作者
Nick Orr, Frank Dudbridge, Nicola Dryden, Sarah Maguire, Daniela Novo, Eleni Perrakis, Nichola Johnson, Maya Ghoussaini, John L Hopper, Melissa C Southey, Carmel Apicella, Jennifer Stone, Marjanka K Schmidt, Annegien Broeks, Laura J Van't Veer, Frans B Hogervorst, Peter A Fasching, Lothar Haeberle, Arif B Ekici, Matthias W Beckmann, Lorna Gibson, Zoe Aitken, Helen Warren, Elinor Sawyer, Ian Tomlinson, Michael J Kerin, Nicola Miller, Barbara Burwinkel, Frederik Marme, Andreas Schneeweiss, Chistof Sohn, Pascal Guenel, Therese Truong, Emilie Cordina-Duverger, Marie Sanchez, Stig E Bojesen, Børge G Nordestgaard, Sune F Nielsen, Henrik Flyger, Javier Benitez, Maria Pilar Zamora, Jose Ignacio Arias Perez, Primitiva Menendez, Hoda Anton-Culver, Susan L Neuhausen, Hermann Brenner, Aida Karina Dieffenbach, Volker Arndt, Christa Stegmaier, Ute Hamann, Hiltrud Brauch, Christina Justenhoven, Thomas Brüning, Yon-Dschun Ko, Heli Nevanlinna, Kristiina Aittomäki, Carl Blomqvist, Sofia Khan, Natalia Bogdanova, Thilo Dörk, Annika Lindblom, Sara Margolin, Arto Mannermaa, Vesa Kataja, Veli-Matti Kosma, Jaana M Hartikainen, Georgia Chenevix-Trench, Jonathan Beesley, Diether Lambrechts, Matthieu Moisse, Guiseppe Floris, Benoit Beuselinck, Jenny Chang-Claude, Anja Rudolph, Petra Seibold, Dieter Flesch-Janys, Paolo Radice, Paolo Peterlongo, Bernard Peissel, Valeria Pensotti, Fergus J Couch, Janet E Olson, Seth Slettedahl, Celine Vachon, Graham G Giles, Roger L Milne, Catriona McLean, Christopher A Haiman, Brian E Henderson, Fredrick Schumacher, Loic Le Marchand, Jacques Simard, Mark S Goldberg, France Labreche, Martine Dumont, Vessela Kristensen, Grethe Grenaker Alnaes, Silje Nord, Anne-Lise Borresen-Dale, Wei Zheng, Sandra Deming-Halverson, Martha Shrubsole, Jirong Long, Robert Winqvist, Katri Pylkäs, Arja Jukkola-Vuorinen, Mervi Grip, Irene L Andrulis, Julia A Knight, Gord Glendon, Sandrine Tchatchou, Peter Devilee, Robertus AEM Tollenaar, Caroline M Seynaeve, Christi J Van Asperen, Montserrat Garcia-Closas, Jonine Figueroa, Stephen J Chanock, Jolanta Lissowska, Kamila Czene, Hatef Darabi, Mikael Eriksson, Daniel Klevebring, Maartje J Hooning, Antoinette Hollestelle, Carolien HM Van Deurzen, Mieke Kriege, Per Hall, Jingmei Li, Jianjun Liu, Keith Humphreys, Angela Cox, Simon S Cross, Malcolm WR Reed, Paul DP Pharoah, Alison M Dunning, Mitul Shah, Barbara J Perkins, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska-Bieniek, Katarzyna Durda, Alan Ashworth, Anthony Swerdlow, Michael Jones, Minouk J Schoemaker, Alfons Meindl, Rita K Schmutzler, Curtis Olswold, Susan Slager
发表日期
2015/5/15
期刊
Human molecular genetics
卷号
24
期号
10
页码范围
2966-2984
出版商
Oxford University Press
简介
We recently identified a novel susceptibility variant, rs865686, for estrogen-receptor positive breast cancer at 9q31.2. Here, we report a fine-mapping analysis of the 9q31.2 susceptibility locus using 43 160 cases and 42 600 controls of European ancestry ascertained from 52 studies and a further 5795 cases and 6624 controls of Asian ancestry from nine studies. Single nucleotide polymorphism (SNP) rs676256 was most strongly associated with risk in Europeans (odds ratios [OR] = 0.90 [0.88–0.92]; P-value = 1.58 × 10−25). This SNP is one of a cluster of highly correlated variants, including rs865686, that spans ∼14.5 kb. We identified two additional independent association signals demarcated by SNPs rs10816625 (OR = 1.12 [1.08–1.17]; P-value = 7.89 × 10−09) and rs13294895 (OR = 1.09 [1.06–1.12]; P-value = 2.97 × 10−11). SNP rs10816625, but not rs13294895, was also associated with risk of breast …
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N Orr, F Dudbridge, N Dryden, S Maguire, D Novo… - Human molecular genetics, 2015
