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00925njm 22002777a 4500 dc Darabi, Hatef author Beesley, Jonathan author Droit, Arnaud author Kar, Siddhartha author Nord, Silje author Moradi Marjaneh, Mahdi author Soucy, Penny author Michailidou, Kyriaki author Ghoussaini, Maya author Fues Wahl, Hanna author Bolla, Manjeet K author Wang, Qin author Dennis, Joe author Alonso, M Rosario author Andrulis, Irene L author Anton-Culver, Hoda author Arndt, Volker author Beckmann, Matthias W author Benitez, Javier author Bogdanova, Natalia V author Bojesen, Stig E author Brauch, Hiltrud author Brenner, Hermann author Broeks, Annegien author Brüning, Thomas author Burwinkel, Barbara author Chang-Claude, Jenny author Choi, Ji-Yeob author Conroy, Don M author Couch, Fergus J author Cox, Angela author Cross, Simon S author Czene, Kamila author Devilee, Peter author Dörk, Thilo author Easton, Douglas F author Fasching, Peter A author Figueroa, Jonine author Fletcher, Olivia author Flyger, Henrik author Galle, Eva author García-Closas, Montserrat author Giles, Graham G author Goldberg, Mark S author González-Neira A, Anna author Guénel, Pascal author Haiman, Christopher A author Hallberg, Emily author Hamann, Ute author Hartman, Mikael author Hollestelle, Antoinette author Hopper, John L author Ito, Hidemi author Jakubowska, Anna author Johnson, Nichola author Kang, Daehee author Khan, Sofia author Kosma, Veli-Matti author Kriege, Mieke author Kristensen, Vessela author Lambrechts, Diether author Le Marchand, Loic author Lee, Soo Chin author Lindblom, Annika author Lophatananon, Artitaya author Lubinski, Jan author Mannermaa, Arto author Manoukian, Siranoush author Margolin, Sara author Matsuo, Keitaro author Mayes, Rebecca author McKay, James author Meindl, Alfons author Milne, Roger L author Muir, Kenneth author Neuhausen, Susan L author Nevanlinna, Heli author Olswold, Curtis author Orr, Nick author Peterlongo, Paolo author Pita, Guillermo author Pylkäs, Katri author Rudolph, Anja author Sangrajrang, Suleeporn author Sawyer, Elinor J author Schmidt, Marjanka K author Schmutzler, Rita K author Seynaeve, Caroline author Shah, Mitul author Shen, Chen-Yang author Shu, Xiao-Ou author Southey, Melissa C author Stram, Daniel O author Surowy, Harald author Swerdlow, Anthony author Teo, Soo H author Tessier, Daniel C author Tomlinson, Ian author Torres, Diana author Truong, Thérèse author Vachon, Celine M author Vincent, Daniel author Winqvist, Robert author Wu, Anna H author Wu, Pei-Ei author Yip, Cheng Har author Zheng, Wei author Pharoah, Paul D P author Hall, Per author Edwards, Stacey L author Simard, Jacques author French, Juliet D author Chenevix-Trench, Georgia author Dunning, Alison M author 2016-09-07 Genome-wide association studies have found SNPs at 17q22 to be associated with breast cancer risk. To identify potential causal variants related to breast cancer risk, we performed a high resolution fine-mapping analysis that involved genotyping 517 SNPs using a custom Illumina iSelect array (iCOGS) followed by imputation of genotypes for 3,134 SNPs in more than 89,000 participants of European ancestry from the Breast Cancer Association Consortium (BCAC). We identified 28 highly correlated common variants, in a 53 Kb region spanning two introns of the STXBP4 gene, that are strong candidates for driving breast cancer risk (lead SNP rs2787486 (OR = 0.92; CI 0.90-0.94; P = 8.96 × 10(-15))) and are correlated with two previously reported risk-associated variants at this locus, SNPs rs6504950 (OR = 0.94, P = 2.04 × 10(-09), r(2) = 0.73 with lead SNP) and rs1156287 (OR = 0.93, P = 3.41 × 10(-11), r(2) = 0.83 with lead SNP). Analyses indicate only one causal SNP in the region and several enhancer elements targeting STXBP4 are located within the 53 kb association signal. Expression studies in breast tumor tissues found SNP rs2787486 to be associated with increased STXBP4 expression, suggesting this may be a target gene of this locus. Sci Rep. 2016 ;6:32512. 10.1038/srep32512 2045-2322 2045-2322 Scientific reports 27600471 http://hdl.handle.net/20.500.12105/8570 Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs)