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oai:repisalud.isciii.es:20.500.12105/85702024-11-29T20:26:21Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597
Repisalud author 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 funder Cancer Research UK (Reino Unido) funder Unión Europea. Comisión Europea. European Research Council (ERC) funder NIH - National Cancer Institute (NCI) (Estados Unidos) funder Post-cancer GWAS Initiative funder Dutch Cancer Society (Holanda) funder Instituto de Salud Carlos III funder Finlands Akademi (Finlandia) funder Ministry of Education, Culture, Sports, Science, and Technology (Japón) funder Japan Agency for Medical Research and Development funder United States Army Medical Research and Development Command funder California Breast Cancer Research Program funder Stichting tegen Kanker funder Deutsche Krebshilfe funder National Health and Medical Research Council (Australia) funder Ministère du Développement économique, de Innovation et de Exportation (Canadá) funder Ministry of Higher Education (Malasia) funder Agency for Science, Technology and Research (Singapur) funder National Medical Research Council (Singapur) funder The Research Council of Norway funder Southern and Eastern Norway Regional Health Authority funder Finnish Cancer (Center of Excellence grant) funder Biobanking and BioMolecular resources Research Infrastructure (Países Bajos) funder Genetic Associations and Mechanisms in Oncology (GAME-ON) Initiative funder Yorkshire Cancer Research funder BRL (Basic Research Laboratory) program through the National Research Foundation of Korea - Ministry of Education, Science and Technology funder NIH - National Cancer Institute (NCI). Specialized Programs of Research Excellence (SPOREs) (Estados Unidos) funder Hellenic Cooperative Oncology Group research grant funder Institute of Cancer Research (Reino Unido) funder United States Department of Health and Human Services 2019-11-11T10:52:42Z 2019-11-11T10:52:42Z 2016-09-07 Sci Rep. 2016 ;6:32512. 10.1038/srep32512 2045-2322 2045-2322 Scientific reports 27600471 http://hdl.handle.net/20.500.12105/8570 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. eng Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs) journal article 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 URL https://repisalud.isciii.es/bitstreams/2877c318-ef5c-4d4b-b864-8fb632dee716/download File MD5 0da16fc87eafa6fe2b1d65f9f3e029f1 888328 application/pdf Finescalemappingofthe17q22_2016.pdf URL https://repisalud.isciii.es/bitstreams/130c854d-fb8c-424a-b497-5f482138d241/download File MD5 720e8811902e00d9ab4553a98213624a 1237242 application/pdf Finescalemappingofthe17q22_SUP1_2016.pdf URL https://repisalud.isciii.es/bitstreams/ea1c0709-6b54-4c72-b716-84c605f1c10b/download File MD5 02a43e571788efcd3426c2303afbba59 84825 text/plain Finescalemappingofthe17q22_2016.pdf.txt URL https://repisalud.isciii.es/bitstreams/505ff8ea-7b24-4708-92e1-c674f5f8b9da/download File MD5 1099d2abe964d4ffdf5e4a9abd4411e1 111857 text/plain Finescalemappingofthe17q22_SUP1_2016.pdf.txt