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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11
Human Molecular Genetics, Volume 21, No. 24, Year 2012
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Description
Genome-wide association studies (GWAS) of breast cancer defined by hormone receptor status have revealed loci contributing to susceptibility of estrogen receptor (ER)-negative subtypes. To identify additional genetic variants for ER-negative breast cancer, we conducted the largest meta-analysis of ER-negative disease to date, comprising 4754 ER-negative cases and 31 663 controls from three GWAS: NCI Breast and Prostate Cancer Cohort Consortium (BPC3) (2188 ER-negative cases; 25 519 controls of European ancestry), Triple Negative Breast Cancer Consortium (TNBCC) (1562 triple negative cases; 3399 controls of European ancestry) and African American Breast Cancer Consortium (AABC) (1004 ER-negative cases; 2745 controls). We performed in silico replication of 86 SNPs at P ≤ 1 × 10-5in an additional 11 209 breast cancer cases (946 with ER-negative disease) and 16 057 controls of Japanese, Latino and European ancestry. We identified two novel loci for breast cancer at 20q11 and 6q14. SNP rs2284378 at 20q11 was associated with ER-negative breast cancer (combined two-stage OR = 1.16; P = 1.1 × 10-8) but showed a weaker association with overall breast cancer (OR = 1.08, P = 1.3 × 10-6) based on 17 869 cases and 43 745 controls and no association with ER-positive disease (OR = 1.01, P = 0.67) based on 9965 cases and 22 902 controls. Similarly, rs17530068 at 6q14 was associated with breast cancer (OR = 1.12; P = 1.1 × 10-9), and with both ER-positive (OR = 1.09; P = 1.5 × 10-5) and ER-negative (OR = 1.16, P = 2.5 × 10-7) disease. We also confirmed three known loci associated with ER-negative (19p13) and both ER-negative and ER-positive breast cancer (6q25 and 12p11). Our results highlight the value of large-scale collaborative studies to identify novel breast cancer risk loci. © The Author 2012. Published by Oxford University Press. All rights reserved.
Authors & Co-Authors
Siddiq, Afshan
United Kingdom, London
Imperial College London
Couch, Fergus J.
United States, Rochester
Mayo Clinic
Chen, Gary K.
United States, Los Angeles
University of Southern California
Lindstrom̈, Sara
United States, Boston
Harvard T.h. Chan School of Public Health
Eccles, Diana M.
United Kingdom, Southampton
University of Southampton, Faculty of Medicine
Millikan, Robert C.
United States, Chapel Hill
The University of North Carolina at Chapel Hill
Michailidou, Kyriaki
United Kingdom, Cambridge
University of Cambridge
Stram, Daniel O.
United States, Los Angeles
University of Southern California
Beckmann, Lars
Germany, Koln
Institut Für Qualität Und Wirtschaftlichkeit Im Gesundheitswesen
Rhie, Suhnkyong
United States, Los Angeles
University of Southern California
Ambrosone, Christine B.
United States, Buffalo
Roswell Park Cancer Institute
Aittomäki, Kristiina A.U.
Finland, Helsinki
Helsinki University Hospital
Amiano, Pilar
Spain, Madrid
Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública
Apicella, Carmel
Australia, Melbourne
University of Melbourne
Baglietto, Laura
Australia, Melbourne
University of Melbourne
Australia, East Melbourne
Cancer Council Victoria
Bandera, E. V.
United States, New Brunswick
Rutgers Cancer Institute of new Jersey
Beckmann, Matthias Wilhelm
Germany, Erlangen
Friedrich-alexander-universität Erlangen-nürnberg
Berg, Christine D.
Unknown Affiliation
Bernstein, Leslie R.
United States, Duarte
City of Hope National Med Center
Blomqvist, Carl Peter
Finland, Helsinki
Helsinki University Hospital
Brauch, Hiltrud B.
Unknown Affiliation
Brinton, Louise Annette
United States, Rockville
National Cancer Institute Nci
Buring, Julie E.
United States, Boston
Harvard Medical School
Buys, Saundra S.
United States, Salt Lake City
The University of Utah
Campa, Daniele
Germany, Heidelberg
German Cancer Research Center
Carpenter, Jane E.
Australia, Parramatta
The Westmead Institute for Medical Research
Chasman, Daniel I.
United States, Boston
Harvard Medical School
Chang-Claude, Jenny C.
Germany, Heidelberg
German Cancer Research Center
Chen, Constance M.
United States, Boston
Harvard T.h. Chan School of Public Health
Clavel-Chapelon, Fraņcoise
France, Villejuif
Centre de Recherche en Épidémiologie et Santé Des Populations
Cox, Angela
Unknown Affiliation
Cross, Simon S.
United Kingdom, Sheffield
The University of Sheffield
Czene, Kamila
Sweden, Stockholm
Karolinska Institutet
Deming, Sandra L.
United States, Nashville
Vanderbilt-ingram Cancer Center
Ryan Diver, W.
United States, Kennesaw
American Cancer Society
Dunning, Alison M.
United Kingdom, Cambridge
University of Cambridge
Durcan, Lorraine T.
United Kingdom, Southampton
University of Southampton, Faculty of Medicine
Ekici, Arif B.
Germany, Erlangen
Friedrich-alexander-universität Erlangen-nürnberg
Fasching, Peter Andreas
Germany, Erlangen
Friedrich-alexander-universität Erlangen-nürnberg
United States, Los Angeles
University of California, Los Angeles
Feigelson, Heather Spencer
United States, Oakland
Kaiser Permanente
Fejerman, Laura
United States, San Francisco
Ucsf Helen Diller Family Comprehensive Cancer Center
Figueroa, Jonine D.
United States, Rockville
National Cancer Institute Nci
Fletcher, Olivia
United Kingdom, London
The Institute of Cancer Research
Flesch-Janys, Dieter
Germany, Hamburg
Universitätsklinikum Hamburg-eppendorf
Gaudet, Mia M.
United States, Kennesaw
American Cancer Society
Gerty, Sue M.
United Kingdom, Southampton
University of Southampton, Faculty of Medicine
Rodriguez-Gil, Jorge L.
United States, Miami
University of Miami Leonard M. Miller School of Medicine
Giles, Graham G.
Australia, Melbourne
University of Melbourne
Australia, East Melbourne
Cancer Council Victoria
van Gils, Carla Henrica
Netherlands, Utrecht
University Medical Center Utrecht
Godwin, Andrew K.
United States, Kansas City
University of Kansas Medical Center
Greco, Dario
Finland, Helsinki
Helsinki University Hospital
Hall, Per F.L.
Sweden, Stockholm
Karolinska Institutet
Hankinson, Susan E.
United States, Boston
Harvard Medical School
Hartmann, Arndt
Germany, Erlangen
Friedrich-alexander-universität Erlangen-nürnberg
Hoover, Robert N.
United States, Rockville
National Cancer Institute Nci
Hopper, John Llewelyn
Australia, Melbourne
University of Melbourne
Hu, Jennifer J.
United States, Miami
University of Miami Leonard M. Miller School of Medicine
Ingles, Sue Ann
United States, Los Angeles
University of Southern California
Isaacs, Claudine J.D.
United States, Washington, D.c.
Georgetown University
Jacobs, Kevin B.
United States, Rockville
National Cancer Institute Nci
United States, Frederick
National Cancer Institute at Frederick
John, Esther M.
United States, Fremont
Cancer Prevention Institute of California
United States, Stanford
Stanford University School of Medicine
Kaaks, Rudolf J.
Germany, Heidelberg
German Cancer Research Center
Kolonel, Laurence N.
United States, Hartford
Connecticut Department of Public Health
Coetzee, Gerhard A.
United States, Los Angeles
University of Southern California
Lathrop, Mark G.
France, Evry
Centre National de Recherche en Génomique Humaine
France, Paris
Fondation Jean Dausset - Ceph
Le Marchand, Loic̈
United States, Hartford
Connecticut Department of Public Health
Lee, Adam M.
United States, Rochester
Mayo Clinic
Lee, I. Min
United States, Boston
Harvard Medical School
Lichtner, Peter K.
Germany, Oberschleissheim
Helmholtz Center Munich German Research Center for Environmental Health
Liu, Jianjun
Singapore, Singapore City
A-star, Genome Institute of Singapore
Lund, Eiliv
Norway, Tromso
Uit Norges Arktiske Universitet
Martin, Nicholas G.
Australia, Brisbane
Qimr Berghofer Medical Research Institute
McLean, Catriona A.
Australia, Melbourne
The Alfred
Meijers-Heijboer, Hanne E.J.
Netherlands, Amsterdam
Amsterdam Umc - Vrije Universiteit Amsterdam
Meindl, Alfons
Germany, Munich
Technische Universität München
Monroe, Kristine R.
United States, Los Angeles
University of Southern California
Montgomery, Grant W.
Australia, Brisbane
Qimr Berghofer Medical Research Institute
Müller-Myhsok, Bertram
Germany, Munich
Max Planck Institute of Psychiatry
Nyante, Sarah J.
United States, Rockville
National Cancer Institute Nci
Olswold, Curtis L.
United States, Rochester
Mayo Clinic
Overvad, Kim
Denmark, Aarhus
Aarhus Universitetshospital
Palli, Domenico
Italy
Centro Per lo Studio e la Prevenzione Oncologica
Palmer, Julie R.P.
United States, Boston
Boston University
Pathak, Harsh B.
United States, Kansas City
University of Kansas Medical Center
Peto, Julian
United Kingdom, London
London School of Hygiene & Tropical Medicine
Pharoah, Paul D.P.
United Kingdom, Cambridge
University of Cambridge
Rahman, Nazneen
United Kingdom, London
The Institute of Cancer Research
Rivadeneira, Fernando F.
Netherlands, Rotterdam
Erasmus Mc
Schmutzler, Rita Katharina
Germany, Koln
Universität zu Köln
Slager, Susan L.
United States, Rochester
Mayo Clinic
Southey, Melissa Caroline
Australia, Melbourne
University of Melbourne
Sinn, Peter Peter
Germany, Heidelberg
Universitätsklinikum Heidelberg
Press, Michael F.
United States, Los Angeles
University of Southern California
Ross, Eric A.
United States, Philadelphia
Fox Chase Cancer Center
Riboli, Elio B.
United Kingdom, London
Imperial College London
Ridker, Paul M.
United States, Boston
Harvard Medical School
Schumacher, Fredrick R.
United States, Los Angeles
University of Southern California
Severi, Gianluca
Australia, Melbourne
University of Melbourne
Australia, East Melbourne
Cancer Council Victoria
Dos Santos Silva, Isabel M.
United Kingdom, London
London School of Hygiene & Tropical Medicine
Stone, Jennifer L.
Australia, Melbourne
University of Melbourne
Sund, Malin
Sweden, Umea
Umeå Universitet
Tapper, William J.
United Kingdom, Southampton
University of Southampton, Faculty of Medicine
Thun, Michael J.
United States, Kennesaw
American Cancer Society
Travis, Ruth C.
United Kingdom, Oxford
University of Oxford Medical Sciences Division
Turnbull, Clare A.
United Kingdom, London
The Institute of Cancer Research
Uitterlinden, André G.
Netherlands, Rotterdam
Erasmus Mc
Waisfisz, Quinten
Netherlands, Amsterdam
Amsterdam Umc - Vrije Universiteit Amsterdam
Wang, Xianshu
United States, Rochester
Mayo Clinic
Wang, Zhaoming
United States, Rockville
National Cancer Institute Nci
United States, Frederick
National Cancer Institute at Frederick
Wilkens, Lynne Ross
United States, Hartford
Connecticut Department of Public Health
van den Berg, David J.
United States, Los Angeles
University of Southern California
Zheng, Wei
United States, Nashville
Vanderbilt-ingram Cancer Center
Ziegler, Regina G.
United States, Rockville
National Cancer Institute Nci
Ziv, Elad
United States, San Francisco
Ucsf Helen Diller Family Comprehensive Cancer Center
Nevanlinna, Heli A.
Finland, Helsinki
Helsinki University Hospital
d'Adamo, Adamo P.
United Kingdom, Cambridge
University of Cambridge
Hunter, D. J.
United States, Boston
Harvard T.h. Chan School of Public Health
Henderson, Brian E.
United States, Los Angeles
University of Southern California
Chanock, Stephen J.
United States, Rockville
National Cancer Institute Nci
García-Closas, Montserrat
United Kingdom, London
The Institute of Cancer Research
Kraft, Peter
United States, Boston
Harvard T.h. Chan School of Public Health
Haiman, Christopher A.
United States, Los Angeles
University of Southern California
Vachon, Celine M.
United States, Rochester
Mayo Clinic
Statistics
Citations: 144
Authors: 123
Affiliations: 60
Identifiers
Doi:
10.1093/hmg/dds381
ISSN:
09646906
Research Areas
Cancer
Genetics And Genomics
Study Design
Cohort Study
Study Approach
Systematic review