2026-08-29T20:41:57Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/148682024-10-31T11:46:25Zcom_20.500.12105_2052com_20.500.12105_2051col_20.500.12105_19608

00925njm 22002777a 4500 dc Chen, Hongjie author Fan, Shaoqi author Stone, Jennifer author Thompson, Deborah J author Douglas, Julie author Li, Shuai author Scott, Christopher author Bolla, Manjeet K author Wang, Qin author Dennis, Joe author Michailidou, Kyriaki author Li, Christopher author Peters, Ulrike author Hopper, John L author Southey, Melissa C author Nguyen-Dumont, Tu author Nguyen, Tuong L author Fasching, Peter A author Behrens, Annika author Cadby, Gemma author Murphy, Rachel A author Aronson, Kristan author Howell, Anthony author Astley, Susan author Couch, Fergus author Olson, Janet author Milne, Roger L author Giles, Graham G author Haiman, Christopher A author Maskarinec, Gertraud author Winham, Stacey author John, Esther M author Kurian, Allison author Eliassen, Heather author Andrulis, Irene author Evans, D Gareth author Newman, William G author Hall, Per author Czene, Kamila author Swerdlow, Anthony author Jones, Michael author Pollan-Santamaria, Marina author Fernandez-Navarro, Pablo L author McConnell, Daniel S author Kristensen, Vessela N author Rothstein, Joseph H author Wang, Pei author Habel, Laurel A author Sieh, Weiva author Dunning, Alison M author Pharoah, Paul D P author Easton, Douglas F author Gierach, Gretchen L author Tamimi, Rulla M author Vachon, Celine M author Lindström, Sara author 2022-04-12 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 < 0.05. TWAS further identified two novel genes (SHOX2 and CRISPLD2) whose genetically predicted expression was significantly associated with MD phenotypes. Conclusions: Our findings provided novel insight into the genetic background of MD phenotypes, and further demonstrated their shared genetic basis with breast cancer. Breast Cancer Res. 2022 Apr 12;24(1):27. 10.1186/s13058-022-01524-0 1465-542X Breast Cancer Research : BCR 35414113 http://hdl.handle.net/20.500.12105/14868 Breast cancer Genome-wide association study (GWAS) Mammographic density Transcriptome-wide association study (TWAS) Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci