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Mammographic density reflects the amount of stromal and epithelial tissues in relation to adipose tissue in the breast and is a strong risk factor for breast cancer. Here we report the results from meta-analysis of genome-wide association studies (GWAS) of three mammographic density phenotypes: dense area, non-dense area and percent density in up to 7,916 women in stage 1 and an additional 10,379 women in stage 2. We identify genome-wide significant (P<5 × 10(-8)) loci for dense area (AREG, ESR1, ZNF365, LSP1/TNNT3, IGF1, TMEM184B and SGSM3/MKL1), non-dense area (8p11.23) and percent density (PRDM6, 8p11.23 and TMEM184B). Four of these regions are known breast cancer susceptibility loci, and four additional regions were found to be associated with breast cancer (P<0.05) in a large meta-analysis. These results provide further evidence of a shared genetic basis between mammographic density and breast cancer and illustrate the power of studying intermediate quantitative phenotypes to identify putative disease-susceptibility loci.

Original publication

DOI

10.1038/ncomms6303

Type

Journal article

Journal

Nature communications

Publication Date

24/10/2014

Volume

5

Addresses

1] Program in Genetic Epidemiology and Statistical Genetics, Harvard School Of Public Health, Boston, Massachusetts 02115, USA [2] Department of Epidemiology, Harvard School Of Public Health, Boston, Massachusetts 02115, USA.

Keywords

Mammary Glands, Human, Humans, Breast Neoplasms, Genetic Predisposition to Disease, Radiography, Case-Control Studies, Polymorphism, Single Nucleotide, Female, Genome-Wide Association Study, Genetic Loci, Breast Density