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Autor
Abbosh, Philip H 1 Abedi-Ardekani, Behnoush 1 Abreu, Diego 1 Adeyoju, Adebanji 1 Anderson, Kyra 1 Antwi, Samuel O 1 Arciero, Cletus 1 Ball, Colleen T 1 Banks, Rosamonde E 1 Bernhard, Jean-Christophe 1 Bezerra, Stephania M 1 Bigot, Pierre 1 Bilen, Mehmet A 1 Blanchet, Odile 1 Brennan, Paul 1 Bromage, Stephen 1 Brown, Kevin M 1 Carraro, Dirce M 1 Carusso, Florencia 1 Chanock, Stephen J 1
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Analytic and Translational Genetics U... 1 Biobank Bordeaux Biothèque Santé CHU ... 1 Biobank Resource Centre CHU Angers An... 1 Biosample Repository Fox Chase Cancer... 1 Booz Allen Hamilton Inc McLean VA USA 1 Broad Institute of MIT and Harvard Bo... 1 Cancer Genomics Research Laboratory F... 1 Cancer Signaling and Microenvironment... 1 Center for Functional Cancer Epigenet... 1 Clinic of Nephrology Faculty of Medic... 1 Clinical and Functional Genomics Grou... 1 Dana Farber Cancer Institute Boston M... 1 Departament of Medical Image Hematolo... 1 Department of Cancer Epidemiology and... 1 Department of Clinical Epidemiology N... 1 Department of Epidemiology Division o... 1 Department of Hematology and Medical ... 1 Department of Medical Oncology Barret... 1 Department of Medical Oncology Dana F... 1 Department of Medical Oncology Royal ... 1
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Autor
Abbosh, Philip H 1 Abedi-Ardekani, Behnoush 1 Abreu, Diego 1 Adeyoju, Adebanji 1 Anderson, Kyra 1 Antwi, Samuel O 1 Arciero, Cletus 1 Ball, Colleen T 1 Banks, Rosamonde E 1 Bernhard, Jean-Christophe 1 Bezerra, Stephania M 1 Bigot, Pierre 1 Bilen, Mehmet A 1 Blanchet, Odile 1 Brennan, Paul 1 Bromage, Stephen 1 Brown, Kevin M 1 Carraro, Dirce M 1 Carusso, Florencia 1 Chanock, Stephen J 1
- Organizace
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Pracoviště
Analytic and Translational Genetics U... 1 Biobank Bordeaux Biothèque Santé CHU ... 1 Biobank Resource Centre CHU Angers An... 1 Biosample Repository Fox Chase Cancer... 1 Booz Allen Hamilton Inc McLean VA USA 1 Broad Institute of MIT and Harvard Bo... 1 Cancer Genomics Research Laboratory F... 1 Cancer Signaling and Microenvironment... 1 Center for Functional Cancer Epigenet... 1 Clinic of Nephrology Faculty of Medic... 1 Clinical and Functional Genomics Grou... 1 Dana Farber Cancer Institute Boston M... 1 Departament of Medical Image Hematolo... 1 Department of Cancer Epidemiology and... 1 Department of Clinical Epidemiology N... 1 Department of Epidemiology Division o... 1 Department of Hematology and Medical ... 1 Department of Medical Oncology Barret... 1 Department of Medical Oncology Dana F... 1 Department of Medical Oncology Royal ... 1
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Here, in a multi-ancestry genome-wide association study meta-analysis of kidney cancer (29,020 cases and 835,670 controls), we identified 63 susceptibility regions (50 novel) containing 108 independent risk loci. In analyses stratified by subtype, 52 regions (78 loci) were associated with clear cell renal cell carcinoma (RCC) and 6 regions (7 loci) with papillary RCC. Notably, we report a variant common in African ancestry individuals ( rs7629500 ) in the 3' untranslated region of VHL, nearly tripling clear cell RCC risk (odds ratio 2.72, 95% confidence interval 2.23-3.30). In cis-expression quantitative trait locus analyses, 48 variants from 34 regions point toward 83 candidate genes. Enrichment of hypoxia-inducible factor-binding sites underscores the importance of hypoxia-related mechanisms in kidney cancer. Our results advance understanding of the genetic architecture of kidney cancer, provide clues for functional investigation and enable generation of a validated polygenic risk score with an estimated area under the curve of 0.65 (0.74 including risk factors) among European ancestry individuals.
- MeSH
- běloši genetika MeSH
- celogenomová asociační studie * MeSH
- genetická predispozice k nemoci * MeSH
- jednonukleotidový polymorfismus * MeSH
- karcinom z renálních buněk * genetika MeSH
- lidé MeSH
- lokus kvantitativního znaku * MeSH
- nádorový supresorový protein VHL genetika MeSH
- nádory ledvin * genetika MeSH
- studie případů a kontrol MeSH
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- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- metaanalýza MeSH
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