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. © 2009 Nature America, Inc. All rights reserved.

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

BAGLIETTO, LAURA;
2009-01-01

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. © 2009 Nature America, Inc. All rights reserved.
2009
Ahmed, Shahana; Thomas, Gilles; Ghoussaini, Maya; Healey, Catherine S.; Humphreys, Manjeet K.; Platte, Radka; Morrison, Jonathan; Maranian, Melanie; Pooley, Karen A.; Luben, Robert; Eccles, Diana; Evans, D. Gareth; Fletcher, Olivia; Johnson, Nichola; Dos Santos Silva, Isabel; Peto, Julian; Stratton, Michael R.; Rahman, Nazneen; Jacobs, Kevin; Prentice, Ross; Anderson, Garnet L.; Rajkovic, Aleksandar; Curb, J. David; Ziegler, Regina G.; Berg, Christine D.; Buys, Saundra S.; Mccarty, Catherine A.; Feigelson, Heather Spencer; Calle, Eugenia E.; Thun, Michael J.; Diver, W. Ryan; Bojesen, Stig; Nordestgaard, Børge G.; Flyger, Henrik; Dörk, Thilo; Schürmann, Peter; Hillemanns, Peter; Karstens, Johann H.; Bogdanova, Natalia V.; Antonenkova, Natalia N.; Zalutsky, Iosif V.; Bermisheva, Marina; Fedorova, Sardana; Khusnutdinova, Elza; Kang, Daehee; Yoo, Keun Young; Noh, Dong Young; Ahn, Sei Hyun; Devilee, Peter; Van Asperen, Christi J.; Tollenaar, R. A. E. M.; Seynaeve, Caroline; Garcia Closas, Montserrat; Lissowska, Jolanta; Brinton, Louise; Peplonska, Beata; Nevanlinna, Heli; Heikkinen, Tuomas; Aittomäki, Kristiina; Blomqvist, Carl; Hopper, John L.; Southey, Melissa C.; Smith, Letitia; Spurdle, Amanda B.; Schmidt, Marjanka K.; Broeks, Annegien; Van Hien, Richard R.; Cornelissen, Sten; Milne, Roger L.; Ribas, Gloria; González Neira, Anna; Benitez, Javier; Schmutzler, Rita K.; Burwinkel, Barbara; Bartram, Claus R.; Meindl, Alfons; Brauch, Hiltrud; Justenhoven, Christina; Hamann, Ute; Chang Claude, Jenny; Hein, Rebecca; Wang Gohrke, Shan; Lindblom, Annika; Margolin, Sara; Mannermaa, Arto; Kosma, Veli Matti; Kataja, Vesa; Olson, Janet E.; Wang, Xianshu; Fredericksen, Zachary; Giles, Graham G.; Severi, Gianluca; Baglietto, Laura; English, Dallas R.; Hankinson, Susan E.; Cox, David G.; Kraft, Peter; Vatten, Lars J.; Hveem, Kristian; Kumle, Merethe; Sigurdson, Alice; Doody, Michele; Bhatti, Parveen; Alexander, Bruce H.; Hooning, Maartje J.; Van Den Ouweland, Ans M. W.; Oldenburg, Rogier A.; Schutte, Mieke; Hall, Per; Czene, Kamila; Liu, Jianjun; Li, Yuqing; Cox, Angela; Elliott, Graeme; Brock, Ian; Reed, Malcolm W. R.; Shen, Chen Yang; Yu, Jyh Cherng; Hsu, Giu Cheng; Chen, Shou Tung; Anton Culver, Hoda; Ziogas, Argyrios; Andrulis, Irene L.; Knight, Julia A.; Beesley, Jonathan; Goode, Ellen L.; Couch, Fergus; Chenevix Trench, Georgia; Hoover, Robert N.; Ponder, Bruce A. J.; Hunter, David J.; Pharoah, Paul D. P.; Dunning, Alison M.; Chanock, Stephen J.; Easton, Douglas F.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11568/817450
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