Genome-wide association studies identify four ER negative-specific breast cancer risk loci.

Montserrat Garcia-Closas ; Fergus J Couch ; Sara Lindstrom ; Kyriaki Michailidou ; Marjanka K Schmidt ; Mark N Brook ; Nick Orr ; Suhn Kyong Rhie ; Elio Riboli ; Heather S Feigelson ; +264 more... Loic Le Marchand ; Julie E Buring ; Diana Eccles ; Penelope Miron ; Peter A Fasching ; Hiltrud Brauch ; Jenny Chang-Claude ; Jane Carpenter ; Andrew K Godwin ; Heli Nevanlinna ; Graham G Giles ; Angela Cox ; John L Hopper ; Manjeet K Bolla ; Qin Wang ; Joe Dennis ; Ed Dicks ; Will J Howat ; Nils Schoof ; Stig E Bojesen ; Diether Lambrechts ; Annegien Broeks ; Irene L Andrulis ; Pascal Guénel ; Barbara Burwinkel ; Elinor J Sawyer ; Antoinette Hollestelle ; Olivia Fletcher ; Robert Winqvist ; Hermann Brenner ; Arto Mannermaa ; Ute Hamann ; Alfons Meindl ; Annika Lindblom ; Wei Zheng ; Peter Devillee ; Mark S Goldberg ; Jan Lubinski ; Vessela Kristensen ; Anthony Swerdlow ; Hoda Anton-Culver ; Thilo Dörk ; Kenneth Muir ; Keitaro Matsuo ; Anna H Wu ; Paolo Radice ; Soo Hwang Teo ; Xiao-Ou Shu ; William Blot ; Daehee Kang ; Mikael Hartman ; Suleeporn Sangrajrang ; Chen-Yang Shen ; Melissa C Southey ; Daniel J Park ; Fleur Hammet ; Jennifer Stone ; Laura J Van't Veer ; Emiel J Rutgers ; Artitaya Lophatananon ; Sarah Stewart-Brown ; Pornthep Siriwanarangsan ; Julian Peto ORCID logo ; Michael G Schrauder ; Arif B Ekici ; Matthias W Beckmann ; Isabel Dos Santos Silva ORCID logo ; Nichola Johnson ; Helen Warren ; Ian Tomlinson ; Michael J Kerin ; Nicola Miller ; Federick Marme ; Andreas Schneeweiss ; Christof Sohn ; Therese Truong ; Pierre Laurent-Puig ; Pierre Kerbrat ; Børge G Nordestgaard ; Sune F Nielsen ; Henrik Flyger ; Roger L Milne ; Jose Ignacio Arias Perez ; Primitiva Menéndez ; Heiko Müller ; Volker Arndt ; Christa Stegmaier ; Peter Lichtner ; Magdalena Lochmann ; Christina Justenhoven ; Yon-Dschun Ko ; Gene ENvironmental Interaction and breast CAncer (GENICA) Networ ; Taru A Muranen ; Kristiina Aittomäki ; Carl Blomqvist ; Dario Greco ; Tuomas Heikkinen ; Hidemi Ito ; Hiroji Iwata ; Yasushi Yatabe ; Natalia N Antonenkova ; Sara Margolin ; Vesa Kataja ; Veli-Matti Kosma ; Jaana M Hartikainen ; Rosemary Balleine ; kConFab Investigators ; Chiu-Chen Tseng ; David Van Den Berg ; Daniel O Stram ; Patrick Neven ; Anne-Sophie Dieudonné ; Karin Leunen ; Anja Rudolph ; Stefan Nickels ; Dieter Flesch-Janys ; Paolo Peterlongo ; Bernard Peissel ; Loris Bernard ; Janet E Olson ; Xianshu Wang ; Kristen Stevens ; Gianluca Severi ; Laura Baglietto ; Catriona McLean ; Gerhard A Coetzee ; Ye Feng ; Brian E Henderson ; Fredrick Schumacher ; Natalia V Bogdanova ; France Labrèche ; Martine Dumont ; Cheng Har Yip ; Nur Aishah Mohd Taib ; Ching-Yu Cheng ; Martha Shrubsole ; Jirong Long ; Katri Pylkäs ; Arja Jukkola-Vuorinen ; Saila Kauppila ; Julia A Knight ; Gord Glendon ; Anna Marie Mulligan ; Robertus AEM Tollenaar ; Caroline M Seynaeve ; Mieke Kriege ; Maartje J Hooning ; Ans MW van den Ouweland ; Carolien HM van Deurzen ; Wei Lu ; Yu-Tang Gao ; Hui Cai ; Sabapathy P Balasubramanian ; Simon S Cross ; Malcolm WR Reed ; Lisa Signorello ; Qiuyin Cai ; Mitul Shah ; Hui Miao ; Ching Wan Chan ; Kee Seng Chia ; Anna Jakubowska ; Katarzyna Jaworska ; Katarzyna Durda ; Chia-Ni Hsiung ; Pei-Ei Wu ; Jyh-Cherng Yu ; Alan Ashworth ; Michael Jones ; Daniel C Tessier ; Anna González-Neira ; Guillermo Pita ; M Rosario Alonso ; Daniel Vincent ; Francois Bacot ; Christine B Ambrosone ; Elisa V Bandera ; Esther M John ; Gary K Chen ; Jennifer J Hu ; Jorge L Rodriguez-Gil ; Leslie Bernstein ; Michael F Press ; Regina G Ziegler ; Robert M Millikan ; Sandra L Deming-Halverson ; Sarah Nyante ; Sue A Ingles ; Quinten Waisfisz ; Helen Tsimiklis ; Enes Makalic ; Daniel Schmidt ; Minh Bui ; Lorna Gibson ORCID logo ; Bertram Müller-Myhsok ; Rita K Schmutzler ; Rebecca Hein ; Norbert Dahmen ; Lars Beckmann ; Kirsimari Aaltonen ; Kamila Czene ; Astrid Irwanto ; Jianjun Liu ; Clare Turnbull ; Familial Breast Cancer Study (FBCS) ; Nazneen Rahman ; Hanne Meijers-Heijboer ; Andre G Uitterlinden ; Fernando Rivadeneira ; Australian Breast Cancer Tissue Bank (ABCTB) Investigators ; Curtis Olswold ; Susan Slager ; Robert Pilarski ; Foluso Ademuyiwa ; Irene Konstantopoulou ; Nicholas G Martin ; Grant W Montgomery ; Dennis J Slamon ; Claudia Rauh ; Michael P Lux ; Sebastian M Jud ; Thomas Bruning ; Joellen Weaver ; Priyanka Sharma ; Harsh Pathak ; Will Tapper ; Sue Gerty ; Lorraine Durcan ; Dimitrios Trichopoulos ; Rosario Tumino ; Petra H Peeters ; Rudolf Kaaks ; Daniele Campa ; Federico Canzian ; Elisabete Weiderpass ; Mattias Johansson ; Kay-Tee Khaw ; Ruth Travis ; Françoise Clavel-Chapelon ; Laurence N Kolonel ; Constance Chen ; Andy Beck ; Susan E Hankinson ; Christine D Berg ; Robert N Hoover ; Jolanta Lissowska ; Jonine D Figueroa ; Daniel I Chasman ; Mia M Gaudet ; W Ryan Diver ; Walter C Willett ; David J Hunter ; Jacques Simard ; Javier Benitez ; Alison M Dunning ; Mark E Sherman ; Georgia Chenevix-Trench ; Stephen J Chanock ; Per Hall ; Paul DP Pharoah ; Celine Vachon ; Douglas F Easton ; Christopher A Haiman ; Peter Kraft ; (2013) Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nature genetics, 45 (4). 392-398e2. ISSN 1061-4036 DOI: 10.1038/ng.2561
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Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry. The etiology and clinical behavior of ER-negative tumors are different from those of tumors expressing ER (ER positive), including differences in genetic predisposition. To identify susceptibility loci specific to ER-negative disease, we combined in a meta-analysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environment Study (COGS). SNPs at four loci, 1q32.1 (MDM4, P = 2.1 × 10(-12) and LGR6, P = 1.4 × 10(-8)), 2p24.1 (P = 4.6 × 10(-8)) and 16q12.2 (FTO, P = 4.0 × 10(-8)), were associated with ER-negative but not ER-positive breast cancer (P > 0.05). These findings provide further evidence for distinct etiological pathways associated with invasive ER-positive and ER-negative breast cancers.
Item Type Article
ISI 316840600009
Date Deposited 08 Apr 2013 19:06

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