Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
Laura Fachal
,
Hugues Aschard
(1)
,
Jonathan Beesley
(2)
,
Daniel Barnes
(3)
,
Jamie Allen
(4)
,
Siddhartha Kar
,
Karen Pooley
,
Joe Dennis
(3)
,
Kyriaki Michailidou
(5)
,
Constance Turman
(6)
,
Penny Soucy
,
Audrey Lemaçon
,
Michael Lush
,
Jonathan Tyrer
,
Maya Ghoussaini
,
Mahdi Moradi Marjaneh
,
Xia Jiang
,
Simona Agata
,
Kristiina Aittomäki
,
M Rosario Alonso
,
Irene Andrulis
,
Hoda Anton-Culver
,
Natalia Antonenkova
,
Adalgeir Arason
,
Volker Arndt
,
Kristan Aronson
,
Banu Arun
,
Bernd Auber
,
Paul Auer
,
Jacopo Azzollini
,
Judith Balmaña
,
Rosa Barkardottir
,
Daniel Barrowdale
,
Alicia Beeghly-Fadiel
,
Javier Benitez
,
Marina Bermisheva
,
Katarzyna Białkowska
,
Amie Blanco
,
Carl Blomqvist
,
William Blot
,
Natalia Bogdanova
,
Stig Bojesen
,
Manjeet Bolla
,
Bernardo Bonanni
,
Ake Borg
,
Kristin Bosse
,
Hiltrud Brauch
,
Hermann Brenner
,
Ignacio Briceno
,
Ian Brock
,
Angela Brooks-Wilson
,
Thomas Brüning
,
Barbara Burwinkel
,
Saundra Buys
,
Qiuyin Cai
,
Trinidad Caldés
,
Maria Caligo
,
Nicola Camp
,
Ian Campbell
,
Federico Canzian
,
Jason Carroll
,
Brian Carter
,
Jose Castelao
,
Jocelyne Chiquette
,
Hans Christiansen
,
Wendy Chung
,
Kathleen Claes
,
Christine Clarke
,
J Margriet Collée
,
Sten Cornelissen
,
Fergus Couch
,
Angela Cox
,
Simon Cross
,
Cezary Cybulski
,
Kamila Czene
,
Mary Daly
,
Miguel de La Hoya
,
Peter Devilee
,
Orland Diez
,
Yuan Chun Ding
,
Gillian Dite
,
Susan Domchek
,
Thilo Dörk
,
Isabel Dos-Santos-Silva
,
Arnaud Droit
,
Stéphane Dubois
,
Martine Dumont
,
Mercedes Duran
,
Lorraine Durcan
,
Miriam Dwek
,
Diana Eccles
,
Christoph Engel
,
Mikael Eriksson
,
D Gareth Evans
,
Peter Fasching
,
Olivia Fletcher
,
Giuseppe Floris
,
Henrik Flyger
,
Lenka Foretova
,
William Foulkes
,
Eitan Friedman
,
Lin Fritschi
,
Debra Frost
,
Marike Gabrielson
,
Manuela Gago-Dominguez
,
Gaetana Gambino
,
Patricia Ganz
,
Susan Gapstur
,
Judy Garber
,
José García-Sáenz
,
Mia Gaudet
,
Vassilios Georgoulias
,
Graham Giles
,
Gord Glendon
,
Andrew Godwin
,
Mark Goldberg
,
David Goldgar
,
Anna González-Neira
,
Maria Grazia Tibiletti
,
Mark Greene
,
Mervi Grip
,
Jacek Gronwald
,
Anne Grundy
,
Pascal Guénel
(7)
,
Eric Hahnen
,
Christopher Haiman
,
Niclas Håkansson
,
Per Hall
,
Ute Hamann
,
Patricia Harrington
,
Jaana Hartikainen
,
Mikael Hartman
,
Wei He
,
Catherine Healey
,
Bernadette Heemskerk-Gerritsen
,
Jane Heyworth
,
Peter Hillemanns
,
Frans Hogervorst
,
Antoinette Hollestelle
,
Maartje Hooning
,
John Hopper
,
Anthony Howell
,
Guanmengqian Huang
,
Peter Hulick
,
Evgeny Imyanitov
,
Claudine Isaacs
,
Motoki Iwasaki
,
Agnes Jager
,
Milena Jakimovska
,
Anna Jakubowska
,
Paul James
,
Ramunas Janavicius
,
Rachel Jankowitz
,
Esther John
,
Nichola Johnson
,
Michael Jones
,
Arja Jukkola-Vuorinen
,
Audrey Jung
,
Rudolf Kaaks
,
Daehee Kang
,
Pooja Middha Kapoor
,
Beth Karlan
,
Renske Keeman
,
Michael Kerin
,
Elza Khusnutdinova
,
Johanna Kiiski
,
Judy Kirk
,
Cari Kitahara
,
Yon-Dschun Ko
,
Irene Konstantopoulou
,
Veli-Matti Kosma
,
Stella Koutros
,
Katerina Kubelka-Sabit
,
Ava Kwong
,
Kyriacos Kyriacou
,
Yael Laitman
,
Diether Lambrechts
,
Eunjung Lee
,
Goska Leslie
,
Jenny Lester
,
Fabienne Lesueur
,
Annika Lindblom
,
Wing-Yee Lo
,
Jirong Long
,
Artitaya Lophatananon
,
Jennifer Loud
,
Jan Lubiński
,
Robert Macinnis
,
Tom Maishman
,
Enes Makalic
,
Arto Mannermaa
,
Mehdi Manoochehri
,
Siranoush Manoukian
,
Sara Margolin
,
Maria Elena Martinez
,
Keitaro Matsuo
,
Tabea Maurer
,
Dimitrios Mavroudis
,
Rebecca Mayes
,
Lesley Mcguffog
,
Catriona Mclean
,
Noura Mebirouk
,
Alfons Meindl
,
Austin Miller
,
Nicola Miller
,
Marco Montagna
,
Fernando Moreno
,
Kenneth Muir
,
Anna Marie Mulligan
,
Victor Muñoz-Garzon
,
Taru Muranen
,
Steven Narod
,
Rami Nassir
,
Katherine Nathanson
,
Susan Neuhausen
,
Heli Nevanlinna
,
Patrick Neven
,
Finn Nielsen
,
Liene Nikitina-Zake
,
Aaron Norman
,
Kenneth Offit
,
Edith Olah
,
Olufunmilayo Olopade
,
Håkan Olsson
,
Nick Orr
,
Ana Osorio
,
V Shane Pankratz
,
Janos Papp
,
Sue Park
,
Tjoung-Won Park-Simon
,
Michael Parsons
,
James Paul
,
Inge Sokilde Pedersen
,
Bernard Peissel
,
Beth Peshkin
,
Paolo Peterlongo
,
Julian Peto
,
Dijana Plaseska-Karanfilska
,
Karolina Prajzendanc
,
Ross Prentice
,
Nadege Presneau
,
Darya Prokofyeva
,
Miquel Angel Pujana
,
Katri Pylkäs
,
Paolo Radice
,
Susan Ramus
,
Johanna Rantala
,
Rohini Rau-Murthy
,
Gad Rennert
,
Harvey Risch
,
Mark Robson
,
Atocha Romero
,
Maria Rossing
,
Emmanouil Saloustros
,
Estela Sánchez-Herrero
,
Dale Sandler
,
Marta Santamariña
,
Christobel Saunders
,
Elinor Sawyer
,
Maren Scheuner
,
Daniel Schmidt
,
Rita Schmutzler
,
Andreas Schneeweiss
,
Minouk Schoemaker
,
Ben Schöttker
,
Peter Schürmann
,
Christopher Scott
,
Rodney Scott
,
Leigha Senter
,
Caroline Seynaeve
,
Mitul Shah
,
Priyanka Sharma
,
Chen-Yang Shen
,
Xiao-Ou Shu
,
Christian Singer
,
Thomas Slavin
,
Snezhana Smichkoska
,
Melissa Southey
,
John Spinelli
,
Amanda Spurdle
,
Jennifer Stone
,
Dominique Stoppa-Lyonnet
,
Christian Sutter
,
Anthony Swerdlow
,
Rulla Tamimi
,
Yen Yen Tan
,
William Tapper
,
Jack Taylor
,
Manuel Teixeira
,
Maria Tengström
,
Soo Hwang Teo
,
Mary Beth Terry
,
Alex Teulé
,
Mads Thomassen
,
Darcy Thull
,
Marc Tischkowitz
,
Amanda Toland
,
Rob Tollenaar
,
Ian Tomlinson
,
Diana Torres
,
Gabriela Torres-Mejía
,
Melissa Troester
,
Thérèse Truong
(7)
,
Nadine Tung
,
Maria Tzardi
,
Hans-Ulrich Ulmer
,
Celine Vachon
,
Christi van Asperen
,
Lizet van Der Kolk
,
Elizabeth van Rensburg
,
Ana Vega
,
Alessandra Viel
,
Joseph Vijai
,
Maartje Vogel
,
Qin Wang
,
Barbara Wappenschmidt
,
Clarice Weinberg
,
Jeffrey Weitzel
,
Camilla Wendt
,
Hans Wildiers
,
Robert Winqvist
,
Alicja Wolk
,
Anna Wu
,
Drakoulis Yannoukakos
,
Yan Zhang
,
Wei Zheng
,
David Hunter
,
Paul Pharoah
,
Jenny Chang-Claude
,
Montserrat García-Closas
,
Marjanka Schmidt
,
Roger Milne
,
Vessela Kristensen
,
Juliet French
,
Stacey Edwards
,
Antonis Antoniou
,
Georgia Chenevix-Trench
,
Jacques Simard
,
Douglas Easton
,
Peter Kraft
,
Alison Dunning
,
M. Rosario Alonso
,
J. Margriet Collée
,
D. Gareth Evans
,
V. Shane Pankratz
1
Département de Biologie Computationnelle - Department of Computational Biology
2 QIMR Berghofer Medical Research Institute
3 CAM - University of Cambridge [UK]
4 NSCAD
5 UCY - University of Cyprus [Nicosia]
6 Harvard T.H. Chan School of Public Health
7 CESP - Centre de recherche en épidémiologie et santé des populations
2 QIMR Berghofer Medical Research Institute
3 CAM - University of Cambridge [UK]
4 NSCAD
5 UCY - University of Cyprus [Nicosia]
6 Harvard T.H. Chan School of Public Health
7 CESP - Centre de recherche en épidémiologie et santé des populations
Laura Fachal
- Function : Author
Hugues Aschard
- Function : Author
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Daniel Barnes
- Function : Author
- PersonId : 768315
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Siddhartha Kar
- Function : Author
Karen Pooley
- Function : Author
Joe Dennis
- Function : Author
- PersonId : 791341
- ORCID : 0000-0003-4591-1214
Penny Soucy
- Function : Author
Audrey Lemaçon
- Function : Author
Michael Lush
- Function : Author
Jonathan Tyrer
- Function : Author
- PersonId : 791340
- ORCID : 0000-0003-3724-4757
Maya Ghoussaini
- Function : Author
Mahdi Moradi Marjaneh
- Function : Author
Xia Jiang
- Function : Author
Simona Agata
- Function : Author
Kristiina Aittomäki
- Function : Author
M Rosario Alonso
- Function : Author
Irene Andrulis
- Function : Author
- PersonId : 806569
- ORCID : 0000-0002-4226-6435
Hoda Anton-Culver
- Function : Author
Natalia Antonenkova
- Function : Author
Adalgeir Arason
- Function : Author
Volker Arndt
- Function : Author
- PersonId : 764293
- ORCID : 0000-0001-9320-8684
Kristan Aronson
- Function : Author
Banu Arun
- Function : Author
Bernd Auber
- Function : Author
Paul Auer
- Function : Author
Jacopo Azzollini
- Function : Author
- PersonId : 773228
- ORCID : 0000-0002-9364-9778
Judith Balmaña
- Function : Author
Rosa Barkardottir
- Function : Author
Daniel Barrowdale
- Function : Author
- PersonId : 768869
- ORCID : 0000-0003-1661-3939
Alicia Beeghly-Fadiel
- Function : Author
Javier Benitez
- Function : Author
Marina Bermisheva
- Function : Author
Katarzyna Białkowska
- Function : Author
Amie Blanco
- Function : Author
Carl Blomqvist
- Function : Author
William Blot
- Function : Author
Natalia Bogdanova
- Function : Author
Stig Bojesen
- Function : Author
- PersonId : 797795
- ORCID : 0000-0002-4061-4133
Manjeet Bolla
- Function : Author
Bernardo Bonanni
- Function : Author
- PersonId : 762720
- ORCID : 0000-0003-3589-2128
Ake Borg
- Function : Author
Kristin Bosse
- Function : Author
Hiltrud Brauch
- Function : Author
- PersonId : 762700
- ORCID : 0000-0001-7531-2736
Hermann Brenner
- Function : Author
Ignacio Briceno
- Function : Author
Ian Brock
- Function : Author
Angela Brooks-Wilson
- Function : Author
Thomas Brüning
- Function : Author
Barbara Burwinkel
- Function : Author
Saundra Buys
- Function : Author
Qiuyin Cai
- Function : Author
Trinidad Caldés
- Function : Author
- PersonId : 762555
- ORCID : 0000-0002-1038-5392
Maria Caligo
- Function : Author
Nicola Camp
- Function : Author
Ian Campbell
- Function : Author
Federico Canzian
- Function : Author
- PersonId : 763126
- ORCID : 0000-0002-4261-4583
- IdRef : 18925243X
Jason Carroll
- Function : Author
Brian Carter
- Function : Author
Jose Castelao
- Function : Author
Jocelyne Chiquette
- Function : Author
Hans Christiansen
- Function : Author
Wendy Chung
- Function : Author
- PersonId : 786377
- ORCID : 0000-0003-3438-5685
Kathleen Claes
- Function : Author
- PersonId : 791343
- ORCID : 0000-0003-0841-7372
Christine Clarke
- Function : Author
J Margriet Collée
- Function : Author
Sten Cornelissen
- Function : Author
Fergus Couch
- Function : Author
Angela Cox
- Function : Author
Simon Cross
- Function : Author
Cezary Cybulski
- Function : Author
Kamila Czene
- Function : Author
Mary Daly
- Function : Author
Miguel de La Hoya
- Function : Author
Peter Devilee
- Function : Author
- PersonId : 763377
- ORCID : 0000-0002-8023-2009
- IdRef : 074428608
Orland Diez
- Function : Author
Yuan Chun Ding
- Function : Author
Gillian Dite
- Function : Author
Susan Domchek
- Function : Author
Thilo Dörk
- Function : Author
- PersonId : 763398
- ORCID : 0000-0002-9458-0282
Isabel Dos-Santos-Silva
- Function : Author
Arnaud Droit
- Function : Author
- PersonId : 760784
- ORCID : 0000-0001-7922-790X
- IdRef : 194612295
Stéphane Dubois
- Function : Author
Martine Dumont
- Function : Author
Mercedes Duran
- Function : Author
Lorraine Durcan
- Function : Author
Miriam Dwek
- Function : Author
- PersonId : 785990
- ORCID : 0000-0001-7184-2932
Diana Eccles
- Function : Author
Christoph Engel
- Function : Author
Mikael Eriksson
- Function : Author
D Gareth Evans
- Function : Author
Peter Fasching
- Function : Author
Olivia Fletcher
- Function : Author
Giuseppe Floris
- Function : Author
Henrik Flyger
- Function : Author
Lenka Foretova
- Function : Author
William Foulkes
- Function : Author
- PersonId : 764695
- ORCID : 0000-0001-7427-4651
- IdRef : 148783422
Eitan Friedman
- Function : Author
Lin Fritschi
- Function : Author
- PersonId : 778753
- ORCID : 0000-0002-7692-3560
Debra Frost
- Function : Author
Marike Gabrielson
- Function : Author
Manuela Gago-Dominguez
- Function : Author
Gaetana Gambino
- Function : Author
Patricia Ganz
- Function : Author
Susan Gapstur
- Function : Author
Judy Garber
- Function : Author
José García-Sáenz
- Function : Author
- PersonId : 799733
- ORCID : 0000-0001-6880-0301
Mia Gaudet
- Function : Author
Vassilios Georgoulias
- Function : Author
Graham Giles
- Function : Author
- PersonId : 780114
- ORCID : 0000-0003-4946-9099
Gord Glendon
- Function : Author
Andrew Godwin
- Function : Author
Mark Goldberg
- Function : Author
David Goldgar
- Function : Author
Anna González-Neira
- Function : Author
Maria Grazia Tibiletti
- Function : Author
Mark Greene
- Function : Author
- PersonId : 798122
- ORCID : 0000-0003-1852-9239
Mervi Grip
- Function : Author
Jacek Gronwald
- Function : Author
Anne Grundy
- Function : Author
Pascal Guénel
- Function : Author
- PersonId : 757378
- ORCID : 0000-0002-8359-518X
- IdRef : 032371578
Eric Hahnen
- Function : Author
Christopher Haiman
- Function : Author
Niclas Håkansson
- Function : Author
- PersonId : 791344
- ORCID : 0000-0001-7673-5554
Per Hall
- Function : Author
Ute Hamann
- Function : Author
Patricia Harrington
- Function : Author
Jaana Hartikainen
- Function : Author
Mikael Hartman
- Function : Author
Wei He
- Function : Author
- PersonId : 768161
- ORCID : 0000-0003-0161-3274
Catherine Healey
- Function : Author
Bernadette Heemskerk-Gerritsen
- Function : Author
Jane Heyworth
- Function : Author
Peter Hillemanns
- Function : Author
Frans Hogervorst
- Function : Author
Antoinette Hollestelle
- Function : Author
- PersonId : 762554
- ORCID : 0000-0003-1166-1966
Maartje Hooning
- Function : Author
John Hopper
- Function : Author
Anthony Howell
- Function : Author
Guanmengqian Huang
- Function : Author
Peter Hulick
- Function : Author
- PersonId : 791345
- ORCID : 0000-0001-8397-4078
Evgeny Imyanitov
- Function : Author
Claudine Isaacs
- Function : Author
Motoki Iwasaki
- Function : Author
Agnes Jager
- Function : Author
Milena Jakimovska
- Function : Author
Anna Jakubowska
- Function : Author
- PersonId : 762556
- ORCID : 0000-0002-5650-0501
Paul James
- Function : Author
- PersonId : 791346
- ORCID : 0000-0002-4361-4657
Ramunas Janavicius
- Function : Author
Rachel Jankowitz
- Function : Author
Esther John
- Function : Author
Nichola Johnson
- Function : Author
Michael Jones
- Function : Author
- PersonId : 772144
- ORCID : 0000-0001-7479-3451
Arja Jukkola-Vuorinen
- Function : Author
Audrey Jung
- Function : Author
Rudolf Kaaks
- Function : Author
Daehee Kang
- Function : Author
Pooja Middha Kapoor
- Function : Author
- PersonId : 807945
- ORCID : 0000-0001-5503-8215
Beth Karlan
- Function : Author
Renske Keeman
- Function : Author
- PersonId : 807946
- ORCID : 0000-0002-5452-9933
Michael Kerin
- Function : Author
Elza Khusnutdinova
- Function : Author
Johanna Kiiski
- Function : Author
Judy Kirk
- Function : Author
Cari Kitahara
- Function : Author
Yon-Dschun Ko
- Function : Author
Irene Konstantopoulou
- Function : Author
Veli-Matti Kosma
- Function : Author
Stella Koutros
- Function : Author
Katerina Kubelka-Sabit
- Function : Author
Ava Kwong
- Function : Author
Kyriacos Kyriacou
- Function : Author
Yael Laitman
- Function : Author
Diether Lambrechts
- Function : Author
- PersonId : 772319
- ORCID : 0000-0002-3429-302X
Eunjung Lee
- Function : Author
Goska Leslie
- Function : Author
- PersonId : 791342
- ORCID : 0000-0001-5756-6222
Jenny Lester
- Function : Author
Fabienne Lesueur
- Function : Author
- PersonId : 766610
- ORCID : 0000-0001-7404-4549
- IdRef : 165329939
Annika Lindblom
- Function : Author
Wing-Yee Lo
- Function : Author
Jirong Long
- Function : Author
Artitaya Lophatananon
- Function : Author
Jennifer Loud
- Function : Author
Jan Lubiński
- Function : Author
Robert Macinnis
- Function : Author
Tom Maishman
- Function : Author
Enes Makalic
- Function : Author
Arto Mannermaa
- Function : Author
Mehdi Manoochehri
- Function : Author
Siranoush Manoukian
- Function : Author
Sara Margolin
- Function : Author
Maria Elena Martinez
- Function : Author
Keitaro Matsuo
- Function : Author
Tabea Maurer
- Function : Author
Dimitrios Mavroudis
- Function : Author
Rebecca Mayes
- Function : Author
Lesley Mcguffog
- Function : Author
Catriona Mclean
- Function : Author
Noura Mebirouk
- Function : Author
Alfons Meindl
- Function : Author
Austin Miller
- Function : Author
- PersonId : 798123
- ORCID : 0000-0001-9739-8462
Nicola Miller
- Function : Author
Marco Montagna
- Function : Author
Fernando Moreno
- Function : Author
Kenneth Muir
- Function : Author
Anna Marie Mulligan
- Function : Author
Victor Muñoz-Garzon
- Function : Author
Taru Muranen
- Function : Author
Steven Narod
- Function : Author
Rami Nassir
- Function : Author
Katherine Nathanson
- Function : Author
- PersonId : 806570
- ORCID : 0000-0002-6740-0901
Susan Neuhausen
- Function : Author
Heli Nevanlinna
- Function : Author
- PersonId : 762552
- ORCID : 0000-0002-0916-2976
Patrick Neven
- Function : Author
Finn Nielsen
- Function : Author
Liene Nikitina-Zake
- Function : Author
Aaron Norman
- Function : Author
Kenneth Offit
- Function : Author
Edith Olah
- Function : Author
Olufunmilayo Olopade
- Function : Author
- PersonId : 806571
- ORCID : 0000-0002-9936-1599
Håkan Olsson
- Function : Author
Nick Orr
- Function : Author
Ana Osorio
- Function : Author
V Shane Pankratz
- Function : Author
Janos Papp
- Function : Author
Sue Park
- Function : Author
- PersonId : 806572
- ORCID : 0000-0001-5002-9707
Tjoung-Won Park-Simon
- Function : Author
Michael Parsons
- Function : Author
- PersonId : 797799
- ORCID : 0000-0003-3242-8477
James Paul
- Function : Author
Inge Sokilde Pedersen
- Function : Author
- PersonId : 806573
- ORCID : 0000-0002-9902-8040
Bernard Peissel
- Function : Author
Beth Peshkin
- Function : Author
- PersonId : 807947
- ORCID : 0000-0002-2997-4701
Paolo Peterlongo
- Function : Author
- PersonId : 762723
- ORCID : 0000-0001-6951-6855
Julian Peto
- Function : Author
- PersonId : 807948
- ORCID : 0000-0002-1685-8912
Dijana Plaseska-Karanfilska
- Function : Author
Karolina Prajzendanc
- Function : Author
Ross Prentice
- Function : Author
Nadege Presneau
- Function : Author
Darya Prokofyeva
- Function : Author
Miquel Angel Pujana
- Function : Author
Katri Pylkäs
- Function : Author
Paolo Radice
- Function : Author
- PersonId : 763238
- ORCID : 0000-0001-6298-4111
Susan Ramus
- Function : Author
Johanna Rantala
- Function : Author
Rohini Rau-Murthy
- Function : Author
Gad Rennert
- Function : Author
- PersonId : 766345
- ORCID : 0000-0002-8512-068X
Harvey Risch
- Function : Author
Mark Robson
- Function : Author
- PersonId : 795764
- ORCID : 0000-0002-3109-1692
Atocha Romero
- Function : Author
- PersonId : 799736
- ORCID : 0000-0002-1634-7397
Maria Rossing
- Function : Author
Emmanouil Saloustros
- Function : Author
- PersonId : 793198
- ORCID : 0000-0002-0485-0120
Estela Sánchez-Herrero
- Function : Author
Dale Sandler
- Function : Author
- PersonId : 807949
- ORCID : 0000-0002-6776-0018
Marta Santamariña
- Function : Author
Christobel Saunders
- Function : Author
Elinor Sawyer
- Function : Author
Maren Scheuner
- Function : Author
Daniel Schmidt
- Function : Author
Rita Schmutzler
- Function : Author
Andreas Schneeweiss
- Function : Author
Minouk Schoemaker
- Function : Author
Ben Schöttker
- Function : Author
Peter Schürmann
- Function : Author
Christopher Scott
- Function : Author
- PersonId : 791898
- ORCID : 0000-0003-1340-0647
Rodney Scott
- Function : Author
Leigha Senter
- Function : Author
Caroline Seynaeve
- Function : Author
Mitul Shah
- Function : Author
Priyanka Sharma
- Function : Author
- PersonId : 757755
- ORCID : 0000-0003-3890-3590
Chen-Yang Shen
- Function : Author
Xiao-Ou Shu
- Function : Author
Christian Singer
- Function : Author
Thomas Slavin
- Function : Author
Snezhana Smichkoska
- Function : Author
Melissa Southey
- Function : Author
John Spinelli
- Function : Author
Amanda Spurdle
- Function : Author
Jennifer Stone
- Function : Author
- PersonId : 801506
- ORCID : 0000-0001-5077-0124
Dominique Stoppa-Lyonnet
- Function : Author
- PersonId : 770393
- ORCID : 0000-0002-5438-8309
Christian Sutter
- Function : Author
Anthony Swerdlow
- Function : Author
Rulla Tamimi
- Function : Author
Yen Yen Tan
- Function : Author
William Tapper
- Function : Author
Jack Taylor
- Function : Author
Manuel Teixeira
- Function : Author
Maria Tengström
- Function : Author
Soo Hwang Teo
- Function : Author
Mary Beth Terry
- Function : Author
Alex Teulé
- Function : Author
Mads Thomassen
- Function : Author
Darcy Thull
- Function : Author
Marc Tischkowitz
- Function : Author
Amanda Toland
- Function : Author
- PersonId : 806574
- ORCID : 0000-0002-0271-1792
Rob Tollenaar
- Function : Author
Ian Tomlinson
- Function : Author
Diana Torres
- Function : Author
Gabriela Torres-Mejía
- Function : Author
Melissa Troester
- Function : Author
Thérèse Truong
- Function : Author
- PersonId : 757819
- ORCID : 0000-0002-2943-6786
- IdRef : 122218639
Nadine Tung
- Function : Author
Maria Tzardi
- Function : Author
Hans-Ulrich Ulmer
- Function : Author
Celine Vachon
- Function : Author
- PersonId : 791497
- ORCID : 0000-0002-1962-9322
Christi van Asperen
- Function : Author
Lizet van Der Kolk
- Function : Author
Elizabeth van Rensburg
- Function : Author
Ana Vega
- Function : Author
- PersonId : 763402
- ORCID : 0000-0002-7416-5137
Alessandra Viel
- Function : Author
Joseph Vijai
- Function : Author
- PersonId : 768762
- ORCID : 0000-0002-7933-151X
Maartje Vogel
- Function : Author
Qin Wang
- Function : Author
Barbara Wappenschmidt
- Function : Author
Clarice Weinberg
- Function : Author
Jeffrey Weitzel
- Function : Author
- PersonId : 806575
- ORCID : 0000-0001-6714-092X
Camilla Wendt
- Function : Author
Hans Wildiers
- Function : Author
Robert Winqvist
- Function : Author
Alicja Wolk
- Function : Author
- PersonId : 784020
- ORCID : 0000-0001-7387-6845
Anna Wu
- Function : Author
Drakoulis Yannoukakos
- Function : Author
- PersonId : 764694
- ORCID : 0000-0001-7509-3510
- IdRef : 111519055
Yan Zhang
- Function : Author
- PersonId : 756469
- ORCID : 0000-0003-0744-6198
Wei Zheng
- Function : Author
- PersonId : 756070
- ORCID : 0000-0003-1226-070X
David Hunter
- Function : Author
- PersonId : 767921
- ORCID : 0000-0002-7625-2461
Paul Pharoah
- Function : Author
- PersonId : 803445
- ORCID : 0000-0001-8494-732X
Jenny Chang-Claude
- Function : Author
Montserrat García-Closas
- Function : Author
- PersonId : 807950
- ORCID : 0000-0003-1033-2650
Marjanka Schmidt
- Function : Author
- PersonId : 795763
- ORCID : 0000-0002-2228-429X
Roger Milne
- Function : Author
- PersonId : 791347
- ORCID : 0000-0001-5764-7268
Vessela Kristensen
- Function : Author
Juliet French
- Function : Author
Stacey Edwards
- Function : Author
Antonis Antoniou
- Function : Author
Georgia Chenevix-Trench
- Function : Author
Jacques Simard
- Function : Author
- PersonId : 757778
- ORCID : 0000-0001-6906-3390
Douglas Easton
- Function : Author
- PersonId : 782295
- ORCID : 0000-0003-2444-3247
Peter Kraft
- Function : Author
- PersonId : 765918
- ORCID : 0000-0002-4472-8103
Alison Dunning
- Function : Author
- PersonId : 797107
- ORCID : 0000-0001-6651-7166
M. Rosario Alonso
- Function : Author
J. Margriet Collée
- Function : Author
- PersonId : 763403
- ORCID : 0000-0002-9272-9346
D. Gareth Evans
- Function : Author
V. Shane Pankratz
- Function : Author
Abstract
Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association analysis with in silico genomic feature annotations. We defined 205 independent risk-associated signals with the set of credible causal variants in each one. In parallel, we used a Bayesian approach (PAINTOR) that combines genetic association, linkage disequilibrium and enriched genomic features to determine variants with high posterior probabilities of being causal. Potentially causal variants were significantly over-represented in active gene regulatory regions and transcription factor binding sites. We applied our INQUSIT pipeline for prioritizing genes as targets of those potentially causal variants, using gene expression (expression quantitative trait loci), chromatin interaction and functional annotations. Known cancer drivers, transcription factors and genes in the developmental, apoptosis, immune system and DNA integrity checkpoint gene ontology pathways were over-represented among the highest-confidence target genes.