Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk

Lindstroem S, Thompson DJ, Paterson AD, Li J, Gierach GL, Scott C, Stone J, Douglas JA, Dos-Santos-Silva I, Fernandez-Navarro P, Verghase J, Smith P, Brown J, Luben R, Wareham NJ, Loos RJF, Heit JA, Pankratz VS, Norman A, Goode EL, Cunningham JM, Deandrade M, Vierkant RA, Czene K, Fasching P, Baglietto L, Southey MC, Giles GG, Shah KP, Chan HP, Helvie MA, Beck AH, Knoblauch NW, Hazra A, Hunter DJ, Kraft P, Pollan M, Figueroa JD, Couch FJ, Hopper JL, Hall P, Easton DF, Boyd NF, Vachon CM, Tamimi RM (2014)

Publication Type: Journal article

Publication year: 2014

Journal

Nature Communications Nature Publishing Group: Nature Communications

Book Volume: 5

Pages Range: 5303

DOI: 10.1038/ncomms6303

Abstract

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.

Authors with CRIS profile

Peter Fasching Professur für Translationale Frauenheilkunde und Geburtshilfe

Involved external institutions

Mayo Clinic US United States (USA) (US) University of Cambridge GB United Kingdom (GB) Universidad Carlos III de Madrid (UC3M) ES Spain (ES) London School of Hygiene and Tropical Medicine GB United Kingdom (GB) University of Michigan US United States (USA) (US) University of Western Australia (UWA) AU Australia (AU) National Cancer Institute (NCI) US United States (USA) (US) Karolinska Institute SE Sweden (SE) The Hospital for Sick Children (SickKids) CA Canada (CA) Harvard University US United States (USA) (US) Ontario Institute for Cancer Research CA Canada (CA) The University of Melbourne AU Australia (AU) Beth Israel Deaconess Medical Center (BIDMC) US United States (USA) (US) Cancer Council Victoria AU Australia (AU)

How to cite

APA:

Lindstroem, S., Thompson, D.J., Paterson, A.D., Li, J., Gierach, G.L., Scott, C.,... Tamimi, R.M. (2014). Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk. Nature Communications, 5, 5303. https://doi.org/10.1038/ncomms6303

MLA:

Lindstroem, Sara, et al. "Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk." Nature Communications 5 (2014): 5303.

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