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

Sara Lindström, Deborah J. Thompson, Andrew D. Paterson, Jingmei Li, Gretchen L. Gierach, Christopher Scott, Jennifer Stone, Julie A. Douglas, Isabel Dos-Santos-Silva, Pablo Fernandez-Navarro, Jajini Verghase, Paula Smith, Judith Brown, Robert Luben, Nicholas J. Wareham, Ruth J F Loos, John A. Heit, V. Shane Pankratz, Aaron Norman, Ellen L GoodeJulie M Cunningham, Mariza De Andrade, Robert A. Vierkant, Kamila Czene, Peter A. Fasching, Laura Baglietto, Melissa C. Southey, Graham G. Giles, Kaanan P. Shah, Heang Ping Chan, Mark A. Helvie, Andrew H. Beck, Nicholas W. Knoblauch, Aditi Hazra, David J. Hunter, Peter Kraft, Marina Pollan, Jonine D. Figueroa, Fergus J Couch, John L. Hopper, Per Hall, Douglas F. Easton, Norman F. Boyd, Celine M Vachon, Rulla M. Tamimi

Research output: Contribution to journalArticle

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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-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

Original languageEnglish (US)
Article number5303
JournalNature Communications
Volume5
DOIs
StatePublished - Oct 24 2014

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genome
Genome-Wide Association Study
loci
breast
Genes
cancer
Tissue
Breast Neoplasms
adipose tissues
phenotype
Meta-Analysis
Adipose Tissue
Breast
Epithelium
Genome
Phenotype
magnetic permeability
Breast Density

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Chemistry(all)
  • Physics and Astronomy(all)

Cite this

Lindström, 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

Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk. / 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; Verghase, Jajini; Smith, Paula; Brown, Judith; Luben, Robert; Wareham, Nicholas J.; Loos, Ruth J F; Heit, John A.; Shane Pankratz, V.; Norman, Aaron; Goode, Ellen L; Cunningham, Julie M; De Andrade, 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, Marina; Figueroa, Jonine D.; Couch, Fergus J; Hopper, John L.; Hall, Per; Easton, Douglas F.; Boyd, Norman F.; Vachon, Celine M; Tamimi, Rulla M.

In: Nature Communications, Vol. 5, 5303, 24.10.2014.

Research output: Contribution to journalArticle

Lindström, 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, Shane Pankratz, V, Norman, A, Goode, EL, Cunningham, JM, De Andrade, M, Vierkant, RA, Czene, K, Fasching, PA, 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, 'Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk', Nature Communications, vol. 5, 5303. https://doi.org/10.1038/ncomms6303
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 ; Verghase, Jajini ; Smith, Paula ; Brown, Judith ; Luben, Robert ; Wareham, Nicholas J. ; Loos, Ruth J F ; Heit, John A. ; Shane Pankratz, V. ; Norman, Aaron ; Goode, Ellen L ; Cunningham, Julie M ; De Andrade, 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, Marina ; Figueroa, Jonine D. ; Couch, Fergus J ; Hopper, John L. ; Hall, Per ; Easton, Douglas F. ; Boyd, Norman F. ; Vachon, Celine M ; Tamimi, Rulla M. / Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk. In: Nature Communications. 2014 ; Vol. 5.
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