Anna Jakubowska
- BRCA gene mutations in cancer
- Ovarian cancer diagnosis and treatment
- Genetic Associations and Epidemiology
- Genetic factors in colorectal cancer
- Nutrition, Genetics, and Disease
- Cancer Genomics and Diagnostics
- DNA Repair Mechanisms
- Genomic variations and chromosomal abnormalities
- CRISPR and Genetic Engineering
- RNA modifications and cancer
- Trace Elements in Health
- Selenium in Biological Systems
- PARP inhibition in cancer therapy
- Breast Cancer Treatment Studies
- Genomics and Chromatin Dynamics
- Cancer-related molecular mechanisms research
- Heavy Metal Exposure and Toxicity
- Bioinformatics and Genomic Networks
- Estrogen and related hormone effects
- Cancer Risks and Factors
- Epigenetics and DNA Methylation
- Genetics, Bioinformatics, and Biomedical Research
- Cancer-related Molecular Pathways
- Molecular Biology Techniques and Applications
- Virus-based gene therapy research
Pomeranian Medical University
2016-2025
International Hereditary Cancer Center
2015-2024
Medical University of Silesia
2024
University of Economics in Katowice
2024
Wienerberger (Czechia)
2024
University of Zielona Góra
2022
Cancer Research Center
2010-2021
Carrier (United States)
2021
Cohort (United Kingdom)
2021
University of Manchester
2021
<h3>Importance</h3> The clinical management of<i>BRCA1</i>and<i>BRCA2</i>mutation carriers requires accurate, prospective cancer risk estimates. <h3>Objectives</h3> To estimate age-specific risks of breast, ovarian, and contralateral breast for mutation to evaluate modification by family history location. <h3>Design, Setting, Participants</h3> Prospective cohort study 6036<i>BRCA1</i>and 3820<i>BRCA2</i>female (5046 unaffected 4810 with or ovarian both at baseline) recruited in 1997-2011...
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...
Genetic testing for breast cancer susceptibility is widely used, but many genes, evidence of an association with weak, underlying risk estimates are imprecise, and reliable subtype-specific lacking.
Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 the risk of female cancer rs1314913 male cancer. The aim this study was investigate role RAD51B variants in predisposition, particularly context familial Finland. We sequenced coding region 168 Finnish patients from Helsinki for identification possible recurrent founder mutations. In addition, we studied known rs999737, rs2588809, SNPs haplotypes 44,791 cases 43,583 controls 40...
Data for multiple common susceptibility alleles breast cancer may be combined to identify women at different levels of risk. Such stratification could guide preventive and screening strategies. However, empirical evidence genetic risk is lacking. We investigated the value using 77 cancer-associated single nucleotide polymorphisms (SNPs) stratification, in a study 33 673 cases 381 control European origin. tested all possible pair-wise multiplicative interactions constructed 77-SNP polygenic...
BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with 1,839 cancer), replication in an additional sample 2,646 carriers. We identified novel risk modifier locus at 1q32 for (rs2290854, P = 2.7×10−8, HR 1.14, 95% CI: 1.09–1.20). In addition, two loci: 17q21.31 (rs17631303, 1.4×10−8, 1.27, 1.17–1.38) 4q32.3 (rs4691139,...
The aim of this study was to estimate the contribution deleterious mutations in RAD51B, RAD51C, and RAD51D genes invasive epithelial ovarian cancer (EOC) population a screening trial individuals at high risk cancer.
Observational epidemiological studies have shown that high body mass index (BMI) is associated with a reduced risk of breast cancer in premenopausal women but an increased postmenopausal women. It unclear whether this association mediated through shared genetic or environmental factors.
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...
Rare germline genetic variants in several genes are associated with increased breast cancer (BC) risk, but their precise contributions to different disease subtypes unclear. This information is relevant guidelines for gene panel testing and risk prediction.To characterize tumors BC susceptibility large-scale population- or hospital-based studies.The multicenter, international case-control analysis of the BRIDGES study included 42 680 patients 46 387 control participants, comprising women...
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...
Differentiated mammary epithelium shows apicobasal polarity, and loss of tissue organization is an early hallmark breast carcinogenesis. In BRCA1 mutation carriers, accumulation stem progenitor cells in normal increased risk developing tumors basal-like type suggest that regulates stem/progenitor cell proliferation differentiation. However, the function this process its link to carcinogenesis remain unknown. Here we depict a molecular mechanism involving RHAMM polarity and, when perturbed,...
Abstract The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of for BRCA1 or BRCA2 mutation carriers. We evaluated the associations 3 additional single nucleotide (SNPs), rs4973768 SLC4A7/NEK10, rs6504950 STXBP4/COX11, rs10941679 at 5p12, reanalyzed previous using carriers a sample 12,525 7,409 Additionally, we investigated potential interactions between SNPs assessed implications risk prediction. minor alleles were...
CHEK2*1100delC is a well-established breast cancer risk variant that most prevalent in European populations; however, there are limited data on of by age and tumor subtype, which limits its usefulness prediction. We aimed to generate subtype- age-specific estimates using from the Breast Cancer Association Consortium, including 44,777 patients with 42,997 controls 33 studies genotyped for CHEK2*1100delC.
To determine whether adjuvant tamoxifen treatment for breast cancer (BC) is associated with reduced contralateral (CBC) risk BRCA1 and/or BRCA2 mutation carriers.Analysis of pooled observational cohort data, self-reported at enrollment and follow-up from the International BRCA1, Carrier Cohort Study, Kathleen Cuningham Foundation Consortium Research into Familial Breast Cancer, Cancer Family Registry. Eligible women were carriers diagnosed unilateral BC since 1970 no other invasive or use...