Nature Communications (Apr 2019)

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

  • Manuel A. Ferreira,
  • Eric R. Gamazon,
  • Fares Al-Ejeh,
  • Kristiina Aittomäki,
  • Irene L. Andrulis,
  • Hoda Anton-Culver,
  • Adalgeir Arason,
  • Volker Arndt,
  • Kristan J. Aronson,
  • Banu K. Arun,
  • Ella Asseryanis,
  • Jacopo Azzollini,
  • Judith Balmaña,
  • Daniel R. Barnes,
  • Daniel Barrowdale,
  • Matthias W. Beckmann,
  • Sabine Behrens,
  • Javier Benitez,
  • Marina Bermisheva,
  • Katarzyna Białkowska,
  • Carl Blomqvist,
  • Natalia V. Bogdanova,
  • Stig E. Bojesen,
  • Manjeet K. Bolla,
  • Ake Borg,
  • Hiltrud Brauch,
  • Hermann Brenner,
  • Annegien Broeks,
  • Barbara Burwinkel,
  • Trinidad Caldés,
  • Maria A. Caligo,
  • Daniele Campa,
  • Ian Campbell,
  • Federico Canzian,
  • Jonathan Carter,
  • Brian D. Carter,
  • Jose E. Castelao,
  • Jenny Chang-Claude,
  • Stephen J. Chanock,
  • Hans Christiansen,
  • Wendy K. Chung,
  • Kathleen B. M. Claes,
  • Christine L. Clarke,
  • EMBRACE Collaborators,
  • GC-HBOC Study Collaborators,
  • GEMO Study Collaborators,
  • Fergus J. Couch,
  • Angela Cox,
  • Simon S. Cross,
  • Kamila Czene,
  • Mary B. Daly,
  • Miguel de la Hoya,
  • Joe Dennis,
  • Peter Devilee,
  • Orland Diez,
  • Thilo Dörk,
  • Alison M. Dunning,
  • Miriam Dwek,
  • Diana M. Eccles,
  • Bent Ejlertsen,
  • Carolina Ellberg,
  • Christoph Engel,
  • Mikael Eriksson,
  • Peter A. Fasching,
  • Olivia Fletcher,
  • Henrik Flyger,
  • Eitan Friedman,
  • Debra Frost,
  • Marike Gabrielson,
  • Manuela Gago-Dominguez,
  • Patricia A. Ganz,
  • Susan M. Gapstur,
  • Judy Garber,
  • Montserrat García-Closas,
  • José A. García-Sáenz,
  • Mia M. Gaudet,
  • Graham G. Giles,
  • Gord Glendon,
  • Andrew K. Godwin,
  • Mark S. Goldberg,
  • David E. Goldgar,
  • Anna González-Neira,
  • Mark H. Greene,
  • Jacek Gronwald,
  • Pascal Guénel,
  • Christopher A. Haiman,
  • Per Hall,
  • Ute Hamann,
  • Wei He,
  • Jane Heyworth,
  • Frans B. L. Hogervorst,
  • Antoinette Hollestelle,
  • Robert N. Hoover,
  • John L. Hopper,
  • Peter J. Hulick,
  • Keith Humphreys,
  • Evgeny N. Imyanitov,
  • ABCTB Investigators,
  • HEBON Investigators,
  • BCFR Investigators,
  • Claudine Isaacs,
  • Milena Jakimovska,
  • Anna Jakubowska,
  • Paul A. James,
  • Ramunas Janavicius,
  • Rachel C. Jankowitz,
  • Esther M. John,
  • Nichola Johnson,
  • Vijai Joseph,
  • Beth Y. Karlan,
  • Elza Khusnutdinova,
  • Johanna I. Kiiski,
  • Yon-Dschun Ko,
  • Michael E. Jones,
  • Irene Konstantopoulou,
  • Vessela N. Kristensen,
  • Yael Laitman,
  • Diether Lambrechts,
  • Conxi Lazaro,
  • Goska Leslie,
  • Jenny Lester,
  • Fabienne Lesueur,
  • Sara Lindström,
  • Jirong Long,
  • Jennifer T. Loud,
  • Jan Lubiński,
  • Enes Makalic,
  • Arto Mannermaa,
  • Mehdi Manoochehri,
  • Sara Margolin,
  • Tabea Maurer,
  • Dimitrios Mavroudis,
  • Lesley McGuffog,
  • Alfons Meindl,
  • Usha Menon,
  • Kyriaki Michailidou,
  • Austin Miller,
  • Marco Montagna,
  • Fernando Moreno,
  • Lidia Moserle,
  • Anna Marie Mulligan,
  • Katherine L. Nathanson,
  • Susan L. Neuhausen,
  • Heli Nevanlinna,
  • Ines Nevelsteen,
  • Finn C. Nielsen,
  • Liene Nikitina-Zake,
  • Robert L. Nussbaum,
  • Kenneth Offit,
  • Edith Olah,
  • Olufunmilayo I. Olopade,
  • Håkan Olsson,
  • Ana Osorio,
  • Janos Papp,
  • Tjoung-Won Park-Simon,
  • Michael T. Parsons,
  • Inge Sokilde Pedersen,
  • Ana Peixoto,
  • Paolo Peterlongo,
  • Paul D. P. Pharoah,
  • Dijana Plaseska-Karanfilska,
  • Bruce Poppe,
  • Nadege Presneau,
  • Paolo Radice,
  • Johanna Rantala,
  • Gad Rennert,
  • Harvey A. Risch,
  • Emmanouil Saloustros,
  • Kristin Sanden,
  • Elinor J. Sawyer,
  • Marjanka K. Schmidt,
  • Rita K. Schmutzler,
  • Priyanka Sharma,
  • Xiao-Ou Shu,
  • Jacques Simard,
  • Christian F. Singer,
  • Penny Soucy,
  • Melissa C. Southey,
  • John J. Spinelli,
  • Amanda B. Spurdle,
  • Jennifer Stone,
  • Anthony J. Swerdlow,
  • William J. Tapper,
  • Jack A. Taylor,
  • Manuel R. Teixeira,
  • Mary Beth Terry,
  • Alex Teulé,
  • Mads Thomassen,
  • Kathrin Thöne,
  • Darcy L. Thull,
  • Marc Tischkowitz,
  • Amanda E. Toland,
  • Diana Torres,
  • Thérèse Truong,
  • Nadine Tung,
  • Celine M. Vachon,
  • Christi J. van Asperen,
  • Ans M. W. van den Ouweland,
  • Elizabeth J. van Rensburg,
  • Ana Vega,
  • Alessandra Viel,
  • Qin Wang,
  • Barbara Wappenschmidt,
  • Jeffrey N. Weitzel,
  • Camilla Wendt,
  • Robert Winqvist,
  • Xiaohong R. Yang,
  • Drakoulis Yannoukakos,
  • Argyrios Ziogas,
  • Peter Kraft,
  • Antonis C. Antoniou,
  • Wei Zheng,
  • Douglas F. Easton,
  • Roger L. Milne,
  • Jonathan Beesley,
  • Georgia Chenevix-Trench

DOI
https://doi.org/10.1038/s41467-018-08053-5
Journal volume & issue
Vol. 10, no. 1
pp. 1 – 18

Abstract

Read online

Over 170 susceptibility loci have been identified by genome-wide association studies in breast cancer. Here, the authors interrogated the role of risk-associated variants from non-breast tissue, and using expression quantitative trait loci, identify potential target genes of known breast cancer susceptibility variants, as well as 11 regions not previously known to be associated with breast cancer risk.