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Autor
Agata, Simona 1 Aittomäki, Kristiina 1 Allen, Jamie 1 Alonso, M Rosario 1 Andrulis, Irene L 1 Anton-Culver, Hoda 1 Antonenkova, Natalia N 1 Antoniou, Antonis C 1 Arason, Adalgeir 1 Arndt, Volker 1 Aronson, Kristan J 1 Arun, Banu K 1 Aschard, Hugues 1 Auber, Bernd 1 Auer, Paul L 1 Azzollini, Jacopo 1 Balmaña, Judith 1 Barkardottir, Rosa B 1 Barnes, Daniel R 1 Barrowdale, Daniel 1
- Organizace
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Pracoviště
Academic Unit of Pathology Department... 1 Anatomical Pathology The Alfred Hospi... 1 Axe Oncologie Centre de Recherche Cen... 1 Basser Center for BRCA Abramson Cance... 1 Behavioral and Epidemiology Research ... 1 Biostatistics and Computational Biolo... 1 Breast Cancer Now Toby Robins Researc... 1 Breast Cancer Research Programme Canc... 1 Cancer Epidemiology Group University ... 1 Cancer Genetics and Prevention Progra... 1 Cancer Prevention Program Fred Hutchi... 1 Cancer Prevention Program Fred Hutchi... 1 Cancer Research UK Cambridge Institut... 1 Cancer Research UK Clinical Trials Un... 1 Cancer Risk and Prevention Clinic Dan... 1 Cancer and Environment Group Center f... 1 Center for Clinical Cancer Genetics T... 1 Center for Genomic Medicine at Rigsho... 1 Center for Hereditary Breast and Ovar... 1 Center for Medical Genetics NorthShor... 1
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- Vlastník
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Autor
Agata, Simona 1 Aittomäki, Kristiina 1 Allen, Jamie 1 Alonso, M Rosario 1 Andrulis, Irene L 1 Anton-Culver, Hoda 1 Antonenkova, Natalia N 1 Antoniou, Antonis C 1 Arason, Adalgeir 1 Arndt, Volker 1 Aronson, Kristan J 1 Arun, Banu K 1 Aschard, Hugues 1 Auber, Bernd 1 Auer, Paul L 1 Azzollini, Jacopo 1 Balmaña, Judith 1 Barkardottir, Rosa B 1 Barnes, Daniel R 1 Barrowdale, Daniel 1
- Organizace
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Pracoviště
Academic Unit of Pathology Department... 1 Anatomical Pathology The Alfred Hospi... 1 Axe Oncologie Centre de Recherche Cen... 1 Basser Center for BRCA Abramson Cance... 1 Behavioral and Epidemiology Research ... 1 Biostatistics and Computational Biolo... 1 Breast Cancer Now Toby Robins Researc... 1 Breast Cancer Research Programme Canc... 1 Cancer Epidemiology Group University ... 1 Cancer Genetics and Prevention Progra... 1 Cancer Prevention Program Fred Hutchi... 1 Cancer Prevention Program Fred Hutchi... 1 Cancer Research UK Cambridge Institut... 1 Cancer Research UK Clinical Trials Un... 1 Cancer Risk and Prevention Clinic Dan... 1 Cancer and Environment Group Center f... 1 Center for Clinical Cancer Genetics T... 1 Center for Genomic Medicine at Rigsho... 1 Center for Hereditary Breast and Ovar... 1 Center for Medical Genetics NorthShor... 1
- Formát
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- Země
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- Vlastník
- Fachal, Laura
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Aschard, Hugues
Autor Aschard, Hugues Centre de Bioinformatique Biostatistique et Biologie Intégrative (C3BI), Institut Pasteur, Paris, France. Program in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, Boston, MA, USA. Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA
- Beesley, Jonathan
- Barnes, Daniel R
- Allen, Jamie
- Kar, Siddhartha
- Pooley, Karen A
- Dennis, Joe
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Michailidou, Kyriaki
Autor Michailidou, Kyriaki Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. Department of Electron Microscopy/Molecular Pathology and The Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
- Turman, Constance
Health & Medicine (ProQuest) od 2000-01-01 do Před 1 rokem
Public Health Database (ProQuest) od 2000-01-01 do Před 1 rokem
PubMed
31911677
DOI
10.1038/s41588-019-0537-1
Knihovny.cz E-zdroje
Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association analysis with in silico genomic feature annotations. We defined 205 independent risk-associated signals with the set of credible causal variants in each one. In parallel, we used a Bayesian approach (PAINTOR) that combines genetic association, linkage disequilibrium and enriched genomic features to determine variants with high posterior probabilities of being causal. Potentially causal variants were significantly over-represented in active gene regulatory regions and transcription factor binding sites. We applied our INQUSIT pipeline for prioritizing genes as targets of those potentially causal variants, using gene expression (expression quantitative trait loci), chromatin interaction and functional annotations. Known cancer drivers, transcription factors and genes in the developmental, apoptosis, immune system and DNA integrity checkpoint gene ontology pathways were over-represented among the highest-confidence target genes.
- MeSH
- Bayesova věta MeSH
- celogenomová asociační studie * MeSH
- genetická predispozice k nemoci * MeSH
- jednonukleotidový polymorfismus * MeSH
- lidé MeSH
- lokus kvantitativního znaku * MeSH
- mapování chromozomů metody MeSH
- nádorové biomarkery genetika MeSH
- nádory prsu genetika MeSH
- regulační oblasti nukleových kyselin MeSH
- rizikové faktory MeSH
- vazebná nerovnováha MeSH
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- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
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