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;
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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 
;
Michael G Schrauder;
Arif B Ekici;
Matthias W Beckmann;
Isabel Dos Santos Silva ;
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 ;
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
;
Michael G Schrauder;
Arif B Ekici;
Matthias W Beckmann;
Isabel Dos Santos Silva ;
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 ;
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
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.
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