1. Genome-wide association study identifies novel breast cancer susceptibility loci
- Author
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Keun-Young Yoo, Sara Wedrén, Margaret R. E. McCredie, Jonathan J. Morrison, Per Hall, Beata Peplonska, Natalia Bogdanova, Robert Luben, Diana Eccles, Nazneen Rahman, Dennis G. Ballinger, Louise A. Brinton, Bruce H. Alexander, Janet E. Olson, C K Axelsson, Loic Le Marchand, Georgia Chenevix-Trench, Paul Brennan, Laurence K. Kolonel, David Cox, Peter Devilee, Nichola Johnson, Yen-Ling Low, Hui-Chun Wang, Angela Cox, Hanne Meijers-Heijboer, Pei-Ei Wu, Michele M. Doody, Alison M. Dunning, Vesa Kataja, Julian Peto, Susan E. Hankinson, Roger L. Milne, Fernando Rivadeneira, Børge G. Nordestgaard, Daehee Kang, Sheila Seal, Melissa C. Southey, Michael R. Stratton, David J. Hunter, Rob A. E. M. Tollenaar, Heli Nevanlinna, Christopher A. Haiman, Sei Hyun Ahn, Karen A. Pooley, Ans M.W. van den Ouweland, Valerie Gaborieau, Malcolm W.R. Reed, Catherine S. Healey, Amanda B. Spurdle, Chris Schroen, Jaana M. Hartikainen, Jolanta Lissowska, Bruce A.J. Ponder, Jonathan Beesley, Paul D.P. Pharoah, Douglas F. Easton, Gordon MacPherson, André G. Uitterlinden, Hiltrud Brauch, Arto Mannermaa, Jianjun Liu, Christina Justenhoven, Catharina E. Jacobi, Montserrat Garcia-Closas, Yon-Dschun Ko, Do¨rk Do¨rk, Richard Bowman, Rainer Fagerholm, Ian W. Brock, Nicholas J. Wareham, Jinghui Zhang, Dong-Young Noh, Xiaoqing Chen, Graham G. Giles, Brian E. Henderson, David G. Cox, D. Gareth Evans, Javier Benitez, kConFab, Veli-Matti Kosma, Fabrice Odefrey, Gloria Ribas, Helen I. Field, Ellen L. Goode, Fergus J. Couch, Kerstin B. Meyer, Stig E. Bojesen, Ute Hamann, John L. Hopper, Alice J. Sigurdson, Chen-Yang Shen, Suleeporn Sangrajrang, H Eerola, Shahana Ahmed, Jan G. M. Klijn, Jeffery P. Struewing, Stephen J. Chanock, Peter Schu¨rmann, Anna González-Neira, Deborah J. Thompson, Nicholas E. Day, Olivia Fletcher, Clinical Genetics, Medical Oncology, Internal Medicine, and Human Genetics
- Subjects
Genotype ,MAP Kinase Kinase Kinase 1 ,Breast Neoplasms ,Genome-wide association study ,Single-nucleotide polymorphism ,Biology ,Polymorphism, Single Nucleotide ,Article ,03 medical and health sciences ,0302 clinical medicine ,Breast cancer ,SDG 3 - Good Health and Well-being ,Genetic variation ,Odds Ratio ,Genetic predisposition ,medicine ,Humans ,Genetic Predisposition to Disease ,Receptor, Fibroblast Growth Factor, Type 2 ,Alleles ,Asia, Southeastern ,030304 developmental biology ,Genetics ,0303 health sciences ,Multidisciplinary ,Genome, Human ,Microfilament Proteins ,Australia ,High Mobility Group Proteins ,Cancer ,medicine.disease ,3. Good health ,Europe ,TOX3 ,Case-Control Studies ,030220 oncology & carcinogenesis ,North America ,Trans-Activators ,Female ,Apoptosis Regulatory Proteins ,Receptors, Progesterone - Abstract
Breast cancer exhibits familial aggregation, consistent with variation in genetic susceptibility to the disease. Known susceptibility genes account for less than 25% of the familial risk of breast cancer, and the residual genetic variance is likely to be due to variants conferring more moderate risks. To identify further susceptibility alleles, we conducted a two-stage genome-wide association study in 4,398 breast cancer cases and 4,316 controls, followed by a third stage in which 30 single nucleotide polymorphisms (SNPs) were tested for confirmation in 21,860 cases and 22,578 controls from 22 studies. We used 227,876 SNPs that were estimated to correlate with 77% of known common SNPs in Europeans at r2 > 0.5. SNPs in five novel independent loci exhibited strong and consistent evidence of association with breast cancer (P
- Published
- 2007