11q13 is a susceptibility locus for hormone receptor positive breast cancer.

Diether Lambrechts; Therese Truong; Christina Justenhoven; Manjeet K Humphreys; Jean Wang; John L Hopper; Gillian S Dite; Carmel Apicella; Melissa C Southey; Marjanka K Schmidt; +143 more... Annegien Broeks; Sten Cornelissen; Richard van Hien; Elinor Sawyer; Ian Tomlinson; Michael Kerin; Nicola Miller; Roger L Milne; M Pilar Zamora; José Ignacio Arias Pérez; Javier Benítez; Ute Hamann; Yon-Dschun Ko; Thomas Brüning; GENICA Network; Jenny Chang-Claude; Ursel Eilber; Rebecca Hein; Stefan Nickels; Dieter Flesch-Janys; Shan Wang-Gohrke; Esther M John; Alexander Miron; Robert Winqvist; Katri Pylkäs; Arja Jukkola-Vuorinen; Mervi Grip; Georgia Chenevix-Trench; Jonathan Beesley; Xiaoqing Chen; Investigators kConFab; Australian Ovarian Cancer Study Group; Florence Menegaux; Emilie Cordina-Duverger; Chen-Yang Shen; Jyh-Cherng Yu; Pei-Ei Wu; Ming-Feng Hou; Irene L Andrulis; Teresa Selander; Gord Glendon; Anna Marie Mulligan; Hoda Anton-Culver; Argyrios Ziogas; Kenneth R Muir; Artitaya Lophatananon; Suthee Rattanamongkongul; Puttisak Puttawibul; Michael Jones; Nicholas Orr; Alan Ashworth; Anthony Swerdlow; Gianluca Severi; Laura Baglietto; Graham Giles; Melissa Southey; Federik Marmé; Andreas Schneeweiss; Christof Sohn; Barbara Burwinkel; Betul T Yesilyurt; Patrick Neven; Robert Paridaens; Hans Wildiers; Hermann Brenner; Heiko Müller; Volker Arndt; Christa Stegmaier; Alfons Meindl; Sarah Schott; Claus R Bartram; Rita K Schmutzler; Angela Cox; Ian W Brock; Graeme Elliott; Simon S Cross; Peter A Fasching; Ruediger Schulz-Wendtland; Arif B Ekici; Matthias W Beckmann; Olivia Fletcher; Nichola Johnson; Isabel Dos Santos Silva; Julian Peto

; Heli Nevanlinna; Taru A Muranen; Kristiina Aittomäki; Carl Blomqvist; Thilo Dörk; Peter Schürmann; Michael Bremer; Peter Hillemanns; Natalia V Bogdanova; Natalia N Antonenkova; Yuri I Rogov; Johann H Karstens; Elza Khusnutdinova; Marina Bermisheva; Darya Prokofieva; Shamil Gancev; Anna Jakubowska; Jan Lubinski; Katarzyna Jaworska; Katarzyna Durda; Børge G Nordestgaard; Stig E Bojesen; Charlotte Lanng; Arto Mannermaa; Vesa Kataja; Veli-Matti Kosma; Jaana M Hartikainen; Paolo Radice; Paolo Peterlongo; Siranoush Manoukian; Loris Bernard; Fergus J Couch; Janet E Olson; Xianshu Wang; Zachary Fredericksen; Grethe Grenaker Alnaes; Vessela Kristensen; Anne-Lise Børresen-Dale; Peter Devilee; Robert AEM Tollenaar; Caroline M Seynaeve; Maartje J Hooning; Montserrat García-Closas; Stephen J Chanock; Jolanta Lissowska; Mark E Sherman; Per Hall; Jianjun Liu; Kamila Czene; Daehee Kang; Keun-Young Yoo; Dong-Young Noh; Annika Lindblom; Sara Margolin; Alison M Dunning; Paul DP Pharoah; Douglas F Easton; Pascal Guénel; Hiltrud Brauch; (2012) 11q13 is a susceptibility locus for hormone receptor positive breast cancer. Human mutation, 33 (7). pp. 1123-1132. ISSN 1059-7794 DOI: 10.1002/humu.22089

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A recent two-stage genome-wide association study (GWAS) identified five novel breast cancer susceptibility loci on chromosomes 9, 10, and 11. To provide more reliable estimates of the relative risk associated with these loci and investigate possible heterogeneity by subtype of breast cancer, we genotyped the variants rs2380205, rs1011970, rs704010, rs614367, and rs10995190 in 39 studies from the Breast Cancer Association Consortium (BCAC), involving 49,608 cases and 48,772 controls of predominantly European ancestry. Four of the variants showed clear evidence of association (P ≤ 3 × 10(-9) ) and weak evidence was observed for rs2380205 (P = 0.06). The strongest evidence was obtained for rs614367, located on 11q13 (per-allele odds ratio 1.21, P = 4 × 10(-39) ). The association for rs614367 was specific to estrogen receptor (ER)-positive disease and strongest for ER plus progesterone receptor (PR)-positive breast cancer, whereas the associations for the other three loci did not differ by tumor subtype.