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

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: dens...

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Detalles Bibliográficos
Autores: Lindström, Sara, Thompson, Deborah J, Paterson, Andrew D, Li, Jingmei, Gierach, Gretchen L, Scott, Christopher, Stone, Jennifer, Douglas, Julie A, Dos-Santos-Silva, Isabel, Fernandez-Navarro, Pablo L, Verghase, Jajini, Smith, Paula, Brown, Judith, Luben, Robert, Wareham, Nicholas J, Loos, Ruth J F, Heit, John A, Pankratz, V Shane, Norman, Aaron, Goode, Ellen L, Cunningham, Julie M, deAndrade, Mariza, Vierkant, Robert A, Czene, Kamila, Fasching, Peter A, Baglietto, Laura, Southey, Melissa C, Giles, Graham G, Shah, Kaanan P, Chan, Heang-Ping, Helvie, Mark A, Beck, Andrew H, Knoblauch, Nicholas W, Hazra, Aditi, Hunter, David J, Kraft, Peter, Pollan-Santamaria, Marina, Figueroa, Jonine D, Couch, Fergus J, Hopper, John L, Hall, Per, Easton, Douglas F, Boyd, Norman F, Vachon, Celine M, Tamimi, Rulla M
Tipo de recurso: artículo
Fecha de publicación:2014
País:España
Institución:Instituto de Salud Carlos III (ISCIII)
Repositorio:Repisalud
Idioma:inglés
OAI Identifier:oai:repisalud.isciii.es:20.500.12105/9268
Acceso en línea:http://hdl.handle.net/20.500.12105/9268
Access Level:acceso abierto
Palabra clave:Breast Density
Breast Neoplasms
Case-Control Studies
Female
Humans
Mammary Glands, Human
Polymorphism, Single Nucleotide
Radiography
Genetic Loci
Genetic Predisposition to Disease
Genome-Wide Association Study
Descripción
Sumario: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.

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