Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
Roger L Milne 
;
Karoline B Kuchenbaecker;
Kyriaki Michailidou;
Jonathan Beesley;
Siddhartha Kar;
Sara Lindström;
Shirley Hui;
Audrey Lemaçon;
Penny Soucy;
Joe Dennis;
+466 more...
Xia Jiang;
Asha Rostamianfar;
Hilary Finucane;
Manjeet K Bolla;
Lesley McGuffog;
Qin Wang;
Cora M Aalfs;
ABCTB Investigators;
Marcia Adams;
Julian Adlard;
Simona Agata;
Shahana Ahmed;
Habibul Ahsan;
Kristiina Aittomäki;
Fares Al-Ejeh;
Jamie Allen;
Christine B Ambrosone;
Christopher I Amos;
Irene L Andrulis;
Hoda Anton-Culver;
Natalia N Antonenkova;
Volker Arndt;
Norbert Arnold;
Kristan J Aronson;
Bernd Auber;
Paul L Auer;
Margreet GEM Ausems;
Jacopo Azzollini;
François Bacot;
Judith Balmaña;
Monica Barile;
Laure Barjhoux;
Rosa B Barkardottir;
Myrto Barrdahl;
Daniel Barnes;
Daniel Barrowdale;
Caroline Baynes;
Matthias W Beckmann;
Javier Benitez;
Marina Bermisheva;
Leslie Bernstein;
Yves-Jean Bignon;
Kathleen R Blazer;
Marinus J Blok;
Carl Blomqvist;
William Blot;
Kristie Bobolis;
Bram Boeckx;
Natalia V Bogdanova;
Anders Bojesen;
Stig E Bojesen;
Bernardo Bonanni;
Anne-Lise Børresen-Dale;
Aniko Bozsik;
Angela R Bradbury;
Judith S Brand;
Hiltrud Brauch;
Hermann Brenner;
Brigitte Bressac-de Paillerets;
Carole Brewer;
Louise Brinton;
Per Broberg;
Angela Brooks-Wilson;
Joan Brunet;
Thomas Brüning;
Barbara Burwinkel;
Saundra S Buys;
Jinyoung Byun;
Qiuyin Cai;
Trinidad Caldés;
Maria A Caligo;
Ian Campbell;
Federico Canzian;
Olivier Caron;
Angel Carracedo;
Brian D Carter;
J Esteban Castelao;
Laurent Castera;
Virginie Caux-Moncoutier;
Salina B Chan;
Jenny Chang-Claude;
Stephen J Chanock;
Xiaoqing Chen;
Ting-Yuan David Cheng;
Jocelyne Chiquette;
Hans Christiansen;
Kathleen BM Claes;
Christine L Clarke;
Thomas Conner;
Don M Conroy;
Jackie Cook;
Emilie Cordina-Duverger;
Sten Cornelissen;
Isabelle Coupier;
Angela Cox;
David G Cox;
Simon S Cross;
Katarina Cuk;
Julie M Cunningham;
Kamila Czene;
Mary B Daly;
Francesca Damiola;
Hatef Darabi;
Rosemarie Davidson;
Kim De Leeneer;
Peter Devilee;
Ed Dicks;
Orland Diez;
Yuan Chun Ding;
Nina Ditsch;
Kimberly F Doheny;
Susan M Domchek;
Cecilia M Dorfling;
Thilo Dörk;
Isabel Dos-Santos-Silva ;
Stéphane Dubois;
Pierre-Antoine Dugué;
Martine Dumont;
Alison M Dunning;
Lorraine Durcan;
Miriam Dwek;
Bernd Dworniczak;
Diana Eccles;
Ros Eeles;
Hans Ehrencrona;
Ursula Eilber;
Bent Ejlertsen;
Arif B Ekici;
A Heather Eliassen;
EMBRACE;
Christoph Engel;
Mikael Eriksson;
Laura Fachal;
Laurence Faivre;
Peter A Fasching;
Ulrike Faust;
Jonine Figueroa;
Dieter Flesch-Janys;
Olivia Fletcher;
Henrik Flyger;
William D Foulkes;
Eitan Friedman;
Lin Fritschi;
Debra Frost;
Marike Gabrielson;
Pragna Gaddam;
Marilie D Gammon;
Patricia A Ganz;
Susan M Gapstur;
Judy Garber;
Vanesa Garcia-Barberan;
José A García-Sáenz;
Mia M Gaudet;
Marion Gauthier-Villars;
Andrea Gehrig;
GEMO Study Collaborators;
Vassilios Georgoulias;
Anne-Marie Gerdes;
Graham G Giles;
Gord Glendon;
Andrew K Godwin;
Mark S Goldberg;
David E Goldgar;
Anna González-Neira;
Paul Goodfellow;
Mark H Greene;
Grethe I Grenaker Alnæs;
Mervi Grip;
Jacek Gronwald;
Anne Grundy;
Daphne Gschwantler-Kaulich;
Pascal Guénel;
Qi Guo;
Lothar Haeberle;
Eric Hahnen;
Christopher A Haiman;
Niclas Håkansson;
Emily Hallberg;
Ute Hamann;
Nathalie Hamel;
Susan Hankinson;
Thomas VO Hansen;
Patricia Harrington;
Steven N Hart;
Jaana M Hartikainen;
Catherine S Healey;
HEBON;
Alexander Hein;
Sonja Helbig;
Alex Henderson;
Jane Heyworth;
Belynda Hicks;
Peter Hillemanns;
Shirley Hodgson;
Frans B Hogervorst;
Antoinette Hollestelle;
Maartje J Hooning;
Bob Hoover;
John L Hopper;
Chunling Hu;
Guanmengqian Huang;
Peter J Hulick;
Keith Humphreys;
David J Hunter;
Evgeny N Imyanitov;
Claudine Isaacs;
Motoki Iwasaki;
Louise Izatt;
Anna Jakubowska;
Paul James;
Ramunas Janavicius;
Wolfgang Janni;
Uffe Birk Jensen;
Esther M John;
Nichola Johnson;
Kristine Jones;
Michael Jones;
Arja Jukkola-Vuorinen;
Rudolf Kaaks;
Maria Kabisch;
Katarzyna Kaczmarek;
Daehee Kang;
Karin Kast;
kConFab/AOCS Investigators;
Renske Keeman;
Michael J Kerin;
Carolien M Kets;
Machteld Keupers;
Sofia Khan;
Elza Khusnutdinova;
Johanna I Kiiski;
Sung-Won Kim;
Julia A Knight;
Irene Konstantopoulou;
Veli-Matti Kosma;
Vessela N Kristensen;
Torben A Kruse;
Ava Kwong;
Anne-Vibeke Lænkholm;
Yael Laitman;
Fiona Lalloo;
Diether Lambrechts;
Keren Landsman;
Christine Lasset;
Conxi Lazaro;
Loic Le Marchand;
Julie Lecarpentier;
Andrew Lee;
Eunjung Lee;
Jong Won Lee;
Min Hyuk Lee;
Flavio Lejbkowicz;
Fabienne Lesueur;
Jingmei Li;
Jenna Lilyquist;
Anne Lincoln;
Annika Lindblom;
Jolanta Lissowska;
Wing-Yee Lo;
Sibylle Loibl;
Jirong Long;
Jennifer T Loud;
Jan Lubinski;
Craig Luccarini;
Michael Lush;
Robert J MacInnis;
Tom Maishman;
Enes Makalic;
Ivana Maleva Kostovska;
Kathleen E Malone;
Siranoush Manoukian;
JoAnn E Manson;
Sara Margolin;
John WM Martens;
Maria Elena Martinez;
Keitaro Matsuo;
Dimitrios Mavroudis;
Sylvie Mazoyer;
Catriona McLean;
Hanne Meijers-Heijboer;
Primitiva Menéndez;
Jeffery Meyer;
Hui Miao;
Austin Miller;
Nicola Miller;
Gillian Mitchell;
Marco Montagna;
Kenneth Muir;
Anna Marie Mulligan;
Claire Mulot;
Sue Nadesan;
Katherine L Nathanson;
NBSC Collaborators;
Susan L Neuhausen;
Heli Nevanlinna;
Ines Nevelsteen;
Dieter Niederacher;
Sune F Nielsen;
Børge G Nordestgaard;
Aaron Norman;
Robert L Nussbaum;
Edith Olah;
Olufunmilayo I Olopade;
Janet E Olson;
Curtis Olswold;
Kai-Ren Ong;
Jan C Oosterwijk;
Nick Orr;
Ana Osorio;
V Shane Pankratz;
Laura Papi;
Tjoung-Won Park-Simon;
Ylva Paulsson-Karlsson;
Rachel Lloyd;
Inge Søkilde Pedersen;
Bernard Peissel;
Ana Peixoto;
Jose IA Perez;
Paolo Peterlongo;
Julian Peto ;
Georg Pfeiler;
Catherine M Phelan;
Mila Pinchev;
Dijana Plaseska-Karanfilska;
Bruce Poppe;
Mary E Porteous;
Ross Prentice;
Nadege Presneau;
Darya Prokofieva;
Elizabeth Pugh;
Miquel Angel Pujana;
Katri Pylkäs;
Brigitte Rack;
Paolo Radice;
Nazneen Rahman;
Johanna Rantala;
Christine Rappaport-Fuerhauser;
Gad Rennert;
Hedy S Rennert;
Valerie Rhenius;
Kerstin Rhiem;
Andrea Richardson;
Gustavo C Rodriguez;
Atocha Romero;
Jane Romm;
Matti A Rookus;
Anja Rudolph;
Thomas Ruediger;
Emmanouil Saloustros;
Joyce Sanders;
Dale P Sandler;
Suleeporn Sangrajrang;
Elinor J Sawyer;
Daniel F Schmidt;
Minouk J Schoemaker;
Fredrick Schumacher;
Peter Schürmann;
Lukas Schwentner;
Christopher Scott;
Rodney J Scott;
Sheila Seal;
Leigha Senter;
Caroline Seynaeve;
Mitul Shah;
Priyanka Sharma;
Chen-Yang Shen;
Xin Sheng;
Hermela Shimelis;
Martha J Shrubsole;
Xiao-Ou Shu;
Lucy E Side;
Christian F Singer;
Christof Sohn;
Melissa C Southey;
John J Spinelli;
Amanda B Spurdle;
Christa Stegmaier;
Dominique Stoppa-Lyonnet;
Grzegorz Sukiennicki;
Harald Surowy;
Christian Sutter;
Anthony Swerdlow;
Csilla I Szabo;
Rulla M Tamimi;
Yen Y Tan;
Jack A Taylor;
Maria-Isabel Tejada;
Maria Tengström;
Soo H Teo;
Mary B Terry;
Daniel C Tessier;
Alex Teulé;
Kathrin Thöne;
Darcy L Thull;
Maria Grazia Tibiletti;
Laima Tihomirova;
Marc Tischkowitz;
Amanda E Toland;
Rob AEM Tollenaar;
Ian Tomlinson;
Ling Tong;
Diana Torres;
Martine Tranchant;
Thérèse Truong;
Kathy Tucker;
Nadine Tung;
Jonathan Tyrer;
Hans-Ulrich Ulmer;
Celine Vachon;
Christi J van Asperen;
David Van Den Berg;
Ans MW van den Ouweland;
Elizabeth J van Rensburg;
Liliana Varesco;
Raymonda Varon-Mateeva;
Ana Vega;
Alessandra Viel;
Joseph Vijai;
Daniel Vincent;
Jason Vollenweider;
Lisa Walker;
Zhaoming Wang;
Shan Wang-Gohrke;
Barbara Wappenschmidt;
Clarice R Weinberg;
Jeffrey N Weitzel;
Camilla Wendt;
Jelle Wesseling;
Alice S Whittemore;
Juul T Wijnen;
Walter Willett;
Robert Winqvist;
Alicja Wolk;
Anna H Wu;
Lucy Xia;
Xiaohong R Yang;
Drakoulis Yannoukakos;
Daniela Zaffaroni;
Wei Zheng;
Bin Zhu;
Argyrios Ziogas;
Elad Ziv;
Kristin K Zorn;
Manuela Gago-Dominguez;
Arto Mannermaa;
Håkan Olsson;
Manuel R Teixeira;
Jennifer Stone;
Kenneth Offit;
Laura Ottini;
Sue K Park;
Mads Thomassen;
Per Hall;
Alfons Meindl;
Rita K Schmutzler;
Arnaud Droit;
Gary D Bader ;
Paul DP Pharoah ;
Fergus J Couch;
Douglas F Easton;
Peter Kraft;
Georgia Chenevix-Trench;
Montserrat García-Closas;
Marjanka K Schmidt;
Antonis C Antoniou;
Jacques Simard;
(2017)
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
Nature genetics, 49 (12).
pp. 1767-1778.
ISSN 1061-4036
DOI: 10.1038/ng.3785
;
Karoline B Kuchenbaecker;
Kyriaki Michailidou;
Jonathan Beesley;
Siddhartha Kar;
Sara Lindström;
Shirley Hui;
Audrey Lemaçon;
Penny Soucy;
Joe Dennis;
+466 more...
Xia Jiang;
Asha Rostamianfar;
Hilary Finucane;
Manjeet K Bolla;
Lesley McGuffog;
Qin Wang;
Cora M Aalfs;
ABCTB Investigators;
Marcia Adams;
Julian Adlard;
Simona Agata;
Shahana Ahmed;
Habibul Ahsan;
Kristiina Aittomäki;
Fares Al-Ejeh;
Jamie Allen;
Christine B Ambrosone;
Christopher I Amos;
Irene L Andrulis;
Hoda Anton-Culver;
Natalia N Antonenkova;
Volker Arndt;
Norbert Arnold;
Kristan J Aronson;
Bernd Auber;
Paul L Auer;
Margreet GEM Ausems;
Jacopo Azzollini;
François Bacot;
Judith Balmaña;
Monica Barile;
Laure Barjhoux;
Rosa B Barkardottir;
Myrto Barrdahl;
Daniel Barnes;
Daniel Barrowdale;
Caroline Baynes;
Matthias W Beckmann;
Javier Benitez;
Marina Bermisheva;
Leslie Bernstein;
Yves-Jean Bignon;
Kathleen R Blazer;
Marinus J Blok;
Carl Blomqvist;
William Blot;
Kristie Bobolis;
Bram Boeckx;
Natalia V Bogdanova;
Anders Bojesen;
Stig E Bojesen;
Bernardo Bonanni;
Anne-Lise Børresen-Dale;
Aniko Bozsik;
Angela R Bradbury;
Judith S Brand;
Hiltrud Brauch;
Hermann Brenner;
Brigitte Bressac-de Paillerets;
Carole Brewer;
Louise Brinton;
Per Broberg;
Angela Brooks-Wilson;
Joan Brunet;
Thomas Brüning;
Barbara Burwinkel;
Saundra S Buys;
Jinyoung Byun;
Qiuyin Cai;
Trinidad Caldés;
Maria A Caligo;
Ian Campbell;
Federico Canzian;
Olivier Caron;
Angel Carracedo;
Brian D Carter;
J Esteban Castelao;
Laurent Castera;
Virginie Caux-Moncoutier;
Salina B Chan;
Jenny Chang-Claude;
Stephen J Chanock;
Xiaoqing Chen;
Ting-Yuan David Cheng;
Jocelyne Chiquette;
Hans Christiansen;
Kathleen BM Claes;
Christine L Clarke;
Thomas Conner;
Don M Conroy;
Jackie Cook;
Emilie Cordina-Duverger;
Sten Cornelissen;
Isabelle Coupier;
Angela Cox;
David G Cox;
Simon S Cross;
Katarina Cuk;
Julie M Cunningham;
Kamila Czene;
Mary B Daly;
Francesca Damiola;
Hatef Darabi;
Rosemarie Davidson;
Kim De Leeneer;
Peter Devilee;
Ed Dicks;
Orland Diez;
Yuan Chun Ding;
Nina Ditsch;
Kimberly F Doheny;
Susan M Domchek;
Cecilia M Dorfling;
Thilo Dörk;
Isabel Dos-Santos-Silva ;
Stéphane Dubois;
Pierre-Antoine Dugué;
Martine Dumont;
Alison M Dunning;
Lorraine Durcan;
Miriam Dwek;
Bernd Dworniczak;
Diana Eccles;
Ros Eeles;
Hans Ehrencrona;
Ursula Eilber;
Bent Ejlertsen;
Arif B Ekici;
A Heather Eliassen;
EMBRACE;
Christoph Engel;
Mikael Eriksson;
Laura Fachal;
Laurence Faivre;
Peter A Fasching;
Ulrike Faust;
Jonine Figueroa;
Dieter Flesch-Janys;
Olivia Fletcher;
Henrik Flyger;
William D Foulkes;
Eitan Friedman;
Lin Fritschi;
Debra Frost;
Marike Gabrielson;
Pragna Gaddam;
Marilie D Gammon;
Patricia A Ganz;
Susan M Gapstur;
Judy Garber;
Vanesa Garcia-Barberan;
José A García-Sáenz;
Mia M Gaudet;
Marion Gauthier-Villars;
Andrea Gehrig;
GEMO Study Collaborators;
Vassilios Georgoulias;
Anne-Marie Gerdes;
Graham G Giles;
Gord Glendon;
Andrew K Godwin;
Mark S Goldberg;
David E Goldgar;
Anna González-Neira;
Paul Goodfellow;
Mark H Greene;
Grethe I Grenaker Alnæs;
Mervi Grip;
Jacek Gronwald;
Anne Grundy;
Daphne Gschwantler-Kaulich;
Pascal Guénel;
Qi Guo;
Lothar Haeberle;
Eric Hahnen;
Christopher A Haiman;
Niclas Håkansson;
Emily Hallberg;
Ute Hamann;
Nathalie Hamel;
Susan Hankinson;
Thomas VO Hansen;
Patricia Harrington;
Steven N Hart;
Jaana M Hartikainen;
Catherine S Healey;
HEBON;
Alexander Hein;
Sonja Helbig;
Alex Henderson;
Jane Heyworth;
Belynda Hicks;
Peter Hillemanns;
Shirley Hodgson;
Frans B Hogervorst;
Antoinette Hollestelle;
Maartje J Hooning;
Bob Hoover;
John L Hopper;
Chunling Hu;
Guanmengqian Huang;
Peter J Hulick;
Keith Humphreys;
David J Hunter;
Evgeny N Imyanitov;
Claudine Isaacs;
Motoki Iwasaki;
Louise Izatt;
Anna Jakubowska;
Paul James;
Ramunas Janavicius;
Wolfgang Janni;
Uffe Birk Jensen;
Esther M John;
Nichola Johnson;
Kristine Jones;
Michael Jones;
Arja Jukkola-Vuorinen;
Rudolf Kaaks;
Maria Kabisch;
Katarzyna Kaczmarek;
Daehee Kang;
Karin Kast;
kConFab/AOCS Investigators;
Renske Keeman;
Michael J Kerin;
Carolien M Kets;
Machteld Keupers;
Sofia Khan;
Elza Khusnutdinova;
Johanna I Kiiski;
Sung-Won Kim;
Julia A Knight;
Irene Konstantopoulou;
Veli-Matti Kosma;
Vessela N Kristensen;
Torben A Kruse;
Ava Kwong;
Anne-Vibeke Lænkholm;
Yael Laitman;
Fiona Lalloo;
Diether Lambrechts;
Keren Landsman;
Christine Lasset;
Conxi Lazaro;
Loic Le Marchand;
Julie Lecarpentier;
Andrew Lee;
Eunjung Lee;
Jong Won Lee;
Min Hyuk Lee;
Flavio Lejbkowicz;
Fabienne Lesueur;
Jingmei Li;
Jenna Lilyquist;
Anne Lincoln;
Annika Lindblom;
Jolanta Lissowska;
Wing-Yee Lo;
Sibylle Loibl;
Jirong Long;
Jennifer T Loud;
Jan Lubinski;
Craig Luccarini;
Michael Lush;
Robert J MacInnis;
Tom Maishman;
Enes Makalic;
Ivana Maleva Kostovska;
Kathleen E Malone;
Siranoush Manoukian;
JoAnn E Manson;
Sara Margolin;
John WM Martens;
Maria Elena Martinez;
Keitaro Matsuo;
Dimitrios Mavroudis;
Sylvie Mazoyer;
Catriona McLean;
Hanne Meijers-Heijboer;
Primitiva Menéndez;
Jeffery Meyer;
Hui Miao;
Austin Miller;
Nicola Miller;
Gillian Mitchell;
Marco Montagna;
Kenneth Muir;
Anna Marie Mulligan;
Claire Mulot;
Sue Nadesan;
Katherine L Nathanson;
NBSC Collaborators;
Susan L Neuhausen;
Heli Nevanlinna;
Ines Nevelsteen;
Dieter Niederacher;
Sune F Nielsen;
Børge G Nordestgaard;
Aaron Norman;
Robert L Nussbaum;
Edith Olah;
Olufunmilayo I Olopade;
Janet E Olson;
Curtis Olswold;
Kai-Ren Ong;
Jan C Oosterwijk;
Nick Orr;
Ana Osorio;
V Shane Pankratz;
Laura Papi;
Tjoung-Won Park-Simon;
Ylva Paulsson-Karlsson;
Rachel Lloyd;
Inge Søkilde Pedersen;
Bernard Peissel;
Ana Peixoto;
Jose IA Perez;
Paolo Peterlongo;
Julian Peto ;
Georg Pfeiler;
Catherine M Phelan;
Mila Pinchev;
Dijana Plaseska-Karanfilska;
Bruce Poppe;
Mary E Porteous;
Ross Prentice;
Nadege Presneau;
Darya Prokofieva;
Elizabeth Pugh;
Miquel Angel Pujana;
Katri Pylkäs;
Brigitte Rack;
Paolo Radice;
Nazneen Rahman;
Johanna Rantala;
Christine Rappaport-Fuerhauser;
Gad Rennert;
Hedy S Rennert;
Valerie Rhenius;
Kerstin Rhiem;
Andrea Richardson;
Gustavo C Rodriguez;
Atocha Romero;
Jane Romm;
Matti A Rookus;
Anja Rudolph;
Thomas Ruediger;
Emmanouil Saloustros;
Joyce Sanders;
Dale P Sandler;
Suleeporn Sangrajrang;
Elinor J Sawyer;
Daniel F Schmidt;
Minouk J Schoemaker;
Fredrick Schumacher;
Peter Schürmann;
Lukas Schwentner;
Christopher Scott;
Rodney J Scott;
Sheila Seal;
Leigha Senter;
Caroline Seynaeve;
Mitul Shah;
Priyanka Sharma;
Chen-Yang Shen;
Xin Sheng;
Hermela Shimelis;
Martha J Shrubsole;
Xiao-Ou Shu;
Lucy E Side;
Christian F Singer;
Christof Sohn;
Melissa C Southey;
John J Spinelli;
Amanda B Spurdle;
Christa Stegmaier;
Dominique Stoppa-Lyonnet;
Grzegorz Sukiennicki;
Harald Surowy;
Christian Sutter;
Anthony Swerdlow;
Csilla I Szabo;
Rulla M Tamimi;
Yen Y Tan;
Jack A Taylor;
Maria-Isabel Tejada;
Maria Tengström;
Soo H Teo;
Mary B Terry;
Daniel C Tessier;
Alex Teulé;
Kathrin Thöne;
Darcy L Thull;
Maria Grazia Tibiletti;
Laima Tihomirova;
Marc Tischkowitz;
Amanda E Toland;
Rob AEM Tollenaar;
Ian Tomlinson;
Ling Tong;
Diana Torres;
Martine Tranchant;
Thérèse Truong;
Kathy Tucker;
Nadine Tung;
Jonathan Tyrer;
Hans-Ulrich Ulmer;
Celine Vachon;
Christi J van Asperen;
David Van Den Berg;
Ans MW van den Ouweland;
Elizabeth J van Rensburg;
Liliana Varesco;
Raymonda Varon-Mateeva;
Ana Vega;
Alessandra Viel;
Joseph Vijai;
Daniel Vincent;
Jason Vollenweider;
Lisa Walker;
Zhaoming Wang;
Shan Wang-Gohrke;
Barbara Wappenschmidt;
Clarice R Weinberg;
Jeffrey N Weitzel;
Camilla Wendt;
Jelle Wesseling;
Alice S Whittemore;
Juul T Wijnen;
Walter Willett;
Robert Winqvist;
Alicja Wolk;
Anna H Wu;
Lucy Xia;
Xiaohong R Yang;
Drakoulis Yannoukakos;
Daniela Zaffaroni;
Wei Zheng;
Bin Zhu;
Argyrios Ziogas;
Elad Ziv;
Kristin K Zorn;
Manuela Gago-Dominguez;
Arto Mannermaa;
Håkan Olsson;
Manuel R Teixeira;
Jennifer Stone;
Kenneth Offit;
Laura Ottini;
Sue K Park;
Mads Thomassen;
Per Hall;
Alfons Meindl;
Rita K Schmutzler;
Arnaud Droit;
Gary D Bader ;
Paul DP Pharoah ;
Fergus J Couch;
Douglas F Easton;
Peter Kraft;
Georgia Chenevix-Trench;
Montserrat García-Closas;
Marjanka K Schmidt;
Antonis C Antoniou;
Jacques Simard;
(2017)
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
Nature genetics, 49 (12).
pp. 1767-1778.
ISSN 1061-4036
DOI: 10.1038/ng.3785
Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 × 10-8 with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1 mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies. These 125 variants explain approximately 16% of the familial risk of this breast cancer subtype. There was high genetic correlation (0.72) between risk of ER-negative breast cancer and breast cancer risk for BRCA1 mutation carriers. These findings may lead to improved risk prediction and inform further fine-mapping and functional work to better understand the biological basis of ER-negative breast cancer.
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picture_as_pdf - Identification-of-ten-variants-associated-with-risk-of-estrogen-receptor....pdf
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subject - Accepted Version
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