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Autor
Ahearn, Thomas U 1 Aittomäki, Kristiina 1 Andrulis, Irene L 1 Anton-Culver, Hoda 1 Antoniou, Antonis C 1 Arndt, Volker 1 Aronson, Kristan J 1 Arun, Banu K 1 Auer, Paul L 1 Azzollini, Jacopo 1 Barnes, Daniel 1 Barrowdale, Daniel 1 Becher, Heiko 1 Beckmann, Matthias W 1 Beesley, Jonathan 1 Behrens, Sabine 1 Benitez, Javier 1 Bermisheva, Marina 1 Bialkowska, Katarzyna 1 Blanco, Ana 1
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Pracoviště
Academic Unit of Pathology Department... 1 Adult Cancer Program Lowy Cancer Rese... 1 Behavioral and Epidemiology Research ... 1 Bioscience Department Faculty of Medi... 1 Biostatistics and Computational Biolo... 1 Cancer Epidemiology Division Cancer C... 1 Cancer Epidemiology Division Cancer C... 1 Cancer Genetics and Prevention Progra... 1 Cancer Prevention Program Fred Hutchi... 1 Cancer Prevention Program Fred Hutchi... 1 Cancer Risk and Prevention Clinic Dan... 1 Cancer Sciences Academic Unit Faculty... 1 Cancer and Environment Group Center f... 1 Center for Bioinformatics and Functio... 1 Center for Clinical Cancer Genetics T... 1 Center for Familial Breast and Ovaria... 1 Center for Genomic Medicine Rigshospi... 1 Center for Medical Genetics NorthShor... 1 Centre for Cancer Genetic Epidemiolog... 1 Centre for Cancer Genetic Epidemiolog... 1
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Autor
Ahearn, Thomas U 1 Aittomäki, Kristiina 1 Andrulis, Irene L 1 Anton-Culver, Hoda 1 Antoniou, Antonis C 1 Arndt, Volker 1 Aronson, Kristan J 1 Arun, Banu K 1 Auer, Paul L 1 Azzollini, Jacopo 1 Barnes, Daniel 1 Barrowdale, Daniel 1 Becher, Heiko 1 Beckmann, Matthias W 1 Beesley, Jonathan 1 Behrens, Sabine 1 Benitez, Javier 1 Bermisheva, Marina 1 Bialkowska, Katarzyna 1 Blanco, Ana 1
- Organizace
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Pracoviště
Academic Unit of Pathology Department... 1 Adult Cancer Program Lowy Cancer Rese... 1 Behavioral and Epidemiology Research ... 1 Bioscience Department Faculty of Medi... 1 Biostatistics and Computational Biolo... 1 Cancer Epidemiology Division Cancer C... 1 Cancer Epidemiology Division Cancer C... 1 Cancer Genetics and Prevention Progra... 1 Cancer Prevention Program Fred Hutchi... 1 Cancer Prevention Program Fred Hutchi... 1 Cancer Risk and Prevention Clinic Dan... 1 Cancer Sciences Academic Unit Faculty... 1 Cancer and Environment Group Center f... 1 Center for Bioinformatics and Functio... 1 Center for Clinical Cancer Genetics T... 1 Center for Familial Breast and Ovaria... 1 Center for Genomic Medicine Rigshospi... 1 Center for Medical Genetics NorthShor... 1 Centre for Cancer Genetic Epidemiolog... 1 Centre for Cancer Genetic Epidemiolog... 1
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Health & Medicine (ProQuest) od 2000-01-01 do Před 1 rokem
Public Health Database (ProQuest) od 2000-01-01 do Před 1 rokem
PubMed
32424353
DOI
10.1038/s41588-020-0609-2
Knihovny.cz E-zdroje
Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype1-3. To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BRCA1 mutation carriers (9,414 with breast cancer) of European ancestry, using both standard and novel methodologies that account for underlying tumor heterogeneity by estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade. We identified 32 novel susceptibility loci (P < 5.0 × 10-8), 15 of which showed evidence for associations with at least one tumor feature (false discovery rate < 0.05). Five loci showed associations (P < 0.05) in opposite directions between luminal and non-luminal subtypes. In silico analyses showed that these five loci contained cell-specific enhancers that differed between normal luminal and basal mammary cells. The genetic correlations between five intrinsic-like subtypes ranged from 0.35 to 0.80. The proportion of genome-wide chip heritability explained by all known susceptibility loci was 54.2% for luminal A-like disease and 37.6% for triple-negative disease. The odds ratios of polygenic risk scores, which included 330 variants, for the highest 1% of quantiles compared with middle quantiles were 5.63 and 3.02 for luminal A-like and triple-negative disease, respectively. These findings provide an improved understanding of genetic predisposition to breast cancer subtypes and will inform the development of subtype-specific polygenic risk scores.
- MeSH
- celogenomová asociační studie * MeSH
- genetická predispozice k nemoci MeSH
- lidé MeSH
- mutace MeSH
- nádory prsu genetika patologie MeSH
- protein BRCA1 genetika MeSH
- studie případů a kontrol MeSH
- triple-negativní karcinom prsu genetika patologie MeSH
- vazebná nerovnováha MeSH
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- 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, N.I.H., Intramural MeSH
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