1. Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci
- Author
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Chen, Hongjie, Fan, Shaoqi, Stone, Jennifer, Thompson, Deborah J, Douglas, Julie, Li, Shuai, Scott, Christopher, Bolla, Manjeet K, Wang, Qin, Dennis, Joseph, Michailidou, Kyriaki, Li, Christopher, Peters, Ulrike, Hopper, John L, Southey, Melissa C, Nguyen-Dumont, Tu, Nguyen, Tuong L, Fasching, Peter A, Behrens, Annika, Cadby, Gemma, Murphy, Rachel A, Aronson, Kristan, Howell, Anthony, Astley, Susan, Couch, Fergus, Olson, Janet, Milne, Roger L, Giles, Graham G, Haiman, Christopher A, Maskarinec, Gertraud, Winham, Stacey, John, Esther M, Kurian, Allison, Eliassen, Heather, Andrulis, Irene, Evans, D Gareth, Newman, William G, Hall, Per, Czene, Kamila, Swerdlow, Anthony, Jones, Michael, Pollan, Marina, Fernandez-Navarro, Pablo, McConnell, Daniel S, Kristensen, Vessela N, NBCS Investigators, Rothstein, Joseph H, Wang, Pei, Habel, Laurel A, Sieh, Weiva, Dunning, Alison M, Pharoah, Paul, Easton, Douglas F, Gierach, Gretchen L, Tamimi, Rulla M, Vachon, Celine M, Lindström, Sara, Unión Europea. Comisión Europea. H2020, Canadian Institutes of Health Research, Quebec Breast Cancer Foundation, Government of Quebec (Canadá), National Institutes of Health (Estados Unidos), Unión Europea. Comisión Europea. 7 Programa Marco, Cancer Research UK (Reino Unido), Susan G. Komen Breast Cancer Foundation, Ovarian Cancer Research Foundation (Astrualia), Australian Breast Cancer Family Study, NIH - National Cancer Institute (NCI) (Estados Unidos), National Health and Medical Research Council (Australia), New South Wales Cancer Council (Reino Unido), Victorian Health Promotion Foundation, Victorian Cancer Agency, National Breast Cancer Foundation (Australia), Cancer Australia, Universitätsklinikum Erlangen (Alemania), Cancer Council Western Australia (Australia), Consorcio Gallego de Cáncer de Mama (BREOGAN), Instituto de Salud Carlos III, Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF), Galicia Sur Biomedical Foundation, Xunta de Galicia (España), Ministerio de Sanidad, Servicios Sociales e Igualdad (España), Ministerio de Economía y Competitividad (España), Canadian Cancer Society, NIHR - Manchester Biomedical Research Center, Cancer Council Queensland (Australia), Cancer Council New South Wales (Australia), Cancer Council Victoria (Australia), Cancer Council Tasmania (Australia), Cancer Council South (Australia), United States Army Medical Research and Development Command, NIH - NCI-Specialized Programs of Research Excellence (SPORE) in Breast Cancer (Estados Unidos), The Research Council of Norway (Noruega), Southern and Eastern Norway Regional Health Authority (Noruega), Norwegian Cancer Society, Agency for Science, Technology and Research (Singapur), Institute of Cancer Research (Reino Unido), NIHR - Biomedical Research Centre (Reino Unido), Dennis, Joseph [0000-0003-4591-1214], Pharoah, Paul [0000-0001-8494-732X], Lindström, Sara [0000-0002-7137-7281], and Apollo - University of Cambridge Repository
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Genome-wide association study (GWAS) ,Manchester Cancer Research Centre ,ResearchInstitutes_Networks_Beacons/mcrc ,Breast Neoplasms ,Polymorphism, Single Nucleotide ,Breast cancer ,Phenotype ,Humans ,Female ,Genetic Predisposition to Disease ,ddc:610 ,Transcriptome ,Mammographic density ,Research Article ,Transcriptome-wide association study (TWAS) ,Breast Density ,Genome-Wide Association Study - Abstract
Background: Mammographic density (MD) phenotypes, including percent density (PMD), area of dense tissue (DA), and area of non-dense tissue (NDA), are associated with breast cancer risk. Twin studies suggest that MD phenotypes are highly heritable. However, only a small proportion of their variance is explained by identified genetic variants. Methods: We conducted a genome-wide association study, as well as a transcriptome-wide association study (TWAS), of age- and BMI-adjusted DA, NDA, and PMD in up to 27,900 European-ancestry women from the MODE/BCAC consortia. Results: We identified 28 genome-wide significant loci for MD phenotypes, including nine novel signals (5q11.2, 5q14.1, 5q31.1, 5q33.3, 5q35.1, 7p11.2, 8q24.13, 12p11.2, 16q12.2). Further, 45% of all known breast cancer SNPs were associated with at least one MD phenotype at p
- Published
- 2022
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