Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2

Shahana Ahmed, Gilles Thomas, Maya Ghoussaini, Catherine S. Healey, Manjeet K. Humphreys, Radka Platte, Jonathan Morrison, Melanie Maranian, Karen A. Pooley, Robert Luben, Diana Eccles, D. Gareth Evans, Olivia Fletcher, Nichola Johnson, Isabel Dos Santos Silva, Julian Peto, Michael R. Stratton, Nazneen Rahman, Kevin Jacobs, Ross PrenticeGarnet L. Anderson, Aleksandar Rajkovic, J. David Curb, Regina G. Ziegler, Christine D. Berg, Saundra S. Buys, Catherine A. McCarty, Heather Spencer Feigelson, Eugenia E. Calle, Michael J. Thun, W. Ryan Diver, Stig Bojesen, Børge G. Nordestgaard, Henrik Flyger, Thilo Dörk, Peter Schürmann, Peter Hillemanns, Johann H. Karstens, Natalia V. Bogdanova, Natalia N. Antonenkova, Iosif V. Zalutsky, Marina Bermisheva, Sardana Fedorova, Elza Khusnutdinova, Daehee Kang, Keun Young Yoo, Dong Young Noh, Sei Hyun Ahn, Peter Devilee, Christi J. Van Asperen, R. A.E.M. Tollenaar, Caroline Seynaeve, Montserrat Garcia-Closas, Jolanta Lissowska, Louise Brinton, Beata Peplonska, Heli Nevanlinna, Tuomas Heikkinen, Kristiina Aittomäki, Carl Blomqvist, John L. Hopper, Melissa C. Southey, Letitia Smith, Amanda B. Spurdle, Marjanka K. Schmidt, Annegien Broeks, Richard R. Van Hien, Sten Cornelissen, Roger L. Milne, Gloria Ribas, Anna González-Neira, Javier Benitez, Rita K. Schmutzler, Barbara Burwinkel, Claus R. Bartram, Alfons Meindl, Hiltrud Brauch, Christina Justenhoven, Ute Hamann, Jenny Chang-Claude, Rebecca Hein, Shan Wang-Gohrke, Annika Lindblom, Sara Margolin, Arto Mannermaa, Veli Matti Kosma, Vesa Kataja, Janet E. Olson, Xianshu Wang, Zachary Fredericksen, Graham G. Giles, Gianluca Severi, Laura Baglietto, Dallas R. English, Susan E. Hankinson, David G. Cox, Peter Kraft, Lars J. Vatten, Kristian Hveem, Merethe Kumle, Alice Sigurdson, Michele Doody, Parveen Bhatti, Bruce H. Alexander, Maartje J. Hooning, Ans M.W. Van Den Ouweland, Rogier A. Oldenburg, Mieke Schutte, Per Hall, Kamila Czene, Jianjun Liu, Yuqing Li, Angela Cox, Graeme Elliott, Ian Brock, Malcolm W.R. Reed, Chen Yang Shen, Jyh Cherng Yu, Giu Cheng Hsu, Shou Tung Chen, Hoda Anton-Culver, Argyrios Ziogas, Irene L. Andrulis, Julia A. Knight, Jonathan Beesley, Ellen L. Goode, Fergus Couch, Georgia Chenevix-Trench, Robert N. Hoover, Bruce A.J. Ponder, David J. Hunter, Paul D.P. Pharoah, Alison M. Dunning, Stephen J. Chanock, Douglas F. Easton

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Abstract

Genome-wide association studies (GWAS) have identified seven breast cancer susceptibility loci, but these explain only a small fraction of the familial risk of the disease. Five of these loci were identified through a two-stage GWAS involving 390 familial cases and 364 controls in the first stage, and 3,990 cases and 3,916 controls in the second stage. To identify additional loci, we tested over 800 promising associations from this GWAS in a further two stages involving 37,012 cases and 40,069 controls from 33 studies in the CGEMS collaboration and Breast Cancer Association Consortium. We found strong evidence for additional susceptibility loci on 3p (rs4973768: per-allele OR = 1.11, 95% CI = 1.08-1.13, P = 4.1 × 10-23) and 17q (rs6504950: per-allele OR = 0.95, 95% CI = 0.92-0.97, P = 1.4 × 10 -8). Potential causative genes include SLC4A7 and NEK10 on 3p and COX11 on 17q.

Original languageEnglish (US)
Pages (from-to)585-590
Number of pages6
JournalNature Genetics
Volume41
Issue number5
DOIs
StatePublished - May 1 2009

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ASJC Scopus subject areas

  • Genetics

Cite this

Ahmed, S., Thomas, G., Ghoussaini, M., Healey, C. S., Humphreys, M. K., Platte, R., Morrison, J., Maranian, M., Pooley, K. A., Luben, R., Eccles, D., Evans, D. G., Fletcher, O., Johnson, N., Dos Santos Silva, I., Peto, J., Stratton, M. R., Rahman, N., Jacobs, K., ... Easton, D. F. (2009). Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nature Genetics, 41(5), 585-590. https://doi.org/10.1038/ng.354