Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

Chenjie Zeng,Xingyi Guo,Jirong Long,Karoline B. Kuchenbaecker,Arnaud Droit,Kyriaki Michailidou,Maya Ghoussaini,Siddhartha Kar,Adam N. Freeman,John L. Hopper,Roger L. Milne,Manjeet K. Bolla,Qin Wang,Joe Dennis,Simona Agata,Shahana Ahmed,Kristiina Aittomäki,Irene L. Andrulis,Hoda Anton-Culver,Natalia Antonenkova,Aðalgeir Arason,Volker Arndt,Banu K Arun,Brita Arver,Francois Bacot,Daniel Barrowdale,Caroline Baynes,Alicia Beeghly–Fadiel,Javier Benitez,Marina Bermisheva,Carl Blomqvist,William J. Blot,Natalia V. Bogdanova,Stig E. Bojesen,Bernardo Bonanni,Anne Lise Børresen-Dale,Judith S. Brand,Hiltrud Brauch,Paul Brennan,Hermann Brenner,Annegien Broeks,Thomas Brüning,Barbara Burwinkel,Saundra S. Buys,Qiuyin Cai,Trinidad Caldés,Ian G. Campbell,Jane Carpenter,Jenny Chang-Claude,Ji-Yeob Choi,Kathleen Claes,Christine L. Clarke,Angela Cox,Simon S. Cross,Kamila Czene,Mary B. Daly,Miguel de la Hoya,Kim De Leeneer,Peter Devilee,Orland Diez,Susan M. Domchek,Michele M. Doody,Cecilia M. Dorfling,Thilo Dörk,Isabel dos-Santos-Silva,Martine Dumont,Miriam Dwek,Bernd Dworniczak,Kathleen M Egan,Ursula Eilber,Zakaria Einbeigi,Bent Ejlertsen,Steve Ellis,Debra Frost,Fiona Lalloo,Peter A. Fasching,Jonine D. Figueroa,Henrik Flyger,Michael Friedlander,Eitan Friedman,Gaetana Gambino,Yu-Tang Gao,Judy Garber,Montserrat Garcia-Closas,Andrea Gehrig,Francesca Damiola,Fabienne Lesueur,Sylvie Mazoyer,Dominique Stoppa-Lyonnet,Graham G. Giles,Andrew K. Godwin,David E. Goldgar,Anna González-Neira,Mark H. Greene,Pascal Guénel,Lothar Haeberle,Christopher A. Haiman,Emily Hallberg,Ute Hamann,Thomas Hansen,Steven N. Hart,Jaana M. Hartikainen,Mikael Hartman,Norhashimah Hassan,Sue Healey,Frans B. L. Hogervorst,Senno Verhoef,Carolyn B. Hendricks,Peter Hillemanns,Antoinette Hollestelle,Peter J. Hulick,David J. Hunter,Evgeny N. Imyanitov,Claudine Isaacs,Hidemi Ito,Anna Jakubowska,Ramunas Janavicius,Katarzyna Jaworska-Bieniek,Uffe Birk Jensen,Esther M. John,Charles Joly-Beauparlant,Michael E. Jones,Maria Kabisch,Daehee Kang,Beth Y. Karlan,Saila Kauppila,Michael J. Kerin,Sofia Khan,Elza Khusnutdinova,Julia A. Knight,Irene Konstantopoulou,Peter Kraft,Ava Kwong,Yael Laitman,Diether Lambrechts,Conxi Lázaro,Loic Le Marchand,Chuen Neng Lee,Min-Hyuk Lee,Jenny Lester,Jingmei Li,Annelie Liljegren,Annika Lindblom,Artitaya Lophatananon,Jan Lubinski,Phuong L. Mai,Arto Mannermaa,Siranoush Manoukian,Sara Margolin,Frederik Marmé,Keitaro Matsuo,Lesley McGuffog,Alfons Meindl,Florence Menegaux,Marco Montagna,Kenneth W. Muir,Anna Marie Mulligan,Katherine L. Nathanson,Susan L. Neuhausen,Heli Nevanlinna,Polly A. Newcomb,Silje Nord,Robert L. Nussbaum,Kenneth Offit,Edith Olah,Olufunmilayo I. Olopade,Curtis Olswold,Ana Osório,Laura Papi,Tjoung-Won Park-Simon,Ylva Paulsson-Karlsson,Stéphanie Peeters,Bernard Peissel,Paolo Peterlongo,Julian Peto,Georg Pfeiler,Catherine M. Phelan,Nadège Presneau,Paolo Radice,Nazneen Rahman,Susan J. Ramus,Muhammad U. Rashid,Gad Rennert,Kerstin Rhiem,Anja Rudolph,Ritu Salani,Suleeporn Sangrajrang,Elinor J. Sawyer,Marjanka K. Schmidt,Rita K. Schmutzler,Minouk J. Schoemaker,Peter Schürmann,Caroline Seynaeve,Chen-Yang Shen,Martha J. Shrubsole,Xiao-Ou Shu,Alice J. Sigurdson,Christian F. Singer,Susan L Slager,Penny Soucy,Melissa C. Southey,Doris Steinemann,Anthony J. Swerdlow,Csilla I. Szabo,Sandrine Tchatchou,Manuel R. Teixeira,Soo H. Teo,Mary Beth Terry,Daniel C. Tessier,Àlex Teule,Mads Thomassen,Laima Tihomirova,Marc Tischkowitz,Amanda E. Toland,Nadine Tung,Clare Turnbull,Ans M. W. van den Ouweland,Elizabeth J. van Rensburg,David ven den Berg,Joseph Vijai,Shan Wang-Gohrke,Jeffrey N. Weitzel,Alice S. Whittemore,Robert Winqvist,Tien Yin Wong,Anna H. Wu,Drakoulis Yannoukakos,Jyh Cherng Yu,Paul D.P. Pharoah,Per Hall,Georgia Chenevix-Trench,Alison M. Dunning,Jacques Simard,Fergus J. Couch,Antonis C. Antoniou,Douglas F. Easton,Wei Zheng

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

2016

Chenjie Zeng
Xingyi Guo
Jirong Long
Karoline B. Kuchenbaecker
Arnaud Droit
Kyriaki Michailidou
Maya Ghoussaini
Siddhartha Kar
Adam N. Freeman
John L. Hopper
Roger L. Milne
Manjeet K. Bolla
Qin Wang
Joe Dennis
Simona Agata
Shahana Ahmed
Kristiina Aittomäki
Irene L. Andrulis
Hoda Anton-Culver
Natalia Antonenkova
Aðalgeir Arason
Volker Arndt
Banu K Arun
Brita Arver
Francois Bacot
Daniel Barrowdale
Caroline Baynes
Alicia Beeghly–Fadiel
Javier Benitez
Marina Bermisheva
Carl Blomqvist
William J. Blot
Natalia V. Bogdanova
Stig E. Bojesen
Bernardo Bonanni
Anne Lise Børresen-Dale
Judith S. Brand
Hiltrud Brauch
Paul Brennan
Hermann Brenner
Annegien Broeks
Thomas Brüning
Barbara Burwinkel
Saundra S. Buys
Qiuyin Cai
Trinidad Caldés
Ian G. Campbell
Jane Carpenter
Jenny Chang-Claude
Ji-Yeob Choi
Kathleen Claes
Christine L. Clarke
Angela Cox
Simon S. Cross
Kamila Czene
Mary B. Daly
Miguel de la Hoya
Kim De Leeneer
Peter Devilee
Orland Diez
Susan M. Domchek
Michele M. Doody
Cecilia M. Dorfling
Thilo Dörk
Isabel dos-Santos-Silva
Martine Dumont
Miriam Dwek
Bernd Dworniczak
Kathleen M Egan
Ursula Eilber
Zakaria Einbeigi
Bent Ejlertsen
Steve Ellis
Debra Frost
Fiona Lalloo
Peter A. Fasching
Jonine D. Figueroa
Henrik Flyger
Michael Friedlander
Eitan Friedman
Gaetana Gambino
Yu-Tang Gao
Judy Garber
Montserrat Garcia-Closas
Andrea Gehrig
Francesca Damiola
Fabienne Lesueur
Sylvie Mazoyer
Dominique Stoppa-Lyonnet
Graham G. Giles
Andrew K. Godwin
David E. Goldgar
Anna González-Neira
Mark H. Greene
Pascal Guénel
Lothar Haeberle
Christopher A. Haiman
Emily Hallberg
Ute Hamann
Thomas Hansen
Steven N. Hart
Jaana M. Hartikainen
Mikael Hartman
Norhashimah Hassan
Sue Healey
Frans B. L. Hogervorst
Senno Verhoef
Carolyn B. Hendricks
Peter Hillemanns
Antoinette Hollestelle
Peter J. Hulick
David J. Hunter
Evgeny N. Imyanitov
Claudine Isaacs
Hidemi Ito
Anna Jakubowska
Ramunas Janavicius
Katarzyna Jaworska-Bieniek
Uffe Birk Jensen
Esther M. John
Charles Joly-Beauparlant
Michael E. Jones
Maria Kabisch
Daehee Kang
Beth Y. Karlan
Saila Kauppila
Michael J. Kerin
Sofia Khan
Elza Khusnutdinova
Julia A. Knight
Irene Konstantopoulou
Peter Kraft
Ava Kwong
Yael Laitman
Diether Lambrechts
Conxi Lázaro
Loic Le Marchand
Chuen Neng Lee
Min-Hyuk Lee
Jenny Lester
Jingmei Li
Annelie Liljegren
Annika Lindblom
Artitaya Lophatananon
Jan Lubinski
Phuong L. Mai
Arto Mannermaa
Siranoush Manoukian
Sara Margolin
Frederik Marmé
Keitaro Matsuo
Lesley McGuffog
Alfons Meindl
Florence Menegaux
Marco Montagna
Kenneth W. Muir
Anna Marie Mulligan
Katherine L. Nathanson
Susan L. Neuhausen
Heli Nevanlinna
Polly A. Newcomb
Silje Nord
Robert L. Nussbaum
Kenneth Offit
Edith Olah
Olufunmilayo I. Olopade
Curtis Olswold
Ana Osório
Laura Papi
Tjoung-Won Park-Simon
Ylva Paulsson-Karlsson
Stéphanie Peeters
Bernard Peissel
Paolo Peterlongo
Julian Peto
Georg Pfeiler
Catherine M. Phelan
Nadège Presneau
Paolo Radice
Nazneen Rahman
Susan J. Ramus
Muhammad U. Rashid
Gad Rennert
Kerstin Rhiem
Anja Rudolph
Ritu Salani
Suleeporn Sangrajrang
Elinor J. Sawyer
Marjanka K. Schmidt
Rita K. Schmutzler
Minouk J. Schoemaker
Peter Schürmann
Caroline Seynaeve
Chen-Yang Shen
Martha J. Shrubsole
Xiao-Ou Shu
Alice J. Sigurdson
Christian F. Singer
Susan L Slager
Penny Soucy
Melissa C. Southey
Doris Steinemann
Anthony J. Swerdlow
Csilla I. Szabo
Sandrine Tchatchou
Manuel R. Teixeira
Soo H. Teo
Mary Beth Terry
Daniel C. Tessier
Àlex Teule
Mads Thomassen
Laima Tihomirova
Marc Tischkowitz
Amanda E. Toland
Nadine Tung
Clare Turnbull
Ans M. W. van den Ouweland
Elizabeth J. van Rensburg
David ven den Berg
Joseph Vijai
Shan Wang-Gohrke
Jeffrey N. Weitzel
Alice S. Whittemore
Robert Winqvist
Tien Yin Wong
Anna H. Wu
Drakoulis Yannoukakos
Jyh Cherng Yu
Paul D.P. Pharoah
Per Hall
Georgia Chenevix-Trench
Alison M. Dunning
Jacques Simard
Fergus J. Couch
Antonis C. Antoniou
Douglas F. Easton
Wei Zheng

Background Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk.

Keywords:

Breast cancer
Genetic association
Locus (genetics)
Genome-wide association study
Genotype
Single-nucleotide polymorphism
Quantitative trait locus
Genetics
Pathology
SNP
Medicine

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