Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
Michailidou K., Hall P., Gonzalez-Neira A., Ghoussaini M., Dennis J., Milne RL., Schmidt MK., Chang-Claude J., Bojesen SE., Bolla MK., Wang Q., Dicks E., Lee A., Turnbull C., Rahman N., Breast and Ovarian Cancer Susceptibility Collaboration None., Fletcher O., Peto J., Gibson L., Dos Santos Silva I., Nevanlinna H., Muranen TA., Aittomäki K., Blomqvist C., Czene K., Irwanto A., Liu J., Waisfisz Q., Meijers-Heijboer H., Adank M., Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON) None., van der Luijt RB., Hein R., Dahmen N., Beckman L., Meindl A., Schmutzler RK., Müller-Myhsok B., Lichtner P., Hopper JL., Southey MC., Makalic E., Schmidt DF., Uitterlinden AG., Hofman A., Hunter DJ., Chanock SJ., Vincent D., Bacot F., Tessier DC., Canisius S., Wessels LFA., Haiman CA., Shah M., Luben R., Brown J., Luccarini C., Schoof N., Humphreys K., Li J., Nordestgaard BG., Nielsen SF., Flyger H., Couch FJ., Wang X., Vachon C., Stevens KN., Lambrechts D., Moisse M., Paridaens R., Christiaens M-R., Rudolph A., Nickels S., Flesch-Janys D., Johnson N., Aitken Z., Aaltonen K., Heikkinen T., Broeks A., Veer LJV., van der Schoot CE., Guénel P., Truong T., Laurent-Puig P., Menegaux F., Marme F., Schneeweiss A., Sohn C., Burwinkel B., Zamora MP., Perez JIA., Pita G., Alonso MR., Cox A., Brock IW., Cross SS., Reed MWR., Sawyer EJ., Tomlinson I., Kerin MJ., Miller N., Henderson BE., Schumacher F., Le Marchand L., Andrulis IL., Knight JA., Glendon G., Mulligan AM., kConFab Investigators None., Australian Ovarian Cancer Study Group None., Lindblom A., Margolin S., Hooning MJ., Hollestelle A., van den Ouweland AMW., Jager A., Bui QM., Stone J., Dite GS., Apicella C., Tsimiklis H., Giles GG., Severi G., Baglietto L., Fasching PA., Haeberle L., Ekici AB., Beckmann MW., Brenner H., Müller H., Arndt V., Stegmaier C., Swerdlow A., Ashworth A., Orr N., Jones M., Figueroa J., Lissowska J., Brinton L., Goldberg MS., Labrèche F., Dumont M., Winqvist R., Pylkäs K., Jukkola-Vuorinen A., Grip M., Brauch H., Hamann U., Brüning T., GENICA (Gene Environment Interaction and Breast Cancer in Germany) Network None., Radice P., Peterlongo P., Manoukian S., Bonanni B., Devilee P., Tollenaar RAEM., Seynaeve C., van Asperen CJ., Jakubowska A., Lubinski J., Jaworska K., Durda K., Mannermaa A., Kataja V., Kosma V-M., Hartikainen JM., Bogdanova NV., Antonenkova NN., Dörk T., Kristensen VN., Anton-Culver H., Slager S., Toland AE., Edge S., Fostira F., Kang D., Yoo K-Y., Noh D-Y., Matsuo K., Ito H., Iwata H., Sueta A., Wu AH., Tseng C-C., Van Den Berg D., Stram DO., Shu X-O., Lu W., Gao Y-T., Cai H., Teo SH., Yip CH., Phuah SY., Cornes BK., Hartman M., Miao H., Lim WY., Sng J-H., Muir K., Lophatananon A., Stewart-Brown S., Siriwanarangsan P., Shen C-Y., Hsiung C-N., Wu P-E., Ding S-L., Sangrajrang S., Gaborieau V., Brennan P., McKay J., Blot WJ., Signorello LB., Cai Q., Zheng W., Deming-Halverson S., Shrubsole M., Long J., Simard J., Garcia-Closas M., Pharoah PDP., Chenevix-Trench G., Dunning AM., Benitez J., Easton DF.
Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ∼9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborative Oncological Gene-environment Study, COGS) and used a custom Illumina iSelect genotyping array, iCOGS, comprising more than 200,000 SNPs. We identified SNPs at 41 new breast cancer susceptibility loci at genome-wide significance (P < 5 × 10(-8)). Further analyses suggest that more than 1,000 additional loci are involved in breast cancer susceptibility.