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Autor
Agata, Simona 1 Aittomäki, Kristiina 1 Ambrosone, Christine B 1 Andrulis, Irene L 1 Anton-Culver, Hoda 1 Antoniou, Antonis C 1 Apicella, Carmel 1 Apostolou, Paraskevi 1 Arndt, Volker 1 Arnold, Norbert 1 Arun, Banu K 1 Barkardottir, Rosa B 1 Barrowdale, Daniel 1 Beckmann, Matthias W 1 Beesley, Jonathan 1 Benitez, Javier 1 Blomqvist, Carl 1 Blot, William 1 Bogdanova, Natasha 1 Bogdanova-Markov, Nadja 1
- Organizace
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Pracoviště
Abramson Cancer Center Perelman Schoo... 1 Academic Biochemistry Royal Marsden H... 1 Academic Unit of Pathology Department... 1 Biomedical Network on Rare Diseases M... 1 Biomedical Sciences Institute Porto U... 1 Breast Cancer Research Breakthrough B... 1 Breast Cancer Research Unit Universit... 1 Breast Cancer and Systems Biology Uni... 1 Cancer Center Kuopio University Hospi... 1 Cancer Division QIMR Berghofer Medica... 1 Cancer Epidemiology Centre Cancer Cou... 1 Cancer Research Initiatives Foundatio... 1 Cancer Research Institute Seoul Natio... 1 Cancer Risk and Prevention Clinic Dan... 1 Cancer Science Institute of Singapore... 1 Center for Clinical Cancer Genetics a... 1 Center for Genomic Medicine Rigshospi... 1 Center for Integrated Oncology Univer... 1 Center for Medical Genetics Ghent Uni... 1 Center for Medical Genetics NorthShor... 1
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- Nejvíce citované
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Autor
Agata, Simona 1 Aittomäki, Kristiina 1 Ambrosone, Christine B 1 Andrulis, Irene L 1 Anton-Culver, Hoda 1 Antoniou, Antonis C 1 Apicella, Carmel 1 Apostolou, Paraskevi 1 Arndt, Volker 1 Arnold, Norbert 1 Arun, Banu K 1 Barkardottir, Rosa B 1 Barrowdale, Daniel 1 Beckmann, Matthias W 1 Beesley, Jonathan 1 Benitez, Javier 1 Blomqvist, Carl 1 Blot, William 1 Bogdanova, Natasha 1 Bogdanova-Markov, Nadja 1
- Organizace
-
Pracoviště
Abramson Cancer Center Perelman Schoo... 1 Academic Biochemistry Royal Marsden H... 1 Academic Unit of Pathology Department... 1 Biomedical Network on Rare Diseases M... 1 Biomedical Sciences Institute Porto U... 1 Breast Cancer Research Breakthrough B... 1 Breast Cancer Research Unit Universit... 1 Breast Cancer and Systems Biology Uni... 1 Cancer Center Kuopio University Hospi... 1 Cancer Division QIMR Berghofer Medica... 1 Cancer Epidemiology Centre Cancer Cou... 1 Cancer Research Initiatives Foundatio... 1 Cancer Research Institute Seoul Natio... 1 Cancer Risk and Prevention Clinic Dan... 1 Cancer Science Institute of Singapore... 1 Center for Clinical Cancer Genetics a... 1 Center for Genomic Medicine Rigshospi... 1 Center for Integrated Oncology Univer... 1 Center for Medical Genetics Ghent Uni... 1 Center for Medical Genetics NorthShor... 1
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PubMed
26928228
PubMed Central
PMC4938803
DOI
10.1038/ng.3521
PII: ng.3521
Knihovny.cz E-zdroje
We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each associated with different phenotype sets, including estrogen receptor (ER(+) or ER(-)) and human ERBB2 (HER2(+) or HER2(-)) tumor subtypes, mammographic density and tumor grade. The best candidate causal variants for ER(-) tumors lie in four separate enhancer elements, and their risk alleles reduce expression of ESR1, RMND1 and CCDC170, whereas the risk alleles of the strongest candidates for the remaining independent causal variant disrupt a silencer element and putatively increase ESR1 and RMND1 expression.
- MeSH
- alfa receptor estrogenů genetika metabolismus MeSH
- exprese genu MeSH
- fenotyp MeSH
- genetická predispozice k nemoci MeSH
- genetické asociační studie MeSH
- jednonukleotidový polymorfismus MeSH
- lidé MeSH
- lidské chromozomy, pár 6 genetika MeSH
- nádory prsu genetika metabolismus MeSH
- proteiny buněčného cyklu genetika metabolismus MeSH
- regulace genové exprese u nádorů MeSH
- rizikové faktory MeSH
- sekvence nukleotidů MeSH
- transportní proteiny genetika metabolismus MeSH
- vazba proteinů MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- metaanalýza MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
- Research Support, U.S. Gov't, Non-P.H.S. MeSH
- Názvy látek
- alfa receptor estrogenů MeSH
- CCDC170 protein, human MeSH Prohlížeč
- ESR1 protein, human MeSH Prohlížeč
- proteiny buněčného cyklu MeSH
- RMND1 protein, human MeSH Prohlížeč
- transportní proteiny MeSH
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