Marina Bermisheva
- BRCA gene mutations in cancer
- Genetic Associations and Epidemiology
- Forensic and Genetic Research
- Estrogen and related hormone effects
- Yersinia bacterium, plague, ectoparasites research
- Genetic factors in colorectal cancer
- Linguistics and Cultural Studies
- Cancer Genomics and Diagnostics
- HER2/EGFR in Cancer Research
- DNA Repair Mechanisms
- Genetic diversity and population structure
- Gene expression and cancer classification
- Bioinformatics and Genomic Networks
- Ovarian cancer diagnosis and treatment
- Genomic variations and chromosomal abnormalities
- Cytokine Signaling Pathways and Interactions
- Nutrition, Genetics, and Disease
- Cancer-related molecular mechanisms research
- Forensic Anthropology and Bioarchaeology Studies
- Genomics and Rare Diseases
- Cancer-related Molecular Pathways
- Breast Cancer Treatment Studies
- Genomics and Chromatin Dynamics
- MicroRNA in disease regulation
- Cancer Risks and Factors
Ufa Institute of Chemistry
2019-2024
St Petersburg University
2019-2024
Institute of Biochemistry and Genetics of Ufa Scientific Centre
2007-2022
University of Manchester
2021
St Mary's Hospital
2021
Edinburgh Cancer Research
2021
Cancer Research Center
2021
Russian Academy of Sciences
2005-2020
Medizinische Hochschule Hannover
2009-2018
University of Tartu
2004-2018
Stratification of women according to their risk breast cancer based on polygenic scores (PRSs) could improve screening and prevention strategies. Our aim was develop PRSs, optimized for prediction estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset empirically validate PRSs in prospective studies. The development comprised 94,075 case subjects 75,017 control European ancestry 69 studies, divided into training validation sets. Samples were...
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.
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...
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.
Abstract Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood spleen. Using expression quantitative trait loci (eQTL) reported these identify 26 previously unreported, likely target genes of overall risk variants, 17 for estrogen receptor (ER)-negative cancer, several with a known function. We...
The genetic origins of Uralic speakers from across a vast territory in the temperate zone North Eurasia have remained elusive. Previous studies shown contrasting proportions Eastern and Western Eurasian ancestry their mitochondrial Y chromosomal gene pools. While maternal lineages reflect by large geographic background given Uralic-speaking population, frequency chromosomes origin is distinctively high among European speakers. autosomal variation speakers, however, has not yet been studied...
Abstract Background In addition to the established association between general obesity and breast cancer risk, central circulating fasting insulin glucose have been linked development of this common malignancy. Findings from previous studies, however, inconsistent, nature associations is unclear. Methods We conducted Mendelian randomization analyses evaluate using genetic instruments, with insulin, glucose, 2-h body mass index (BMI) BMI-adjusted waist-hip-ratio (WHRadj BMI). first confirmed...
Physical inactivity and sedentary behaviour are associated with higher breast cancer risk in observational studies, but ascribing causality is difficult. Mendelian randomisation (MR) assesses by simulating randomised trial groups using genotype. We assessed whether lifelong physical activity or time, genotype, may be causally overall, pre/post-menopause, case-groups defined tumour characteristics.
Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effects in models could predictive performance over standard approaches PRS construction. Here, we implemented computationally efficient, penalized, logistic regression (lasso, elastic net, stepwise) individual level genotype data and a Bayesian framework with continuous shrinkage, "select shrink summary statistics" (S4),...
Protein truncating variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2 are associated with increased breast cancer risk, but risks missense these genes uncertain. We analyzed data on 59,639 cases 53,165 controls from studies participating the Breast Cancer Association Consortium BRIDGES project. sampled training (80%) validation (20%) sets to analyze rare ATM (1146 variants), BRCA1 (644), BRCA2 (1425), CHEK2 (325), (472). evaluated according five silico prediction-of-deleteriousness algorithms,...
BackgroundA recent genome-wide association study identified single-nucleotide polymorphism (SNP) 2q35-rs13387042 as a marker of susceptibility to estrogen receptor (ER)–positive breast cancer. We attempted confirm this using the Breast Cancer Association Consortium.
A genome-wide association study (GWAS) identified single-nucleotide polymorphisms (SNPs) at 1p11.2 and 14q24.1 (RAD51L1) as breast cancer susceptibility loci. The initial GWAS suggested stronger effects for both loci estrogen receptor (ER)-positive tumors. Using data from the Breast Cancer Association Consortium (BCAC), we sought to determine whether risks differ by ER, progesterone (PR), human epidermal growth factor 2 (HER2), grade, node status, tumor size, ductal or lobular morphology. We...