Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus
Breast Cancer Research, Volume 18, No. 1, Article 64, Year 2016
Notification
URL copied to clipboard!
Description
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. Method: We performed a fine-scale mapping study of a 700 kb region including 441 genotyped and more than 1300 imputed genetic variants in 48,155 cases and 43,612 controls of European descent, 6269 cases and 6624 controls of East Asian descent and 1116 cases and 932 controls of African descent in the Breast Cancer Association Consortium (BCAC; http://bcac.ccge.medschl.cam.ac.uk/ ), and in 15,252 BRCA1 mutation carriers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Stepwise regression analyses were performed to identify independent association signals. Data from the Encyclopedia of DNA Elements project (ENCODE) and the Cancer Genome Atlas (TCGA) were used for functional annotation. Results: Analysis of data from European descendants found evidence for four independent association signals at 12p11, represented by rs7297051 (odds ratio (OR) = 1.09, 95 % confidence interval (CI) = 1.06-1.12; P = 3 × 10-9), rs805510 (OR = 1.08, 95 % CI = 1.04-1.12, P = 2 × 10-5), and rs1871152 (OR = 1.04, 95 % CI = 1.02-1.06; P = 2 × 10-4) identified in the general populations, and rs113824616 (P = 7 × 10-5) identified in the meta-analysis of BCAC ER-negative cases and BRCA1 mutation carriers. SNPs rs7297051, rs805510 and rs113824616 were also associated with breast cancer risk at P < 0.05 in East Asians, but none of the associations were statistically significant in African descendants. Multiple candidate functional variants are located in putative enhancer sequences. Chromatin interaction data suggested that PTHLH was the likely target gene of these enhancers. Of the six variants with the strongest evidence of potential functionality, rs11049453 was statistically significantly associated with the expression of PTHLH and its nearby gene CCDC91 at P < 0.05. Conclusion: This study identified four independent association signals at 12p11 and revealed potentially functional variants, providing additional insights into the underlying biological mechanism(s) for the association observed between variants at 12p11 and breast cancer risk. © 2016 The Author(s).
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC4962376/bin/13058_2016_718_MOESM1_ESM.pdf
https://efashare.b-cdn.net/share/pmc/articles/PMC4962376/bin/13058_2016_718_MOESM2_ESM.pdf
https://efashare.b-cdn.net/share/pmc/articles/PMC4962376/bin/13058_2016_718_MOESM3_ESM.pdf
https://efashare.b-cdn.net/share/pmc/articles/PMC4962376/bin/13058_2016_718_MOESM4_ESM.pdf
https://efashare.b-cdn.net/share/pmc/articles/PMC4962376/bin/13058_2016_718_MOESM5_ESM.pdf
https://efashare.b-cdn.net/share/pmc/articles/PMC4962376/bin/13058_2016_718_MOESM6_ESM.pdf
https://efashare.b-cdn.net/share/pmc/articles/PMC4962376/bin/13058_2016_718_MOESM7_ESM.pdf
Authors & Co-Authors
Zeng, Chenjie
United States, Nashville
Vanderbilt University School of Medicine
Guo, Xingyi
United States, Nashville
Vanderbilt University School of Medicine
Long, Jirong
United States, Nashville
Vanderbilt University School of Medicine
Kuchenbaecker, Karoline B.
United Kingdom, Cambridge
University of Cambridge
Droit, Arnaud
Canada, Quebec
Université Laval
Michailidou, Kyriaki
United Kingdom, Cambridge
University of Cambridge
Ghoussaini, Maya
United Kingdom, Cambridge
University of Cambridge
Kar, Siddhartha P.
United Kingdom, Cambridge
University of Cambridge
Freeman, Adam N.
Australia, Fitzroy
St. Vincent's Hospital Melbourne
Hopper, John Llewelyn
Australia, Melbourne
University of Melbourne
Milne, Roger L.
Australia, Melbourne
University of Melbourne
Australia, East Melbourne
Cancer Council Victoria
Bolla, Manjeet K.
United Kingdom, Cambridge
University of Cambridge
Wang, Qin
United Kingdom, Cambridge
University of Cambridge
Dennis, Joe G.
United Kingdom, Cambridge
University of Cambridge
Agata, Simona
Italy, Padua
Istituto Oncologico Veneto Iov - Irccs
Ahmed, Shahana
United Kingdom, Cambridge
University of Cambridge
Aittomäki, Kristiina A.U.
Finland, Helsinki
Helsinki University Hospital
Andrulis, Irene L.
Canada, Toronto
Mount Sinai Hospital of University of Toronto
Canada, Toronto
University of Toronto
Anton-Culver, Hoda
United States, Irvine
University of California, Irvine
Antonenkova, Natalia Nikolaevna
Belarus, Minsk
Research Institute of Oncology and Medical Radiology of the Ministry of Health of the Byelorussian Ssr
Arason, Adalgeir
Iceland, Reykjavik
Landspitali - the National University Hospital of Iceland
Arndt, Volker
Germany, Heidelberg
German Cancer Research Center
Arun, Banu K.
United States, Houston
The University of Texas Md Anderson Cancer Center
Arver, Brita Wasteson
Sweden, Stockholm
Karolinska Universitetssjukhuset
Bacot, François
Canada, Montreal
Université Mcgill
Barrowdale, Daniel
United Kingdom, Cambridge
University of Cambridge
Baynes, Caroline
United Kingdom, Cambridge
University of Cambridge
Beeghly-Fadiel, Alicia
United States, Nashville
Vanderbilt University School of Medicine
Benit́ez, Javier J.
Spain, Madrid
Centro Nacional de Investigaciones Oncológicas
Bermisheva, Marina A.
Unknown Affiliation
Blomqvist, Carl Peter
Finland, Helsinki
Helsinki University Hospital
Blot, William James
United States, Nashville
Vanderbilt University School of Medicine
United States, Rockville
International Epidemiology Institute
Bogdanova, Natalia Valerijevna
Germany, Hannover
Hannover Medical School
Bojesen, Stig Egil
Denmark, Copenhagen
Copenhagen University Hospital
Denmark, Copenhagen
Københavns Universitet
Bonanni, Bernardo
Italy, Milan
Istituto Europeo Di Oncologia
Børresen-Dale, Anne Lise
Norway, Oslo
Rikshospitalet-radiumhospitalet hf
Norway, Oslo
Universitetet I Oslo
Brand, Judith S.
Sweden, Stockholm
Karolinska Institutet
Brauch, Hiltrud B.
Germany, Stuttgart
Dr. Margarete Fischer-bosch-institut Für Klinische Pharmakologie
Germany, Tubingen
Eberhard Karls Universität Tübingen
Germany, Heidelberg
German Cancer Research Center
Brennan, Paul J.
France, Lyon
Centre International de Recherche Sur le Cancer
Brenner, Hermann
Germany, Heidelberg
German Cancer Research Center
Broeks, Annegien
Netherlands, Amsterdam
The Netherlands Cancer Institute
Brüning, Thomas A.
Germany, Bochum
Institut Für Prävention Und Arbeitsmedizin Der Deutschen Gesetzlichen Unfallversicherung
Burwinkel, Barbara
Germany, Heidelberg
Universität Heidelberg
Germany, Heidelberg
German Cancer Research Center
Buys, Saundra S.
United States, Salt Lake City
Huntsman Cancer Institute
Cai, Qiuyin
United States, Nashville
Vanderbilt University School of Medicine
Caldés, Trinidad
Spain, Madrid
Hospital Clínico San Carlos
Campbell, I. G. G.
Australia, Melbourne
Peter Maccallum Cancer Centre
Carpenter, Jane E.
Australia, Parramatta
The Westmead Institute for Medical Research
Chang-Claude, Jenny C.
Germany, Heidelberg
German Cancer Research Center
Germany, Hamburg
Universitätsklinikum Hamburg-eppendorf
Choi, Ji-yeob
South Korea, Seoul
Seoul National University College of Medicine
South Korea, Seoul
Seoul National University
Claes, Kathleen B.M.
Belgium, Ghent
Universiteit Gent
Clarke, Christine L.
Australia, Parramatta
The Westmead Institute for Medical Research
Cox, Angela
United Kingdom, Sheffield
The University of Sheffield
Cross, Simon S.
United Kingdom, Sheffield
The University of Sheffield
Czene, Kamila
Sweden, Stockholm
Karolinska Institutet
Daly, Mary B.
United States, Philadelphia
Fox Chase Cancer Center
de la Hoya, Miguel
Spain, Madrid
Hospital Clínico San Carlos
de Leeneer, Kim
Belgium, Ghent
Universiteit Gent
Devilée, Peter P.
Netherlands, Leiden
Leids Universitair Medisch Centrum
Díez, Orland
Spain, Cerdanyola Del Valles
Universitat Autònoma de Barcelona
Domchek, Susan M.
United States, Philadelphia
University of Pennsylvania Perelman School of Medicine
Doody, Michele Morin
United States, Rockville
National Cancer Institute Nci
Dorfling, Cecilia M.
South Africa, Pretoria
University of Pretoria
Dörk, Thilo
Germany, Hannover
Hannover Medical School
Dos Santos Silva, Isabel M.
United Kingdom, London
London School of Hygiene & Tropical Medicine
Dumont, Martine
Canada, Quebec
Université Laval
Dwek, Miriam Victoria
United Kingdom, London
University of Westminster
Dworniczak, Bernd P.
Unknown Affiliation
Egan, Kathleen Marie
United States, Tampa
Moffitt Cancer Center
Eilber, Ursula
Germany, Heidelberg
German Cancer Research Center
Einbeigi, Zakaria
Sweden, Gothenburg
Sahlgrenska Universitetssjukhuset
Ejlertsen, Bent
Denmark, Copenhagen
Copenhagen University Hospital
Ellis, Steve D.
United Kingdom, Cambridge
University of Cambridge
Frost, Debra
United Kingdom, Cambridge
University of Cambridge
Lalloo, Fiona I.
United Kingdom, Manchester
Health Innovation Manchester
Fasching, Peter Andreas
United States, Los Angeles
University of California, Los Angeles
Figueroa, Jonine D.
United States, Rockville
National Cancer Institute Nci
Flyger, Henrik Lavlund
Denmark, Copenhagen
Copenhagen University Hospital
Friedlander, M. L.
Unknown Affiliation
Friedman, Eitan A.
Israel, Tel Hashomer Tel Aviv
Chaim Sheba Medical Center Israel
Gambino, Gaetana
Italy, Pisa
Università Di Pisa
Gao, Yutang
China, Shanghai
Shanghai Cancer Institute
Garber, Judy Ellen
United States, Boston
Dana-farber Cancer Institute
García-Closas, Montserrat
United States, Rockville
National Cancer Institute Nci
United Kingdom, London
The Institute of Cancer Research
Gehrig, Andrea E.
Germany, Wurzburg
Julius-maximilians-universität Würzburg
Damiola, Francesca
France, Lyon
Université de Lyon
Lesueur, Fabienne El Khoury
France, Paris
Inserm
Mazoyer, Sylvie
France, Lyon
Université de Lyon
Stoppa-Lyonnet, Dominique
France, Paris
Institut Curie
France, Paris
Université Paris Cité
Giles, Graham G.
Australia, Melbourne
University of Melbourne
Australia, East Melbourne
Cancer Council Victoria
Godwin, Andrew K.
United States, Kansas City
University of Kansas Medical Center
Goldgar, David E.
United States, Salt Lake City
Huntsman Cancer Institute
González-Neira, Anna
Spain, Madrid
Centro Nacional de Investigaciones Oncológicas
Greene, Mark H.
United States, Bethesda
National Institutes of Health Nih
Guénel, Pascal
France, Paris
Inserm
France, Gif-sur-yvette
Université Paris-saclay
Haeberle, Lothar
Unknown Affiliation
Haiman, Christopher A.
United States, Los Angeles
University of Southern California
Hallberg, Emily J.
United States, Rochester
Mayo Clinic
Hamann, Ute
Germany, Heidelberg
German Cancer Research Center
Hansen, Thomas Van Overeem
Denmark, Copenhagen
Copenhagen University Hospital
Hart, Steven N.
United States, Rochester
Mayo Clinic
Hartikainen, Jaana M.
Finland, Kuopio
Kuopio University Hospital
Finland, Kuopio
Itä-suomen Yliopisto
Hartman, Mikael L.
Singapore, Singapore City
National University of Singapore
Singapore, Singapore City
National University Health System
Healey, Sue C.
Australia, Brisbane
Qimr Berghofer Medical Research Institute
Hogervorst, Frans B.L.
Netherlands, Amsterdam
The Netherlands Cancer Institute
Verhoef, Senno
Netherlands, Amsterdam
The Netherlands Cancer Institute
Hendricks, Carolyn B.
United States, Bethesda
Suburban Hospital
United States, Duarte
City of Hope National Med Center
Hillemanns, Peter A.
Germany, Hannover
Hannover Medical School
Hollestelle, Antoinette
Netherlands, Rotterdam
Erasmus Mc Cancer Institute
Hulick, Peter J.
United States, Evanston
Northshore University Healthsystem
Hunter, David John
United States, Boston
Harvard T.h. Chan School of Public Health
Imyanitov, Evgeny N.
Russian Federation, Saint Petersburg
N.n. Petrov Research Institute of Oncology of the Ussr Ministry of Health
Isaacs, Claudine J.
United States, Washington, D.c.
Georgetown University
Ito, Hidemi
Japan, Nagoya
Aichi Cancer Center Hospital and Research Institute
Jakubowska, Anna
Poland, Szczecin
Pomeranian Medical University in Szczecin
Janavičius, Ramūnas
Lithuania, Vilnius
State Research Institute Centre for Innovative Medicine
Jaworska-Bieniek, Katarzyna
Poland, Szczecin
Pomeranian Medical University in Szczecin
Jensen, Uffe Birk
Denmark, Aarhus
Aarhus Universitetshospital
John, Esther M.
United States, Fremont
Cancer Prevention Institute of California
United States, Stanford
Stanford University School of Medicine
Jones, Michael E.
United Kingdom, London
The Institute of Cancer Research
Karlan, Beth Y.
United States, Los Angeles
Cedars-sinai Medical Center
Kerin, Michael J.
Ireland, Galway
University of Galway
Khusnutdinova, Ehl'za Kh
Russian Federation, Ufa
Ufa University of Science and Technology
Knight, Julia A.
Canada, Toronto
Mount Sinai Hospital of University of Toronto
Canada, Toronto
University of Toronto
Konstantopoulou, Irene
Greece, Athens
National Centre for Scientific Research Demokritos
Kraft, Peter
United States, Boston
Harvard T.h. Chan School of Public Health
Kwong, Ava
China, Hong Kong
Hong Kong Sanatorium and Hospital
Hong Kong, Hong Kong
The University of Hong Kong
Laitman, Yael
Israel, Tel Hashomer Tel Aviv
Chaim Sheba Medical Center Israel
Lambrechts, Diether
Belgium, Leuven
Ku Leuven
Lázaro, Conxi
Spain, Hospitalet de Llobregat
Institut D'investigació Biomedica de Bellvitge
Le Marchand, Loïc
United States, Honolulu
University of Hawaiʻi Cancer Center
Lee, Chuen Neng
Singapore, Singapore City
National University of Singapore
Lee, Min-hyuk
South Korea, Asan
Soonchunhyang University
Lester, Jenny
United States, Los Angeles
Cedars-sinai Medical Center
Li, Jingmei
Sweden, Stockholm
Karolinska Institutet
Liljegren, Annelie
Sweden, Stockholm
Karolinska Universitetssjukhuset
Lindblöm, Annika
Sweden, Stockholm
Karolinska Institutet
Lophatananon, Artitaya
United Kingdom, Coventry
University of Warwick
Lubiński, Jan
Poland, Szczecin
Pomeranian Medical University in Szczecin
Mai, Phuong L.
United States, Bethesda
National Institutes of Health Nih
Mannermaa, Arto Msci
Finland, Kuopio
Kuopio University Hospital
Finland, Kuopio
Itä-suomen Yliopisto
Manoukian, Siranoush
Italy, Rome
Scientific Irccs Network- Italian Ministry of Health
Margolin, Sara J.
Sweden, Stockholm
Karolinska Institutet
Marmé, Frederik
Germany, Heidelberg
Universität Heidelberg
Germany, Heidelberg
German Cancer Research Center
Matsuo, Keitaro
Japan, Fukuoka
Kyushu University, Faculty of Medical Sciences
McGuffog, Lesley
United Kingdom, Cambridge
University of Cambridge
Meindl, Alfons
Germany, Munich
Technische Universität München
Ménégaux, Florence
France, Paris
Inserm
France, Gif-sur-yvette
Université Paris-saclay
Montagna, Marco
Italy, Padua
Istituto Oncologico Veneto Iov - Irccs
Muir, Kenneth Ross
United Kingdom, Coventry
University of Warwick
United Kingdom, Manchester
The University of Manchester
Nathanson, Katherine L.
United States, Philadelphia
University of Pennsylvania Perelman School of Medicine
Floris, Giuseppe L.
United States, Duarte
City of Hope National Med Center
Nevanlinna, Heli A.
Finland, Helsinki
Helsinki University Hospital
Newcomb, Polly A.
United States, Madison
University of Wisconsin-madison
United States, Seattle
Fred Hutchinson Cancer Center
Nussbaum, Robert Luke
United States, San Francisco
University of California, San Francisco
Offit, Kenneth
United States, New York
Memorial Sloan-kettering Cancer Center
Olàh, Edith
Hungary, Budapest
Országos Onkológiai Intézet Budapest
Olopade, Olufunmilayo Ibironke
United States, Chicago
The University of Chicago Medicine
Olswold, Curtis L.
United States, Rochester
Mayo Clinic
Osorio, Ana
Spain, Madrid
Centro Nacional de Investigaciones Oncológicas
Spain, Madrid
Centro de Investigación Biomédica en Red de Enfermedades Raras
Papi, Laura
Italy, Florence
Università Degli Studi Di Firenze
Peissel, Bernard
Italy, Rome
Scientific Irccs Network- Italian Ministry of Health
Peterlongo, Paolo
Italy, Milan
Fondazione Ifom Istituto Firc Di Oncologia Molecolare
Peto, Julian
United Kingdom, London
London School of Hygiene & Tropical Medicine
Pfeiler, Georg
Austria, Vienna
Medizinische Universität Wien
Phelan, Catherine M.
United States, Tampa
Moffitt Cancer Center
Presneau, Nadège
United Kingdom, London
University of Westminster
Radice, Paolo
Italy, Rome
Scientific Irccs Network- Italian Ministry of Health
Rahman, Nazneen
United Kingdom, London
The Institute of Cancer Research
Ramus, Susan J.
United States, Los Angeles
Keck School of Medicine of Usc
Rashid, Muhammad Usman
Germany, Heidelberg
German Cancer Research Center
Pakistan, Lahore
Shaukat Khanum Memorial Cancer Hospital and Research Centre
Rennert, Gad
Israel, Haifa
Carmel Medical Center
Rhiem, Kerstin M.
Germany, Aachen
Centrum Für Integrierte Onkologie
Rudolph, Anja
Germany, Heidelberg
German Cancer Research Center
Sangrajrang, Suleeporn
Thailand
National Cancer Institute Thailand
Sawyer, Elinor J.
United Kingdom, London
King's College London
Schmidt, Marjanka K.
Netherlands, Amsterdam
The Netherlands Cancer Institute
Schmutzler, Rita Katharina
Germany, Koln
Uniklinik Köln
Germany, Aachen
Centrum Für Integrierte Onkologie
Schoemaker, Minouk J.
United Kingdom, London
The Institute of Cancer Research
Schürmann, Peter
Germany, Hannover
Hannover Medical School
Seynaeve, Caroline M.
Netherlands, Rotterdam
Erasmus Mc Cancer Institute
Shrubsole, Martha J.
United States, Nashville
Vanderbilt University School of Medicine
Shu, Xiaoou
United States, Nashville
Vanderbilt University School of Medicine
Sigurdson, Alice J.
United States, Rockville
National Cancer Institute Nci
Singer, Christian Fridolin
Austria, Vienna
Medizinische Universität Wien
Slager, Susan L.
United States, Rochester
Mayo Clinic
Soucy, Penny
Canada, Quebec
Université Laval
Southey, Melissa Caroline
Australia, Melbourne
University of Melbourne
Steinemann, Doris
Germany, Hannover
Hannover Medical School
Swerdlow, Anthony J.
United Kingdom, London
The Institute of Cancer Research
Szabo, Csilla I.
United States, Bethesda
National Institutes of Health Nih
Teixeira, Manuel Rodrigues
Portugal, Porto
Instituto Português de Oncologia do Porto fg
Portugal, Porto
Universidade do Porto
Teo, Soo Hwang
Malaysia, Subang Jaya
Cancer Reserach Initiatives Foundation, Malaysia
Malaysia, Kuala Lumpur
University of Malaya Medical Centre
Terry, Mary Beth Eth
United States, New York
Columbia University
Tessier, Daniel C.
Canada, Montreal
Université Mcgill
Thomassen, Mads Christella L.G.D.
Denmark, Odense
Odense Universitetshospital
Tihomirova, Laima P.
Latvia, Riga
Latvian Biomedical Research and Study Centre
Tischkowitz, Marc D.
Canada, Montreal
Université Mcgill
United Kingdom, Cambridge
School of Clinical Medicine
Toland, Amanda Ewart
United States, Columbus
The Ohio State University
Tung, Nadine M.
United States, Boston
Beth Israel Deaconess Medical Center
Turnbull, Clare A.
United Kingdom, London
The Institute of Cancer Research
van den Ouweland, Ans M.W.
Netherlands, Rotterdam
Erasmus Mc
van Rensburg, Elizabeth J.
South Africa, Pretoria
University of Pretoria
Wang-Gohrke, Shan
Germany, Ulm
Universität Ulm
Weitzel, Jeffrey Nelson
United States, Duarte
City of Hope National Med Center
Whittemore, Alice S.
United States, Stanford
Stanford University School of Medicine
Winqvist, Robert
Finland, Oulu
Oulun Yliopisto
Finland, Oulu
Northern Finland Laboratory Centre Nordlab
Wong, Tienyin
Singapore, Singapore City
Singapore Eye Research Institute
Wu, Anna H.
United States, Los Angeles
University of Southern California
Yannoukakos, Drakoulis
Greece, Thessaloniki
Papageorgiou General Hospital
Pharoah, Paul D.P.
United Kingdom, Cambridge
University of Cambridge
Hall, Per F.L.
Sweden, Stockholm
Karolinska Institutet
Chenevix-Trench, Georgia
Australia, Brisbane
Qimr Berghofer Medical Research Institute
Australia, Melbourne
Peter Maccallum Cancer Centre
Dunning, Alison M.
United Kingdom, Cambridge
University of Cambridge
Simard, Jacques
Canada, Quebec
Université Laval
Couch, Fergus J.
United States, Rochester
Mayo Clinic
Antoniou, Antonis C.
United Kingdom, Cambridge
University of Cambridge
Easton, Douglas F.
United Kingdom, Cambridge
University of Cambridge
Zheng, Wei
United States, Nashville
Vanderbilt University School of Medicine
Statistics
Citations: 35
Authors: 219
Affiliations: 142
Identifiers
Doi:
10.1186/s13058-016-0718-0
ISSN:
14655411
Research Areas
Cancer
Genetics And Genomics
Study Design
Case-Control Study
Study Approach
Systematic review