Search Results - "Closas, Montserrat García"
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A framework for transcriptome-wide association studies in breast cancer in diverse study populations
Published in Genome Biology (20-02-2020)“…The relationship between germline genetic variation and breast cancer survival is largely unknown, especially in understudied minority populations who often…”
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2
The case for increasing diversity in tissue-based functional genomics datasets to understand human disease susceptibility
Published in Nature communications (25-05-2022)“…Tissue-based functional genomics resources including molecular quantitative trait loci datasets lack diversity in ancestry and tissue types and thus are…”
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3
Differences in Risk Factors for Breast Cancer Molecular Subtypes in a Population-Based Study
Published in Cancer epidemiology, biomarkers & prevention (01-03-2007)“…Analysis of gene expression data suggests that breast cancers are divisible into molecular subtypes which have distinct clinical features. This study evaluates…”
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4
A mixed-model approach for powerful testing of genetic associations with cancer risk incorporating tumor characteristics
Published in Biostatistics (Oxford, England) (13-10-2021)“…Cancers are routinely classified into subtypes according to various features, including histopathological characteristics and molecular markers. Previous…”
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5
Evaluation of associations between genetically predicted circulating protein biomarkers and breast cancer risk
Published in International journal of cancer (15-04-2020)“…A small number of circulating proteins have been reported to be associated with breast cancer risk, with inconsistent results. Herein, we attempted to identify…”
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6
Developing and evaluating polygenic risk prediction models for stratified disease prevention
Published in Nature reviews. Genetics (01-07-2016)“…Key Points Evaluation of the utility of genetic risk assessment for disease prevention requires the development of models incorporating both genetic and…”
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7
Genetic and non-genetic predictors of LINE-1 methylation in leukocyte DNA
Published in Environmental health perspectives (01-06-2013)“…Altered DNA methylation has been associated with various diseases. We evaluated the association between levels of methylation in leukocyte DNA at long…”
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8
Genomic DNA hypomethylation as a biomarker for bladder cancer susceptibility in the Spanish Bladder Cancer Study: a case–control study
Published in The lancet oncology (01-04-2008)“…Summary Background DNA hypomethylation has been suggested to cause genomic instability and increase cancer risk. We aimed to test the hypothesis that DNA…”
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9
Quest markup for developing FAIR questionnaire modules for epidemiologic studies
Published in BMC medical informatics and decision making (25-10-2023)“…Abstract Background Online questionnaires are commonly used to collect information from participants in epidemiological studies. This requires building…”
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10
Detectible mosaic truncating PPM1D mutations, age and breast cancer risk
Published in Journal of human genetics (01-06-2019)“…Mosaic protein truncating variants (PTVs) in the phosphatase, Mg2+/Mn2+dependent 1D (PPM1D) gene in blood-derived DNA have been associated with increased risk…”
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11
Genetic Variation in the Nucleotide Excision Repair Pathway and Bladder Cancer Risk
Published in Cancer epidemiology, biomarkers & prevention (01-03-2006)“…Nucleotide excision repair (NER) is critical for protecting against damage from carcinogens in tobacco smoke. We evaluated the influence of common genetic…”
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12
A single nucleotide polymorphism tags variation in the arylamine N-acetyltransferase 2 phenotype in populations of European background
Published in Pharmacogenetics and genomics (01-04-2011)“…The arylamine N-acetyltransferase 2 (NAT2) slow acetylation phenotype is an established risk factor for urinary bladder cancer. We reported earlier on this…”
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Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study
Published in Human mutation (01-02-2011)“…High-throughput single nucleotide polymorphism (SNP)-array technologies allow to investigate copy number variants (CNVs) in genome-wide scans and specific…”
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14
Food, nutrient and heterocyclic amine intake and the risk of bladder cancer
Published in European journal of cancer (1990) (01-07-2007)“…Abstract Fruit and vegetable intake has been linked to bladder cancer risk; however, evidence for other foods or specific dietary factors is inconclusive. The…”
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15
Application of multi-SNP approaches Bayesian LASSO and AUC-RF to detect main effects of inflammatory-gene variants associated with bladder cancer risk
Published in PloS one (31-12-2013)“…The relationship between inflammation and cancer is well established in several tumor types, including bladder cancer. We performed an association study…”
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16
Genetic variation in the TP53 pathway and bladder cancer risk. a comprehensive analysis
Published in PloS one (12-05-2014)“…Germline variants in TP63 have been consistently associated with several tumors, including bladder cancer, indicating the importance of TP53 pathway in cancer…”
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17
Risk of Bladder Cancer Associated with Family History of Cancer: Do Low-Penetrance Polymorphisms Account for the Increase in Risk?
Published in Cancer epidemiology, biomarkers & prevention (01-08-2007)“…The relationship between family history of cancer in first-degree relatives and risk of bladder cancer was examined in the Spanish Bladder Cancer Study…”
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18
Large-scale evaluation of candidate genes identifies associations between VEGF polymorphisms and bladder cancer risk
Published in PLoS genetics (01-02-2007)“…Common genetic variation could alter the risk for developing bladder cancer. We conducted a large-scale evaluation of single nucleotide polymorphisms (SNPs) in…”
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19
Evaluation of genetic variation in the double-strand break repair pathway and bladder cancer risk
Published in Carcinogenesis (New York) (01-08-2007)“…The double-strand break DNA repair (DSBR) pathway is implicated in maintaining genomic stability and therefore could affect bladder cancer risk. Here we…”
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Urinary pH, cigarette smoking and bladder cancer risk
Published in Carcinogenesis (New York) (01-06-2011)“…Glucuronide conjugates of 4-aminobiphenyl and its N-hydroxy metabolite can be rapidly hydrolyzed in acidic urine to undergo further metabolic activation and…”
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