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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170
Nature Genetics, Volume 48, No. 4, Year 2016
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Description
We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each associated with different phenotype sets, including estrogen receptor (ER + or ER -) and human ERBB2 (HER2 + or HER2 -) tumor subtypes, mammographic density and tumor grade. The best candidate causal variants for ER - tumors lie in four separate enhancer elements, and their risk alleles reduce expression of ESR1, RMND1 and CCDC170, whereas the risk alleles of the strongest candidates for the remaining independent causal variant disrupt a silencer element and putatively increase ESR1 and RMND1 expression. © 2016 Nature America, Inc.
Authors & Co-Authors
Dunning, Alison M.
United Kingdom, Cambridge
University of Cambridge
Michailidou, Kyriaki
United Kingdom, Cambridge
University of Cambridge
Kuchenbaecker, Karoline B.
United Kingdom, Cambridge
University of Cambridge
Thompson, Deborah J.
United Kingdom, Cambridge
University of Cambridge
French, Juliet D.
Australia, Brisbane
Qimr Berghofer Medical Research Institute
Beesley, Jonathan
Australia, Brisbane
Qimr Berghofer Medical Research Institute
Healey, Catherine S.
United Kingdom, Cambridge
University of Cambridge
Kar, Siddhartha P.
United Kingdom, Cambridge
University of Cambridge
Pooley, Karen A.
United Kingdom, Cambridge
University of Cambridge
López-Knowles, Elena
United Kingdom, London
The Royal Marsden Hospital
Dicks, Ed M.
United Kingdom, Cambridge
University of Cambridge
Barrowdale, Daniel
United Kingdom, Cambridge
University of Cambridge
Hillman, Kristine M.
Australia, Brisbane
Qimr Berghofer Medical Research Institute
Kaufmann, Susanne
Australia, Brisbane
Qimr Berghofer Medical Research Institute
Sivakumaran, Haran
Australia, Brisbane
Qimr Berghofer Medical Research Institute
Marjaneh, Mahdi Moradi
Australia, Brisbane
Qimr Berghofer Medical Research Institute
Canisius, Sander V.M.
Netherlands, Amsterdam
The Netherlands Cancer Institute
Dennis, Joe G.
United Kingdom, Cambridge
University of Cambridge
Wang, Qin
United Kingdom, Cambridge
University of Cambridge
Hopper, John Llewelyn
Australia, Melbourne
University of Melbourne
Southey, Melissa Caroline
Australia, Melbourne
University of Melbourne
Broeks, Annegien
Netherlands, Amsterdam
The Netherlands Cancer Institute
Schmidt, Marjanka K.
Netherlands, Amsterdam
The Netherlands Cancer Institute
Lophatananon, Artitaya
United Kingdom, Coventry
University of Warwick
Muir, Kenneth Ross
United Kingdom, Coventry
University of Warwick
United Kingdom, Manchester
The University of Manchester
Beckmann, Matthias Wilhelm
Unknown Affiliation
Fasching, Peter Andreas
United States, Los Angeles
University of California, Los Angeles
Dos Santos Silva, Isabel M.
United Kingdom, London
London School of Hygiene & Tropical Medicine
Peto, Julian
United Kingdom, London
London School of Hygiene & Tropical Medicine
Sawyer, Elinor J.
United Kingdom, London
King's College London
Tomlinson, Ian P.M.
United Kingdom, Oxford
University of Oxford
United Kingdom, Oxford
Nihr Oxford Biomedical Research Centre
Burwinkel, Barbara
Germany, Heidelberg
German Cancer Research Center
Marmé, Frederik
Germany, Heidelberg
German Cancer Research Center
Germany, Heidelberg
Universität Heidelberg
Guénel, Pascal
France, Paris
Inserm
France, Gif-sur-yvette
Université Paris-saclay
Truong, Thérèse
France, Paris
Inserm
France, Gif-sur-yvette
Université Paris-saclay
Bojesen, Stig Egil
Denmark, Copenhagen
Copenhagen University Hospital
Denmark, Copenhagen
Københavns Universitet
Flyger, Henrik Lavlund
Denmark, Copenhagen
Copenhagen University Hospital
Arias-Pérez, José Ignacio
Spain, Oviedo
Hospital Monte Naranco
Anton-Culver, Hoda
United States, Irvine
University of California, Irvine
Eunjung, Lee
United States, Los Angeles
University of Southern California
Arndt, Volker
Germany, Heidelberg
German Cancer Research Center
Brenner, Hermann
Germany, Heidelberg
German Cancer Research Center
Meindl, Alfons
Germany, Munich
Technische Universität München
Schmutzler, Rita Katharina
Germany, Koln
Uniklinik Köln
Brauch, Hiltrud B.
Germany, Heidelberg
German Cancer Research Center
Germany, Stuttgart
Dr. Margarete Fischer-bosch-institut Für Klinische Pharmakologie
Germany, Tubingen
Eberhard Karls Universität Tübingen
Hamann, Ute
Germany, Heidelberg
German Cancer Research Center
Blomqvist, Carl Peter
Finland, Helsinki
Helsingin Yliopisto
Ito, Hidemi
Japan, Nagoya
Aichi Cancer Center Hospital and Research Institute
Matsuo, Keitaro
Japan, Nagoya
Aichi Cancer Center Hospital and Research Institute
Bogdanova, Natalia Valerijevna
Germany, Hannover
Hannover Medical School
Dörk, Thilo
Germany, Hannover
Hannover Medical School
Lindblöm, Annika
Sweden, Stockholm
Karolinska Institutet
Margolin, Sara J.
Sweden, Stockholm
Karolinska Universitetssjukhuset
Kosma, Veli Matti
Finland, Kuopio
Kuopio University Hospital
Finland, Kuopio
Itä-suomen Yliopisto
Mannermaa, Arto Msci
Finland, Kuopio
Kuopio University Hospital
Finland, Kuopio
Itä-suomen Yliopisto
Wu, Anna H.
United States, Los Angeles
University of Southern California
Lambrechts, Diether
Belgium, Leuven
Vesalius Research Center
Belgium, Leuven
Ku Leuven
Wildiers, Hans P.M.W.
Belgium, Leuven
Ku Leuven– University Hospital Leuven
Chang-Claude, Jenny C.
Germany, Heidelberg
German Cancer Research Center
Germany, Hamburg
Universitätsklinikum Hamburg-eppendorf
Rudolph, Anja
Germany, Heidelberg
German Cancer Research Center
Peterlongo, Paolo
Italy, Milan
Fondazione Ifom Istituto Firc Di Oncologia Molecolare
Radice, Paolo
Italy, Milan
Fondazione Irccs Istituto Nazionale Dei Tumori, Milan
Olson, Janet E.
United States, Rochester
Mayo Clinic
Milne, Roger L.
Australia, Melbourne
University of Melbourne
Australia, East Melbourne
Cancer Council Victoria
Haiman, Christopher A.
United States, Los Angeles
University of Southern California
Henderson, Brian E.
United States, Los Angeles
University of Southern California
Goldberg, Mark S.
Canada, Montreal
Université Mcgill
Teo, Soo Hwang
Malaysia, Subang Jaya
Cancer Reserach Initiatives Foundation, Malaysia
Malaysia, Kuala Lumpur
Universiti Malaya
Yip, Chenghar Har
Malaysia, Kuala Lumpur
Universiti Malaya
Nord, Silje H.
Norway, Oslo
Oslo Universitetssykehus
Børresen-Dale, Anne Lise
Norway, Oslo
Oslo Universitetssykehus
Norway, Oslo
Universitetet I Oslo
Kristensen, Vessela N.
Norway, Oslo
Oslo Universitetssykehus
Norway, Oslo
Universitetet I Oslo
Long, Jirong
United States, Nashville
Vanderbilt University
Zheng, Wei
United States, Nashville
Vanderbilt University
Winqvist, Robert
Finland, Oulu
Oulun Yliopisto
Finland, Oulu
Northern Finland Laboratory Centre Nordlab
Andrulis, Irene L.
Canada, Toronto
Mount Sinai Hospital of University of Toronto
Canada, Toronto
University of Toronto
Knight, Julia A.
Canada, Toronto
Mount Sinai Hospital of University of Toronto
Canada, Toronto
University of Toronto
Devilée, Peter P.
Netherlands, Leiden
Leids Universitair Medisch Centrum
Seynaeve, Caroline M.
Netherlands, Rotterdam
Erasmus Mc
Figueroa, Jonine D.
United States, Rockville
National Cancer Institute Nci
Sherman, Mark E.
United States, Rockville
National Cancer Institute Nci
Czene, Kamila
Sweden, Stockholm
Karolinska Institutet
Darabi, Hatef
Sweden, Stockholm
Karolinska Institutet
Hollestelle, Antoinette
Netherlands, Rotterdam
Erasmus Mc
van den Ouweland, Ans M.W.
Netherlands, Rotterdam
Erasmus Mc
Humphreys, Keith
Sweden, Stockholm
Karolinska Institutet
Gao, Yutang
China, Shanghai
Shanghai Cancer Institute
Shu, Xiaoou
United States, Nashville
Vanderbilt University
Cox, Angela
United Kingdom, Sheffield
The University of Sheffield
Cross, Simon S.
United Kingdom, Sheffield
The University of Sheffield
Blot, William James
United States, Nashville
Vanderbilt University
United States, Rockville
International Epidemiology Institute
Cai, Qiuyin
United States, Nashville
Vanderbilt University
Ghoussaini, Maya
United Kingdom, Cambridge
University of Cambridge
Perkins, Barbara J.
United Kingdom, Cambridge
University of Cambridge
Shah, Mitul N.
United Kingdom, Cambridge
University of Cambridge
Choi, Ji-yeob
South Korea, Seoul
Seoul National University
Lee, Soochin
Singapore, Singapore City
National University Health System
Singapore, Singapore City
National University of Singapore
Hartman, Mikael L.
Singapore, Singapore City
National University of Singapore
Singapore, Singapore City
National University Health System
Torres, D. M.
Germany, Heidelberg
German Cancer Research Center
Colombia, Bogota
Pontificia Universidad Javeriana
Jakubowska, Anna
Poland, Szczecin
Pomeranian Medical University in Szczecin
Lubiński, Jan
Poland, Szczecin
Pomeranian Medical University in Szczecin
Brennan, Paul J.
France, Lyon
Centre International de Recherche Sur le Cancer
Sangrajrang, Suleeporn
Thailand
National Cancer Institute Thailand
Ambrosone, Christine B.
United States, Buffalo
Roswell Park Cancer Institute
Toland, Amanda Ewart
United States, Columbus
The Ohio State University
Shen, Chenyang
Taiwan, Taichung
China Medical University
Taiwan, Nankang
Academia Sinica Taiwan
Wu, Pei Ei
Taiwan, Nankang
Academia Sinica Taiwan
Orr, Nick J.
United Kingdom, London
The Institute of Cancer Research
Swerdlow, Anthony J.
United Kingdom, London
The Institute of Cancer Research
McGuffog, Lesley
United Kingdom, Cambridge
University of Cambridge
Healey, Sue C.
Australia, Brisbane
Qimr Berghofer Medical Research Institute
Lee, Andrew J.
United Kingdom, Cambridge
University of Cambridge
John, Esther M.
United States, Fremont
Cancer Prevention Institute of California
Terry, Mary Beth Eth
United States, New York
Columbia University
Daly, Mary B.
United States, Philadelphia
Fox Chase Cancer Center
Goldgar, David E.
United States, Salt Lake City
The University of Utah
Buys, Saundra S.
United States, Salt Lake City
The University of Utah
Janavičius, Ramūnas
Lithuania, Vilnius
State Research Institute Centre for Innovative Medicine
Tihomirova, Laima P.
Latvia, Riga
Latvian Biomedical Research and Study Centre
Tung, Nadine M.
United States, Boston
Beth Israel Deaconess Medical Center
Dorfling, Cecilia M.
South Africa, Pretoria
University of Pretoria
van Rensburg, Elizabeth J.
South Africa, Pretoria
University of Pretoria
Floris, Giuseppe L.
United States, Duarte
City of Hope National Med Center
Ejlertsen, Bent
Denmark, Copenhagen
Copenhagen University Hospital
Osorio, Ana
Spain, Madrid
Centro Nacional de Investigaciones Oncológicas
Spain, Madrid
Centro de Investigación Biomédica en Red de Enfermedades Raras
Benit́ez, Javier J.
Spain, Madrid
Centro Nacional de Investigaciones Oncológicas
Spain, Madrid
Centro de Investigación Biomédica en Red de Enfermedades Raras
Weitzel, Jeffrey Nelson
United States, Duarte
City of Hope National Med Center
Bonanni, Bernardo
Italy, Milan
Istituto Europeo Di Oncologia
Peissel, Bernard
Italy, Milan
Fondazione Irccs Istituto Nazionale Dei Tumori, Milan
Manoukian, Siranoush
Italy, Milan
Fondazione Irccs Istituto Nazionale Dei Tumori, Milan
Papi, Laura
Italy, Florence
Università Degli Studi Di Firenze
Ottini, Laura
Italy, Rome
Sapienza Università Di Roma
Konstantopoulou, Irene
Greece, Athens
National Centre for Scientific Research Demokritos
Apostolou, Paraskevi
Greece, Athens
National Centre for Scientific Research Demokritos
Garber, Judy Ellen
United States, Boston
Dana-farber Cancer Institute
Rashid, Muhammad Usman
Germany, Heidelberg
German Cancer Research Center
Pakistan, Lahore
Shaukat Khanum Memorial Cancer Hospital and Research Centre
Frost, Debra
United Kingdom, Cambridge
University of Cambridge
Izatt, Louise
United Kingdom, London
Guy's and st Thomas' Nhs Foundation Trust
Ellis, Steve D.
United Kingdom, Cambridge
University of Cambridge
Godwin, Andrew K.
United States, Kansas City
University of Kansas Medical Center
Arnold, Norbert K.
Germany, Kiel
Christian-albrechts-universität zu Kiel
Niederacher, Dieter
Germany, Dusseldorf
Heinrich-heine-universität Düsseldorf
Rhiem, Kerstin M.
Germany, Koln
Uniklinik Köln
Stoppa-Lyonnet, Dominique
France, Paris
Institut Curie
France, Paris
Université Paris Cité
Damiola, Francesca
France, Lyon
Université de Lyon
Sinilnikova, Olga M.
France, Lyon
Université de Lyon
France, Lyon
Le Centre Régional de Lutte Contre le Cancer Léon Bérard
Mazoyer, Sylvie
France, Lyon
Université de Lyon
Isaacs, Claudine J.
United States, Washington, D.c.
Georgetown University
de Leeneer, Kim
Belgium, Ghent
Universiteit Gent
de la Hoya, Miguel
Spain, Madrid
Hospital Clínico San Carlos
Caldés, Trinidad
Spain, Madrid
Hospital Clínico San Carlos
Nevanlinna, Heli A.
Finland, Helsinki
Helsinki University Hospital
Mensenkamp, Arjen R.
Netherlands, Nijmegen
Radboud Universiteit
Rookus, Matti A.
Netherlands, Amsterdam
The Netherlands Cancer Institute
Kwong, Ava
China, Hong Kong
Hong Kong Sanatorium and Hospital
Hong Kong, Hong Kong
The University of Hong Kong
Olàh, Edith
Hungary, Budapest
Országos Onkológiai Intézet Budapest
Díez, Orland
Spain, Barcelona
Hospital Universitari Vall D'hebron
Brunet, Joan Maria
Spain, Salt
Institut D'investigació Biomèdica de Girona Dr. Josep Trueta
Pujana, Miguel Àngel G.
Spain, Hospitalet de Llobregat
Institut D'investigació Biomedica de Bellvitge
Gronwald, Jacek
Poland, Szczecin
Pomeranian Medical University in Szczecin
Huzarski, Tomasz
Poland, Szczecin
Pomeranian Medical University in Szczecin
Barkardóttir, Rósa Björk
Iceland, Reykjavik
Haskoli Islands
Soucy, Penny
Canada, Quebec
Université Laval
Montagna, Marco
Italy, Padua
Istituto Oncologico Veneto Iov - Irccs
Agata, Simona
Italy, Padua
Istituto Oncologico Veneto Iov - Irccs
Teixeira, Manuel Rodrigues
Portugal, Porto
Instituto Português de Oncologia do Porto fg
Portugal, Porto
Universidade do Porto
Park, Suekyung
South Korea, Seoul
Seoul National University
Lindor, Noralane M.
United States, Rochester
Mayo Clinic
Couch, Fergus J.
United States, Rochester
Mayo Clinic
Tischkowitz, Marc D.
Canada, Montreal
Université Mcgill
Forétova, Lenka
Czech Republic, Brno
Masaryk Memorial Cancer Institute
Offit, Kenneth
United States, New York
Memorial Sloan-kettering Cancer Center
Singer, Christian Fridolin
Austria, Vienna
Medizinische Universität Wien
Rappaport-Fuerhauser, Christine F.
Austria, Vienna
Medizinische Universität Wien
Greene, Mark H.
United States, Bethesda
National Institutes of Health Nih
Mai, Phuong L.
United States, Bethesda
National Institutes of Health Nih
Rennert, Gad
Israel, Haifa
Technion - Israel Institute of Technology
Israel, Tel Aviv-yafo
Clalit Health Services
Imyanitov, Evgeny N.
Russian Federation, Saint Petersburg
N.n. Petrov Research Institute of Oncology of the Ussr Ministry of Health
Hulick, Peter J.
United States, Evanston
Northshore University Healthsystem
Phillips, K. A.
Australia, Melbourne
Peter Maccallum Cancer Centre
Piedmonte, Marion R.
United States, Buffalo
Roswell Park Cancer Institute
Mulligan, Anna Marie
Canada, Toronto
University Health Network University of Toronto
Canada, Toronto
University of Toronto
Glendon, Gord
Canada, Toronto
Mount Sinai Hospital of University of Toronto
Bojesen, Anders Bo
Denmark, Vejle
Sygehus Lillebælt - Vejle
Thomassen, Mads Christella L.G.D.
Denmark, Odense
Odense Universitetshospital
Caligo, Maria Adelaide
Italy, Pisa
Università Di Pisa
Friedman, Eitan A.
Israel, Tel Hashomer Tel Aviv
Chaim Sheba Medical Center Israel
Laitman, Yael
Israel, Tel Hashomer Tel Aviv
Chaim Sheba Medical Center Israel
Borg, Åke
Sweden, Lund
Lunds Universitet
Ehrencrona, Hans
Sweden, Uppsala
Uppsala Universitet
Sweden, Lund
Skånes Universitetssjukhus
Rantala, Johanna
Sweden, Stockholm
Karolinska Universitetssjukhuset
Olopade, Olufunmilayo Ibironke
United States, Chicago
The University of Chicago Medicine
Ganz, Patricia A.
United States, Los Angeles
University of California, Los Angeles
Nussbaum, Robert Luke
United States, San Francisco
University of California, San Francisco
Gayther, Simon A.
United States, Los Angeles
University of Southern California
Domchek, Susan M.
United States, Philadelphia
University of Pennsylvania Perelman School of Medicine
Arun, Banu K.
United States, Houston
The University of Texas Md Anderson Cancer Center
Mitchell, Gillian
Australia, Melbourne
Peter Maccallum Cancer Centre
Karlan, Beth Y.
United States, Los Angeles
Cedars-sinai Medical Center
Lester, Jenny
United States, Los Angeles
Cedars-sinai Medical Center
Maskarinec, Gertraud
United States, Honolulu
University of Hawaiʻi Cancer Center
Woolcott, C. G.
Canada, Halifax
Dalhousie University, Faculty of Medicine
Scott, Christopher G.
United States, Rochester
Mayo Clinic
Stone, Jennifer L.
Australia, Perth
Centre for Genetic Origins of Health and Disease
Apicella, Carmel
Australia, Melbourne
University of Melbourne
Tamimi, Rulla M.
United States, Boston
Brigham and Women's Hospital
United States, Boston
Harvard T.h. Chan School of Public Health
Luben, Robert N.
United Kingdom, Cambridge
University of Cambridge
Khaw, Kay Tee T.
United Kingdom, Cambridge
University of Cambridge
Dowsett, Mitch J.
United Kingdom, London
The Royal Marsden Hospital
Pharoah, Paul D.P.
United Kingdom, Cambridge
University of Cambridge
Simard, Jacques
Canada, Quebec
Université Laval
Hall, Per F.L.
Sweden, Stockholm
Karolinska Institutet
García-Closas, Montserrat
United Kingdom, London
The Institute of Cancer Research
Vachon, Celine M.
United States, Rochester
Mayo Clinic
Chenevix-Trench, Georgia
Australia, Brisbane
Qimr Berghofer Medical Research Institute
Antoniou, Antonis C.
United Kingdom, Cambridge
University of Cambridge
Easton, Douglas F.
United Kingdom, Cambridge
University of Cambridge
Statistics
Citations: 107
Authors: 217
Affiliations: 139
Identifiers
Doi:
10.1038/ng.3521
ISSN:
10614036
Research Areas
Cancer
Genetics And Genomics