their prognostic role patient survival. Methods. DNA from FFPE samples 80 patients (F:M- 1:1.3; mean age: 58 years; range 27-86)...
Abstract Recent studies have demonstrated that heterozygous carriers of the NBS1 657del5 mutation an increased risk for familial and bilateral breast cancer, but similar in consecutive cancer patients were inconclusive. Here, a study 562 nonselected from Central Poland, we found 11 (1.96%) vs. 3.47 expected (OR 3.21, 95%CI: 1.36–7.61, p = 0.0107) only 9 (1.6%) 5382insC BRCA1 gene, most frequently among Poland. No R215W, another pathogenic present study. All had sporadic tumors while 5 family...
Esports is a category of competitive video games that, in many aspects, may be similar to traditional sports; however, the gut microbiota composition players has not been yet studied.
Abstract Background & Aims Wilson's disease (WD) is an autosomal recessive disorder associated with disease‐causing alterations across the ATP7B gene, highly variable symptoms and age of onset. We aimed to assess whether clinical variability WD relates modifier genes. Methods A total 248 patients were included, whom 148 diagnosed after 17. Human exome libraries constructed using AmpliSeq technology sequenced IonProton platform. Results p.His1069Gln mutation was present in 215 patients,...
Most inflammatory bowel diseases (IBDs) are classic complex disorders represented by common alleles. Here we aimed to define the genetic architecture of pediatric and adult-onset IBDs for Polish population. A total 1495 patients were recruited, including 761 with Crohn's disease (CD; 424 pediatric), 734 ulcerative colitis (UC; 390 934 healthy controls. Allelotyping employed a pooled-DNA genome-wide association study (GWAS) was validated individual genotyping. Whole exome sequencing (WES)...
The purpose of our study was to establish the frequency and distribution four most common BRCA1 mutations in Polish general population a series breast cancer patients. Analysis 5382insC (c.5266dupC), 300T >G (p.181T >G), 185delAG (c.68_69delAG) 3819del5 (c.3700_3704del5) gene were performed on group respectively 16,849, 13,462, 12,485 3923 anonymous samples collected at birth seven provinces. patient consisted 1845 consecutive female cases. frequent mutation found 29 out 16,849 (0.17%). 11...
Possible relationships between gut dysbiosis and breast cancer (BC) development progression have been previously reported. However, the results of these metagenomics studies are inconsistent. Our study involved 88 patients diagnosed with 86 cancer-free control women. Participants were divided into groups based on their menopausal status. Fecal samples collected from 47 41 pre- postmenopausal newly 51 35 controls, respectively. In this study, we performed shotgun metagenomic analyses to...
Abstract Primary biliary cholangitis (PBC), primary sclerosing (PSC), and inflammatory bowel diseases (IBDs), including Crohn’s disease (CD) ulcerative colitis (UC), are heterogeneous chronic autoimmune that may share underlying pathogenic mechanisms. Herein, we compared simultaneously analyzed blood transcriptomes from patients with PBC, PSC, IBD. Microarray-based measurements were conducted using RNA isolated whole samples 90, 45, 95 93 CD, UC, respectively, 47 healthy controls. Expression...
The key association between gut dysbiosis and cancer is already known. Here, we used whole-genome shotgun sequencing (WGS) gas chromatography/mass spectrometry (GC/MS) to conduct metagenomic metabolomic analyses identify common distinct taxonomic configurations among 40, 45, 71, 34, 50, 60, 40 patients with colorectal cancer, stomach breast lung melanoma, lymphoid neoplasms acute myeloid leukemia (AML), respectively, compared the data those from sex- age-matched healthy controls (HC)....
It is estimated that about 5-10% of ovarian and 2-5% all breast cancer patients are carriers a germline BRCA1 or BRCA2 gene mutation. Most families with detected mutation qualified for molecular testing on the basis family history cancers. The purpose our study was to establish frequency positive in series Polish consecutive two groups, without mutations. We analysed prevalence four most common mutations: 5382insC (c.5266dupC), 300T>G (p.181T>G), 185delAG (c.68_69delAG) 3819del5...
Pseudoexfoliation syndrome (PEXS) is an age-related elastosis, strongly associated with the development of secondary glaucoma. It clearly suggested that PEXS has a genetic component, but this not been extensively studied. Here, genome-wide association study (GWAS) using DNA-pooling approach was conducted to explore potential variants in Polish population, including 103 patients without glaucoma and 106 perfectly (age- gender-) matched controls. Individual sample TaqMan genotyping used...
The PALB2 gene encodes a protein that plays crucial role in maintaining genomic integrity. Germline inactivating mutations are associated with an increased risk of breast and ovarian cancer. prevalence spectrum recurrent germline cancer patients from Poland is not clearly defined. exons were amplified 460 BRCA1/2-mutation negative women familial and/or early-onset using AmpliSeq technology sequenced on Ion Torrent PGM sequencer. In addition, eight selected variants genotyped TaqMan assays...
The study investigates the practical utility of whole-blood gene expression profiling to diagnose inflammatory bowel diseases [IBDs]. discovery cohorts included 102 and 51 paediatric IBD patients controls, 95 46 adult respectively. replication 447 76 271 108 In phase, RNA samples extracted from whole peripheral blood were analysed using RNA-Seq, predictive values selected biomarkers validated quantitative polymerase chain reaction [qPCR]. all, 15 differentially expressed transcripts...
Tamoxifen, the most frequently used drug for treating estrogen receptor-positive breast cancer, must be converted into active metabolites to exert its therapeutic efficacy, mainly through CYP2D6 enzymes. The objective of this study was investigate impact polymorphisms on (Z)-endoxifen-directed tamoxifen metabolism and assess usefulness genotyping identifying patients who are likely have insufficient (Z)-endoxifen concentrations benefit from standard therapy.Blood samples 279 Polish women...
A large body of evidence indicates that women with polycystic ovary syndrome (PCOS) have a higher risk developing Hashimoto's thyroiditis (HT) than healthy individuals. Given the strong genetic impact on both diseases, common predisposing factors are possibly involved but not fully understood. Here, we performed whole-exome sequencing (WES) for 250 sporadic PCOS, HT, combined PCOS and HT (PCOS+HT), controls to explore background joint occurrence HT. Based relevant comparative analyses,...
Introduction Low diversity gut dysbiosis can take different forms depending on the disease context. In this study, we used shotgun metagenomic sequencing and gas chromatography–mass spectrometry (GC-MS) to compared metabolomic profiles of Clostridioides (Clostridium) difficile diarrheal cancer inflammatory bowel (IBD) patients defined additive effect C. infection (CDI) intestinal dysbiosis. Results The study cohort consisted 138 case-mix patients, 43 IBD 45 healthy control individuals....
Background: The study investigated the impact of starch degradation products (SDexF) as prebiotics on obesity management in mice and overweight/obese children. Methods: A total 48 a normal diet (ND) Western (WD) were divided into subgroups with or without 5% SDexF supplementation for 28 weeks. In human study, 100 children randomly assigned to prebiotic control groups, consuming fruit vegetable mousse 10 g 24 Stool samples analyzed microbiota using 16S rRNA gene sequencing, short-chain fatty...
Background: Sarcomas are rare malignant tumors of mesenchymal origin. The discovery circulating biomarkers with high diagnostic value could supplement diagnosis this heterogenous group tumors. aim study was to identify the profiles miRNA (c-miRNAs) in four groups common bone and soft tissue sarcomas. Methods: At time diagnosis, blood samples were collected from 86 patients: 36 locally advanced/unresectable/metastatic gastrointestinal stromal tumor (GIST) who received first-line treatment...
Ewing sarcoma (ES) is a highly aggressive malignancy of bone and soft tissues characterized by the presence genetic fusion involving EWSR1 gene. More than one-third patients develop distant metastases, which are associated with unfavorable prognosis. Knowledge about disease's landscape may help foster progress in using targeted therapies treatment ES.The objective to assess mutational ES pretreatment samples, tumor samples after neoadjuvant chemotherapy, metastatic/recurrent tumors children...
A certain minimum plasma concentration of (Z)-endoxifen is presumably required for breast cancer patients to benefit from tamoxifen therapy. In this study, we searched DNA variants that could aid in the prediction risk insufficient exposure. metabolic ratio (MR) corresponding efficacy threshold level was adopted as a cutoff value genome-wide association study comprised 287 patients. Multivariate regression used preselect variables exhibiting an independent impact on MR and develop models...
Assessment of non-HLA variants alongside standard HLA testing was previously shown to improve the identification potential coeliac disease (CD) patients. We intended identify new genetic associated with CD in Polish population that would risk prediction when used haplotype analysis. DNA samples 336 and 264 unrelated healthy controls were create pools for a genome wide association study (GWAS). GWAS findings validated individual tag single nucleotide polymorphism (SNP) typing 473 patients 714...
The primary goal of mammography screening is to decrease mortality in patients with breast cancer.Evaluation the program results on course implemented therapy and its carcinoma patients.Evidence includes data group 1818 cancer that were subject surgical treatment at Clinic Breast Cancer Reconstructive Surgery Oncology Center Bydgoszcz (558 hospitalized from January 2006 December 1260 treated 2011 June 2012). Analysis included type diagnostic procedure before treatment, as well grade...
Despite great efforts, most of the genetic factors contributing to risk colorectal cancer (CRC) remain undetermined. Including small but homogenous populations in genome-wide association studies (GWAS) can help us discover new common variants specific studied population. In this study, including 465 CRC patients and 1548 controls, a pooled DNA samples-based GWAS was conducted search associated with Polish Combined method selecting single-nucleotide polymorphisms (SNPs) for verification...