Association analysis identifies 65 new breast cancer risk loci.
Kyriaki Michailidou;
Sara Lindström;
Joe Dennis;
Jonathan Beesley;
Shirley Hui;
Siddhartha Kar;
Audrey Lemaçon;
Penny Soucy;
Dylan Glubb;
Asha Rostamianfar;
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Manjeet K Bolla;
Qin Wang;
Jonathan Tyrer;
Ed Dicks;
Andrew Lee;
Zhaoming Wang;
Jamie Allen;
Renske Keeman;
Ursula Eilber;
Juliet D French;
Xiao Qing Chen;
Laura Fachal;
Karen McCue;
Amy E McCart Reed;
Maya Ghoussaini;
Jason S Carroll;
Xia Jiang;
Hilary Finucane;
Marcia Adams;
Muriel A Adank;
Habibul Ahsan;
Kristiina Aittomäki;
Hoda Anton-Culver;
Natalia N Antonenkova;
Volker Arndt;
Kristan J Aronson;
Banu Arun;
Paul L Auer;
François Bacot;
Myrto Barrdahl;
Caroline Baynes;
Matthias W Beckmann;
Sabine Behrens;
Javier Benitez;
Marina Bermisheva;
Leslie Bernstein;
Carl Blomqvist;
Natalia V Bogdanova;
Stig E Bojesen;
Bernardo Bonanni;
Anne-Lise Børresen-Dale;
Judith S Brand;
Hiltrud Brauch;
Paul Brennan;
Hermann Brenner;
Louise Brinton;
Per Broberg;
Ian W Brock;
Annegien Broeks;
Angela Brooks-Wilson;
Sara Y Brucker;
Thomas Brüning;
Barbara Burwinkel;
Katja Butterbach;
Qiuyin Cai;
Hui Cai;
Trinidad Caldés;
Federico Canzian;
Angel Carracedo;
Brian D Carter;
Jose E Castelao;
Tsun L Chan;
Ting-Yuan David Cheng;
Kee Seng Chia;
Ji-Yeob Choi;
Hans Christiansen;
Christine L Clarke;
NBCS Collaborators;
Margriet Collée;
Don M Conroy;
Emilie Cordina-Duverger;
Sten Cornelissen;
David G Cox;
Angela Cox;
Simon S Cross;
Julie M Cunningham;
Kamila Czene;
Mary B Daly;
Peter Devilee;
Kimberly F Doheny;
Thilo Dörk;
Isabel Dos-Santos-Silva 
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Martine Dumont;
Lorraine Durcan;
Miriam Dwek;
Diana M Eccles;
Arif B Ekici;
A Heather Eliassen;
Carolina Ellberg;
Mingajeva Elvira;
Christoph Engel;
Mikael Eriksson;
Peter A Fasching;
Jonine Figueroa;
Dieter Flesch-Janys;
Olivia Fletcher;
Henrik Flyger;
Lin Fritschi;
Valerie Gaborieau;
Marike Gabrielson;
Manuela Gago-Dominguez;
Yu-Tang Gao;
Susan M Gapstur;
José A García-Sáenz;
Mia M Gaudet;
Vassilios Georgoulias;
Graham G Giles;
Gord Glendon;
Mark S Goldberg;
David E Goldgar;
Anna González-Neira;
Grethe I Grenaker Alnæs;
Mervi Grip;
Jacek Gronwald;
Anne Grundy;
Pascal Guénel;
Lothar Haeberle;
Eric Hahnen;
Christopher A Haiman;
Niclas Håkansson;
Ute Hamann;
Nathalie Hamel;
Susan Hankinson;
Patricia Harrington;
Steven N Hart;
Jaana M Hartikainen;
Mikael Hartman;
Alexander Hein;
Jane Heyworth;
Belynda Hicks;
Peter Hillemanns;
Dona N Ho;
Antoinette Hollestelle;
Maartje J Hooning;
Robert N Hoover;
John L Hopper;
Ming-Feng Hou;
Chia-Ni Hsiung;
Guanmengqian Huang;
Keith Humphreys;
Junko Ishiguro;
Hidemi Ito;
Motoki Iwasaki;
Hiroji Iwata;
Anna Jakubowska;
Wolfgang Janni;
Esther M John;
Nichola Johnson;
Kristine Jones;
Michael Jones;
Arja Jukkola-Vuorinen;
Rudolf Kaaks;
Maria Kabisch;
Katarzyna Kaczmarek;
Daehee Kang;
Yoshio Kasuga;
Michael J Kerin;
Sofia Khan;
Elza Khusnutdinova;
Johanna I Kiiski;
Sung-Won Kim;
Julia A Knight;
Veli-Matti Kosma;
Vessela N Kristensen;
Ute Krüger;
Ava Kwong;
Diether Lambrechts;
Loic Le Marchand;
Eunjung Lee;
Min Hyuk Lee;
Jong Won Lee;
Chuen Neng Lee;
Flavio Lejbkowicz;
Jingmei Li;
Jenna Lilyquist;
Annika Lindblom;
Jolanta Lissowska;
Wing-Yee Lo;
Sibylle Loibl;
Jirong Long;
Artitaya Lophatananon;
Jan Lubinski;
Craig Luccarini;
Michael P Lux;
Edmond SK Ma;
Robert J MacInnis;
Tom Maishman;
Enes Makalic;
Kathleen E Malone;
Ivana Maleva Kostovska;
Arto Mannermaa;
Siranoush Manoukian;
JoAnn E Manson;
Sara Margolin;
Shivaani Mariapun;
Maria Elena Martinez;
Keitaro Matsuo;
Dimitrios Mavroudis;
James McKay;
Catriona McLean;
Hanne Meijers-Heijboer;
Alfons Meindl;
Primitiva Menéndez;
Usha Menon;
Jeffery Meyer;
Hui Miao;
Nicola Miller;
Nur Aishah Mohd Taib;
Kenneth Muir;
Anna Marie Mulligan;
Claire Mulot;
Susan L Neuhausen;
Heli Nevanlinna;
Patrick Neven;
Sune F Nielsen;
Dong-Young Noh;
Børge G Nordestgaard;
Aaron Norman;
Olufunmilayo I Olopade;
Janet E Olson;
Håkan Olsson;
Curtis Olswold;
Nick Orr;
V Shane Pankratz;
Sue K Park;
Tjoung-Won Park-Simon;
Rachel Lloyd;
Jose IA Perez;
Paolo Peterlongo;
Julian Peto ;
Kelly-Anne Phillips;
Mila Pinchev;
Dijana Plaseska-Karanfilska;
Ross Prentice;
Nadege Presneau;
Darya Prokofyeva;
Elizabeth Pugh;
Katri Pylkäs;
Brigitte Rack;
Paolo Radice;
Nazneen Rahman;
Gadi Rennert;
Hedy S Rennert;
Valerie Rhenius;
Atocha Romero;
Jane Romm;
Kathryn J Ruddy;
Thomas Rüdiger;
Anja Rudolph;
Matthias Ruebner;
Emiel JT Rutgers;
Emmanouil Saloustros;
Dale P Sandler;
Suleeporn Sangrajrang;
Elinor J Sawyer;
Daniel F Schmidt;
Rita K Schmutzler;
Andreas Schneeweiss;
Minouk J Schoemaker;
Fredrick Schumacher;
Peter Schürmann;
Rodney J Scott;
Christopher Scott;
Sheila Seal;
Caroline Seynaeve;
Mitul Shah;
Priyanka Sharma;
Chen-Yang Shen;
Grace Sheng;
Mark E Sherman;
Martha J Shrubsole;
Xiao-Ou Shu;
Ann Smeets;
Christof Sohn;
Melissa C Southey;
John J Spinelli;
Christa Stegmaier;
Sarah Stewart-Brown;
Jennifer Stone;
Daniel O Stram;
Harald Surowy;
Anthony Swerdlow;
Rulla Tamimi;
Jack A Taylor;
Maria Tengström;
Soo H Teo;
Mary Beth Terry;
Daniel C Tessier;
Somchai Thanasitthichai;
Kathrin Thöne;
Rob AEM Tollenaar;
Ian Tomlinson;
Ling Tong;
Diana Torres;
Thérèse Truong;
Chiu-Chen Tseng;
Shoichiro Tsugane;
Hans-Ulrich Ulmer;
Giske Ursin;
Michael Untch;
Celine Vachon;
Christi J van Asperen;
David Van Den Berg;
Ans MW van den Ouweland;
Lizet van der Kolk;
Rob B van der Luijt;
Daniel Vincent;
Jason Vollenweider;
Quinten Waisfisz;
Shan Wang-Gohrke;
Clarice R Weinberg;
Camilla Wendt;
Alice S Whittemore;
Hans Wildiers;
Walter Willett;
Robert Winqvist;
Alicja Wolk;
Anna H Wu;
Lucy Xia;
Taiki Yamaji;
Xiaohong R Yang;
Cheng Har Yip;
Keun-Young Yoo;
Jyh-Cherng Yu;
Wei Zheng;
Ying Zheng;
Bin Zhu;
Argyrios Ziogas;
Elad Ziv;
ABCTB Investigators;
ConFab/AOCS Investigators;
Sunil R Lakhani;
Antonis C Antoniou;
Arnaud Droit;
Irene L Andrulis;
Christopher I Amos;
Fergus J Couch;
Paul DP Pharoah;
Jenny Chang-Claude;
Per Hall;
David J Hunter;
Roger L Milne;
Montserrat García-Closas;
Marjanka K Schmidt;
Stephen J Chanock;
Alison M Dunning;
Stacey L Edwards;
Gary D Bader;
Georgia Chenevix-Trench;
Jacques Simard;
Peter Kraft;
Douglas F Easton;
(2017)
Association analysis identifies 65 new breast cancer risk loci.
Nature, 551 (7678).
pp. 92-94.
ISSN 0028-0836
DOI: 10.1038/nature24284
;
Martine Dumont;
Lorraine Durcan;
Miriam Dwek;
Diana M Eccles;
Arif B Ekici;
A Heather Eliassen;
Carolina Ellberg;
Mingajeva Elvira;
Christoph Engel;
Mikael Eriksson;
Peter A Fasching;
Jonine Figueroa;
Dieter Flesch-Janys;
Olivia Fletcher;
Henrik Flyger;
Lin Fritschi;
Valerie Gaborieau;
Marike Gabrielson;
Manuela Gago-Dominguez;
Yu-Tang Gao;
Susan M Gapstur;
José A García-Sáenz;
Mia M Gaudet;
Vassilios Georgoulias;
Graham G Giles;
Gord Glendon;
Mark S Goldberg;
David E Goldgar;
Anna González-Neira;
Grethe I Grenaker Alnæs;
Mervi Grip;
Jacek Gronwald;
Anne Grundy;
Pascal Guénel;
Lothar Haeberle;
Eric Hahnen;
Christopher A Haiman;
Niclas Håkansson;
Ute Hamann;
Nathalie Hamel;
Susan Hankinson;
Patricia Harrington;
Steven N Hart;
Jaana M Hartikainen;
Mikael Hartman;
Alexander Hein;
Jane Heyworth;
Belynda Hicks;
Peter Hillemanns;
Dona N Ho;
Antoinette Hollestelle;
Maartje J Hooning;
Robert N Hoover;
John L Hopper;
Ming-Feng Hou;
Chia-Ni Hsiung;
Guanmengqian Huang;
Keith Humphreys;
Junko Ishiguro;
Hidemi Ito;
Motoki Iwasaki;
Hiroji Iwata;
Anna Jakubowska;
Wolfgang Janni;
Esther M John;
Nichola Johnson;
Kristine Jones;
Michael Jones;
Arja Jukkola-Vuorinen;
Rudolf Kaaks;
Maria Kabisch;
Katarzyna Kaczmarek;
Daehee Kang;
Yoshio Kasuga;
Michael J Kerin;
Sofia Khan;
Elza Khusnutdinova;
Johanna I Kiiski;
Sung-Won Kim;
Julia A Knight;
Veli-Matti Kosma;
Vessela N Kristensen;
Ute Krüger;
Ava Kwong;
Diether Lambrechts;
Loic Le Marchand;
Eunjung Lee;
Min Hyuk Lee;
Jong Won Lee;
Chuen Neng Lee;
Flavio Lejbkowicz;
Jingmei Li;
Jenna Lilyquist;
Annika Lindblom;
Jolanta Lissowska;
Wing-Yee Lo;
Sibylle Loibl;
Jirong Long;
Artitaya Lophatananon;
Jan Lubinski;
Craig Luccarini;
Michael P Lux;
Edmond SK Ma;
Robert J MacInnis;
Tom Maishman;
Enes Makalic;
Kathleen E Malone;
Ivana Maleva Kostovska;
Arto Mannermaa;
Siranoush Manoukian;
JoAnn E Manson;
Sara Margolin;
Shivaani Mariapun;
Maria Elena Martinez;
Keitaro Matsuo;
Dimitrios Mavroudis;
James McKay;
Catriona McLean;
Hanne Meijers-Heijboer;
Alfons Meindl;
Primitiva Menéndez;
Usha Menon;
Jeffery Meyer;
Hui Miao;
Nicola Miller;
Nur Aishah Mohd Taib;
Kenneth Muir;
Anna Marie Mulligan;
Claire Mulot;
Susan L Neuhausen;
Heli Nevanlinna;
Patrick Neven;
Sune F Nielsen;
Dong-Young Noh;
Børge G Nordestgaard;
Aaron Norman;
Olufunmilayo I Olopade;
Janet E Olson;
Håkan Olsson;
Curtis Olswold;
Nick Orr;
V Shane Pankratz;
Sue K Park;
Tjoung-Won Park-Simon;
Rachel Lloyd;
Jose IA Perez;
Paolo Peterlongo;
Julian Peto ;
Kelly-Anne Phillips;
Mila Pinchev;
Dijana Plaseska-Karanfilska;
Ross Prentice;
Nadege Presneau;
Darya Prokofyeva;
Elizabeth Pugh;
Katri Pylkäs;
Brigitte Rack;
Paolo Radice;
Nazneen Rahman;
Gadi Rennert;
Hedy S Rennert;
Valerie Rhenius;
Atocha Romero;
Jane Romm;
Kathryn J Ruddy;
Thomas Rüdiger;
Anja Rudolph;
Matthias Ruebner;
Emiel JT Rutgers;
Emmanouil Saloustros;
Dale P Sandler;
Suleeporn Sangrajrang;
Elinor J Sawyer;
Daniel F Schmidt;
Rita K Schmutzler;
Andreas Schneeweiss;
Minouk J Schoemaker;
Fredrick Schumacher;
Peter Schürmann;
Rodney J Scott;
Christopher Scott;
Sheila Seal;
Caroline Seynaeve;
Mitul Shah;
Priyanka Sharma;
Chen-Yang Shen;
Grace Sheng;
Mark E Sherman;
Martha J Shrubsole;
Xiao-Ou Shu;
Ann Smeets;
Christof Sohn;
Melissa C Southey;
John J Spinelli;
Christa Stegmaier;
Sarah Stewart-Brown;
Jennifer Stone;
Daniel O Stram;
Harald Surowy;
Anthony Swerdlow;
Rulla Tamimi;
Jack A Taylor;
Maria Tengström;
Soo H Teo;
Mary Beth Terry;
Daniel C Tessier;
Somchai Thanasitthichai;
Kathrin Thöne;
Rob AEM Tollenaar;
Ian Tomlinson;
Ling Tong;
Diana Torres;
Thérèse Truong;
Chiu-Chen Tseng;
Shoichiro Tsugane;
Hans-Ulrich Ulmer;
Giske Ursin;
Michael Untch;
Celine Vachon;
Christi J van Asperen;
David Van Den Berg;
Ans MW van den Ouweland;
Lizet van der Kolk;
Rob B van der Luijt;
Daniel Vincent;
Jason Vollenweider;
Quinten Waisfisz;
Shan Wang-Gohrke;
Clarice R Weinberg;
Camilla Wendt;
Alice S Whittemore;
Hans Wildiers;
Walter Willett;
Robert Winqvist;
Alicja Wolk;
Anna H Wu;
Lucy Xia;
Taiki Yamaji;
Xiaohong R Yang;
Cheng Har Yip;
Keun-Young Yoo;
Jyh-Cherng Yu;
Wei Zheng;
Ying Zheng;
Bin Zhu;
Argyrios Ziogas;
Elad Ziv;
ABCTB Investigators;
ConFab/AOCS Investigators;
Sunil R Lakhani;
Antonis C Antoniou;
Arnaud Droit;
Irene L Andrulis;
Christopher I Amos;
Fergus J Couch;
Paul DP Pharoah;
Jenny Chang-Claude;
Per Hall;
David J Hunter;
Roger L Milne;
Montserrat García-Closas;
Marjanka K Schmidt;
Stephen J Chanock;
Alison M Dunning;
Stacey L Edwards;
Gary D Bader;
Georgia Chenevix-Trench;
Jacques Simard;
Peter Kraft;
Douglas F Easton;
(2017)
Association analysis identifies 65 new breast cancer risk loci.
Nature, 551 (7678).
pp. 92-94.
ISSN 0028-0836
DOI: 10.1038/nature24284
Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-coding variants. However, much of the genetic contribution to breast cancer risk remains unknown. Here we report the results of a genome-wide association study of breast cancer in 122,977 cases and 105,974 controls of European ancestry and 14,068 cases and 13,104 controls of East Asian ancestry. We identified 65 new loci that are associated with overall breast cancer risk at P < 5 × 10-8. The majority of credible risk single-nucleotide polymorphisms in these loci fall in distal regulatory elements, and by integrating in silico data to predict target genes in breast cells at each locus, we demonstrate a strong overlap between candidate target genes and somatic driver genes in breast tumours. We also find that heritability of breast cancer due to all single-nucleotide polymorphisms in regulatory features was 2-5-fold enriched relative to the genome-wide average, with strong enrichment for particular transcription factor binding sites. These results provide further insight into genetic susceptibility to breast cancer and will improve the use of genetic risk scores for individualized screening and prevention.
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