Cezary Cybulski
A5086464692- BRCA gene mutations in cancer
- Ovarian cancer diagnosis and treatment
- Genetic factors in colorectal cancer
- DNA Repair Mechanisms
- Genetic Associations and Epidemiology
- Cancer Genomics and Diagnostics
- Prostate Cancer Treatment and Research
- PARP inhibition in cancer therapy
- Epigenetics and DNA Methylation
- Cancer-related molecular mechanisms research
- Nutrition, Genetics, and Disease
- Trace Elements in Health
- Prostate Cancer Diagnosis and Treatment
- RNA modifications and cancer
- Renal cell carcinoma treatment
- CRISPR and Genetic Engineering
- Genomic variations and chromosomal abnormalities
- Cancer-related Molecular Pathways
- Heavy Metal Exposure and Toxicity
- Molecular Biology Techniques and Applications
- Selenium in Biological Systems
- Breast Cancer Treatment Studies
- RNA Research and Splicing
- Virus-based gene therapy research
- Genomics and Chromatin Dynamics
International Hereditary Cancer Center
2016-2025
Pomeranian Medical University
2016-2025
Read-Gene (Poland)
2015-2024
Institute of Oncology Research
2024
Hunter Medical Research Institute
2018
Greater Poland Cancer Center
2018
Prostate Cancer UK
2018
University College London
2013-2016
John Wiley & Sons (United States)
2016
Women's College Hospital
2009-2016
Background Defective cellular transport processes can lead to aberrant accumulation of trace elements, iron, small molecules and hormones in the cell, which turn may promote formation reactive oxygen species, promoting DNA damage expression key regulatory cancer genes. As uncontrolled proliferation are hallmarks cancer, including epithelial ovarian (EOC), we hypothesized that inherited variation genes contributes EOC risk. Methods In total, samples were obtained from 14,525 case subjects...
The purposes of this study were to estimate the reduction in risk ovarian, fallopian tube, or peritoneal cancer women with a BRCA1 BRCA2 mutation after oophorectomy, by age oophorectomy; impact prophylactic oophorectomy on all-cause mortality; and 5-year survival associated clinically detected occult, cancers diagnosed cohort.Women identified from an international registry; 5,783 completed baseline questionnaire ≥ one follow-up questionnaires. Women observed until either diagnosis cancer,...
Ten patients with breast cancer and a susceptibility gene 1 (BRCA1) mutation, who presented stages I to III between December 2006 2007, were treated four cycles of neoadjuvant cisplatin, followed by mastectomy conventional chemotherapy.The excised tissue lymph nodes examined for the presence residual disease.Pathologic complete response was observed in nine (90%).Platinum-based chemotherapy appears be effective high proportion BRCA1-associated cancers. Clinical trials are now warranted...
To estimate the risk of breast cancer in a woman who has CHEK2 mutation depending on her family history cancer.Seven thousand four hundred ninety-four BRCA1 mutation-negative patients with and 4,346 control women were genotyped for founder mutations (del5395, IVS2+1G>A, 1100delC, I157T).A truncating (IVS2+1G>A, or del5395) was present 227 (3.0%) 37 female controls (0.8%; odds ratio [OR], 3.6; 95% CI, 2.6 to 5.1). The OR higher first- second-degree relative (OR, 5.0; 3.3 7.6) than no 3.3; 2.3...
Abstract It remains elusive whether some of the associations identified in genome-wide association studies prostate cancer (PrCa) may be due to regulatory effects genetic variants on CpG sites, which further influence expression PrCa target genes. To search for sites associated with risk, here we establish models predict methylation (N = 1,595) and conduct analyses risk (79,194 cases 61,112 controls). We identify 759 showing an association, including 15 located at novel loci. Among those 42...
Mutations in BRCA2 cause a higher risk of early-onset aggressive prostate cancer (PrCa). The IMPACT study is evaluating targeted PrCa screening using prostate-specific-antigen (PSA) men with germline BRCA1/2 mutations.
<h3>Abstract</h3> <h3>Objectives</h3> To develop and validate a genetic tool to predict age of onset aggressive prostate cancer (PCa) guide decisions who screen at what age. <h3>Design</h3> Analysis genotype, PCa status, select single nucleotide polymorphisms (SNPs) associated with diagnosis. These were incorporated into survival analysis estimate their effects on diagnosis (that is, not eligible for surveillance according National Comprehensive Cancer Network guidelines; any Gleason score...
Abstract Breast, ovarian, and prostate cancers are hormone-related may have a shared genetic basis, but this has not been investigated systematically by genome-wide association (GWA) studies. Meta-analyses combining the largest GWA meta-analysis data sets for these totaling 112,349 cases 116,421 controls of European ancestry, all together in pairs, identified at P &lt; 10−8 seven new cross-cancer loci: three associated with susceptibility to (rs17041869/2q13/BCL2L11;...
Magnetic resonance imaging (MRI) surveillance is offered to women with a pathogenic variant in the BRCA1 or BRCA2 gene who face high lifetime risk of breast cancer. Surveillance MRI effective downstaging cancers, but association mortality has not been well defined.
Abstract Introduction The purpose of this investigation was to evaluate the efficacy cisplatin chemotherapy in BRCA1 mutation carriers with metastatic breast cancer. Methods In a phase II, open-label study, 20 patients cancer who carried were treated 75 mg/m 2 intravenously every 3 weeks as part 21-day cycle for 6 cycles. Restaging studies assess response performed after cycles and 6, three months thereafter. Results Between July 2007 January 2009, enrolled. Baseline characteristics follows:...
Abstract Three mutations in BRCA1 (5382insC, C61G and 4153delA) are common Poland account for the majority of identified to date Polish breast breast–ovarian cancer families. It is not known, however, what extent these 3 founder all BRCA distributed throughout country. This question has important implications health policy design epidemiologic studies. To establish relative contributions nonfounder mutations, we established entire spectrum BRCA2 a large set families with origins regions...
Abstract Although genome-wide association studies (GWAS) for prostate cancer (PrCa) have identified more than 100 risk regions, most of the genes at these regions remain largely unknown. Here we integrate largest PrCa GWAS ( N = 142,392) with gene expression measured in 45 tissues 4458), including normal and tumor prostate, to perform a multi-tissue transcriptome-wide study (TWAS) PrCa. We identify 217 84 independent 1 Mb associated risk, 9 which are no significant SNP within 2 Mb. 23 TWAS...