Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci. Breast cancer research : BCR Chen, H., Fan, S., Stone, J., Thompson, D. J., Douglas, J., Li, S., Scott, C., Bolla, M. K., Wang, Q., Dennis, J., Michailidou, K., Li, C., Peters, U., Hopper, J. L., Southey, M. C., Nguyen-Dumont, T., Nguyen, T. L., Fasching, P. A., Behrens, A., Cadby, G., Murphy, R. A., Aronson, K., Howell, A., Astley, S., Couch, F., Olson, J., Milne, R. L., Giles, G. G., Haiman, C. A., Maskarinec, G., Winham, S., John, E. M., Kurian, A., Eliassen, H., Andrulis, I., Evans, D. G., Newman, W. G., Hall, P., Czene, K., Swerdlow, A., Jones, M., Pollan, M., Fernandez-Navarro, P., McConnell, D. S., Kristensen, V. N., Rothstein, J. H., Wang, P., Habel, L. A., Sieh, W., Dunning, A. M., Pharoah, P. D., Easton, D. F., Gierach, G. L., Tamimi, R. M., Vachon, C. M., Lindström, S. 2022; 24 (1): 27


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.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.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?

View details for DOI 10.1186/s13058-022-01524-0

View details for PubMedID 35414113