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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Autores principales: 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., 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, Marina, Figueroa, Jonine D., Couch, Fergus J., Hopper, John L., Hall, Per, Easton, Douglas F., Boyd, Norman F., Vachon, Celine M., Tamimi, Rulla M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320806/
https://www.ncbi.nlm.nih.gov/pubmed/25342443
http://dx.doi.org/10.1038/ncomms6303
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author 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.
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, Marina
Figueroa, Jonine D.
Couch, Fergus J.
Hopper, John L.
Hall, Per
Easton, Douglas F.
Boyd, Norman F.
Vachon, Celine M.
Tamimi, Rulla M.
author_facet 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.
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, Marina
Figueroa, Jonine D.
Couch, Fergus J.
Hopper, John L.
Hall, Per
Easton, Douglas F.
Boyd, Norman F.
Vachon, Celine M.
Tamimi, Rulla M.
author_sort Lindström, Sara
collection PubMed
description 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, SGSM3/MKL1), non-dense area (8p11.23) and percent density (PRDM6, 8p11.23, 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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spelling pubmed-43208062015-04-24 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. 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, Marina Figueroa, Jonine D. Couch, Fergus J. Hopper, John L. Hall, Per Easton, Douglas F. Boyd, Norman F. Vachon, Celine M. Tamimi, Rulla M. Nat Commun Article 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, SGSM3/MKL1), non-dense area (8p11.23) and percent density (PRDM6, 8p11.23, 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. 2014-10-24 /pmc/articles/PMC4320806/ /pubmed/25342443 http://dx.doi.org/10.1038/ncomms6303 Text en http://www.nature.com/authors/editorial_policies/license.html#terms Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms
spellingShingle Article
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.
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, 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
title Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk
title_full Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk
title_fullStr Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk
title_full_unstemmed Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk
title_short Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk
title_sort genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320806/
https://www.ncbi.nlm.nih.gov/pubmed/25342443
http://dx.doi.org/10.1038/ncomms6303
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