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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
general
Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
PLoS ONE, Volume 11, No. 7 July, Article e0158801, Year 2016
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Description
Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. We conducted fine-scale mapping at 9p22.2 to identify potential causal variants in BRCA1 and BRCA2 mutation carriers. Genotype data were available for 15,252 (2,462 ovarian cancer cases) BRCA1 and 8,211 (631 ovarian cancer cases) BRCA2 mutation carriers. Following genotype imputation, ovarian cancer associations were assessed for 4,873 and 5,020 SNPs in BRCA1 and BRCA 2 mutation carriers respectively, within a retrospective cohort analytical framework. In BRCA1 mutation carriers one set of eight correlated candidate causal variants for ovarian cancer risk modification was identified (top SNP rs10124837, HR: 0.73, 95%CI: 0.68 to 0.79, p-value 2× 10-16). These variants were located up to 20 kb upstream of BNC2. In BRCA2 mutation carriers one region, up to 45 kb upstream of BNC2, and containing 100 correlated SNPs was identified as candidate causal (top SNP rs62543585, HR: 0.69, 95%CI: 0.59 to 0.80, p-value 1.0 × 10-6). The candidate causal in BRCA1 mutation carriers did not include the strongest associated variant at this locus in the general population. In sum, we identified a set of candidate causal variants in a region that encompasses the BNC2 transcription start site. The ovarian cancer association at 9p22.2 may be mediated by different variants in BRCA1 mutation carriers and in the general population. Thus, potentially different mechanisms may underlie ovarian cancer risk for mutation carriers and the general population. © 2016 Public Library of Science. All rights reserved.
Authors & Co-Authors
Kuchenbaecker, Karoline B.
United Kingdom, Cambridge
University of Cambridge
Beesley, Jonathan
Australia, Brisbane
Qimr Berghofer Medical Research Institute
Adlard, Julian W.
United Kingdom, Leeds
Chapel Allerton Hospital
Agnarsson, Bjarni Agnar
Iceland, Reykjavik
Læknadeild Háskóla Íslands
Andrulis, Irene L.
Canada, Toronto
Mount Sinai Hospital of University of Toronto
Arun, Banu K.
United States, Houston
The University of Texas Md Anderson Cancer Center
Barjhoux, Laure
France, Lyon
Le Centre Régional de Lutte Contre le Cancer Léon Bérard
Belotti, Muriel
France, Paris
Institut Curie
Benit́ez, Javier J.
Spain, Madrid
Centro Nacional de Investigaciones Oncológicas
Berger, Andreas
Austria, Vienna
Medizinische Universität Wien
Bojesen, Anders Bo
Denmark, Vejle
Sygehus Lillebælt - Vejle
Bonanni, Bernardo
Italy, Milan
Istituto Europeo Di Oncologia
Brewer, Carole M.
United Kingdom, Exeter
Royal Devon and Exeter Hospital
Caldés, Trinidad
Spain, Madrid
Hospital Clínico San Carlos
Caligo, Maria Adelaide
Italy, Pisa
Azienda Ospedaliero Universitaria Pisana
Campbell, I. G. G.
Australia, Melbourne
Peter Maccallum Cancer Centre
Chan, Salina B.
Unknown Affiliation
Claes, Kathleen B.M.
Belgium, Ghent
Universiteit Gent
Cook, Jacqueline A.
United Kingdom, Sheffield
Sheffield Children's Hospital
Daly, Mary B.
United States, Philadelphia
Fox Chase Cancer Center
Damiola, Francesca
France, Lyon
Le Centre Régional de Lutte Contre le Cancer Léon Bérard
Davidson, Rosemarie H.
United Kingdom, Glasgow
Queen Elizabeth University Hospital, Glasgow
de Pauw, Antoine
France, Paris
Institut Curie
Delnatte, Capucine D.
France, Saint-herblain
Clcc Nantes Atlantique Centre René gauducheau
Díez, Orland
Spain, Cerdanyola Del Valles
Universitat Autònoma de Barcelona
Domchek, Susan M.
United States, Philadelphia
University of Pennsylvania Perelman School of Medicine
Dumont, Martine
Canada, Quebec
Université Laval
Durda, Katarzyna M.
Poland, Szczecin
Pomeranian Medical University in Szczecin
Dworniczak, Bernd P.
Germany, Munster
University of Münster
Easton, Douglas F.
United Kingdom, Cambridge
University of Cambridge
Eccles, Diana M.
United Kingdom, Southampton
University Hospital Southampton Nhs Foundation Trust
Eeles, Ros A.
United Kingdom, London
The Institute of Cancer Research
Ejlertsen, Bent
Denmark, Copenhagen
Copenhagen University Hospital
Ellis, Steve D.
United Kingdom, Cambridge
University of Cambridge
Evans, D. Gareth R.
United Kingdom, Manchester
Health Innovation Manchester
Feliubadaló, Lidia
Spain, Hospitalet de Llobregat
Institut D'investigació Biomedica de Bellvitge
Fostira, Florentia
Greece, Athens
National Centre for Scientific Research Demokritos
Foulkes, William D.
Canada, Montreal
Université Mcgill
Friedman, Eitan A.
Israel, Tel Hashomer Tel Aviv
Chaim Sheba Medical Center Israel
Israel, Tel Aviv-yafo
Tel Aviv University
Frost, Debra
United Kingdom, Cambridge
University of Cambridge
Ganz, Patricia A.
United States, Los Angeles
David Geffen School of Medicine at Ucla
Garber, Judy Ellen
United States, Boston
Dana-farber Cancer Institute
García-Barberán, Vanesa
Spain, Madrid
Hospital Clínico San Carlos
Gauthier-Villars, Marion
France, Paris
Institut Curie
Gehrig, Andrea E.
Germany, Wurzburg
Julius-maximilians-universität Würzburg
Gerdes, Anne Marie Axø
Denmark, Copenhagen
Rigshospitalet
Giraud, Sophie S.
France, Lyon
Chu de Lyon
Godwin, Andrew K.
United States, Kansas City
University of Kansas Medical Center
Goldgar, David E.
United States, Salt Lake City
University of Utah School of Medicine
Hansen, Thomas Van Overeem
Denmark, Copenhagen
Copenhagen University Hospital
Healey, Sue C.
Australia, Brisbane
Qimr Berghofer Medical Research Institute
Hodgson, Shirley Victoria
United Kingdom, London
St George’s, University of London
Hogervorst, Frans B.L.
Netherlands, Amsterdam
The Netherlands Cancer Institute
Houdayer, Claude
France, Paris
Institut Curie
Hulick, Peter J.
United States, Chicago
Pritzker School of Medicine
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
Izatt, Louise
United Kingdom, London
Guy's and st Thomas' Nhs Foundation Trust
Izquierdo, Ángel J.
Spain, Salt
Institut D'investigació Biomèdica de Girona Dr. Josep Trueta
Jakubowska, Anna
Poland, Szczecin
Pomeranian Medical University in Szczecin
Janavičius, Ramūnas
Lithuania, Vilnius
Vilniaus Universitetas
Jaworska-Bieniek, Katarzyna
Poland, Szczecin
Pomeranian Medical University in Szczecin
John, Esther M.
United States, Fremont
Cancer Prevention Institute of California
Karlan, Beth Y.
United States, Los Angeles
Cedars-sinai Medical Center
Kast, Karin
Germany, Dresden
Technische Universität Dresden
Kwong, Ava
China, Hong Kong
Hong Kong Sanatorium and Hospital
Laitman, Yael
Israel, Tel Hashomer Tel Aviv
Chaim Sheba Medical Center Israel
Lester, Jenny
United States, Los Angeles
Cedars-sinai Medical Center
Lesueur, Fabienne El Khoury
France, Paris
Mines Paris - Psl
Liljegren, Annelie
Sweden, Stockholm
Karolinska Universitetssjukhuset
Lubinski, Jan A.
Poland, Szczecin
Pomeranian Medical University in Szczecin
Mai, Phuong L.
United States, Bethesda
National Institutes of Health Nih
Manoukian, Siranoush
Italy, Milan
Fondazione Irccs Istituto Nazionale Dei Tumori, Milan
Mazoyer, Sylvie
France, Lyon
Le Centre Régional de Lutte Contre le Cancer Léon Bérard
Meindl, Alfons
Germany, Munich
Technische Universität München
Mensenkamp, Arjen R.
Netherlands, Nijmegen
Radboud University Medical Center
Montagna, Marco
Italy, Padua
Istituto Oncologico Veneto Iov - Irccs
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
Niederacher, Dieter
Germany, Dusseldorf
Heinrich-heine-universität Düsseldorf
Oláh, Edith
Hungary, Budapest
Országos Onkológiai Intézet Budapest
Olopade, Olufunmilayo Ibironke
United States, Chicago
The University of Chicago Medicine
Ong, Kairen
United Kingdom, Birmingham
Birmingham Women’s and Children’s Nhs Foundation Trust
Osorio, Ana
Spain, Madrid
Centro Nacional de Investigaciones Oncológicas
Park, Suekyung
South Korea, Seoul
Seoul National University College of Medicine
Pedersen, Inge Søkilde
Denmark, Aalborg
Aalborg Universitetshospital
Pfeiler, Georg
Austria, Vienna
Medizinische Universität Wien
Phelan, Catherine M.
United States, Tampa
Moffitt Cancer Center
Piedmonte, Marion R.
United States, Buffalo
Roswell Park Cancer Institute
Poppe, Bruce
Belgium, Ghent
Universiteit Gent
Pujana, Miguel Àngel G.
Spain, Hospitalet de Llobregat
Institut D'investigació Biomedica de Bellvitge
Radice, Paolo
Italy, Milan
Fondazione Irccs Istituto Nazionale Dei Tumori, Milan
Rennert, Gad
Israel, Haifa
Carmel Medical Center
Rodríguez, Gustavo C.
United States, Chicago
The University of Chicago
Rookus, Matti A.
Netherlands, Amsterdam
The Netherlands Cancer Institute
Ross, Eric A.
United States, Philadelphia
Fox Chase Cancer Center
Schmutzler, Rita Katharina
Germany, Koln
Uniklinik Köln
Simard, Jacques
Canada, Quebec
Université Laval
Singer, Christian Fridolin
Austria, Vienna
Medizinische Universität Wien
Soucy, Penny
Canada, Quebec
Université Laval
Southey, Melissa Caroline
Australia, Melbourne
University of Melbourne
Steinemann, Doris
Germany, Hannover
Hannover Medical School
Stoppa-Lyonnet, Dominique
France, Paris
Institut Curie
Sukiennicki, Grzegorz Mariusz
Poland, Szczecin
Pomeranian Medical University in Szczecin
Sutter, Christian
Germany, Heidelberg
Universitätsklinikum Heidelberg
Szabo, Csilla I.
United States, Bethesda
National Institutes of Health Nih
Teixeira, Manuel Rodrigues
Portugal, Porto
Instituto Português de Oncologia do Porto fg
Teo, Soo Hwang
Malaysia, Subang Jaya
Cancer Reserach Initiatives Foundation, Malaysia
Thomassen, Mads Christella L.G.D.
Denmark, Odense
Odense Universitetshospital
Tibiletti, Maria Grazia
Italy, Varese
Azienda Ospedaliera Ospedale Di Circolo e Fondazione Macchi Di Varese
Tihomirova, Laima P.
Latvia, Riga
Latvian Biomedical Research and Study Centre
van Rensburg, Elizabeth J.
South Africa, Pretoria
University of Pretoria
Varesco, Liliana
Italy, Genoa
Irccs San Martino Polyclinic Hospital
Varon-Mateeva, Raymonda
Germany, Berlin
Charité – Universitätsmedizin Berlin
Vratimos, Athanassios P.
Greece, Athens
National Centre for Scientific Research Demokritos
Weitzel, Jeffrey Nelson
United States, Duarte
City of Hope National Med Center
McGuffog, Lesley
United Kingdom, Cambridge
University of Cambridge
Toland, Amanda Ewart
United States, Columbus
The Ohio State University
Hamann, Ute
Germany, Heidelberg
German Cancer Research Center
Lindor, Noralane M.
United States, Scottsdale
Mayo Clinic Scottsdale-phoenix, Arizona
Ramus, Susan J.
United States, Los Angeles
University of Southern California
Greene, Mark H.
United States, Bethesda
National Institutes of Health Nih
Couch, Fergus J.
United States, Rochester
Mayo Clinic
Offit, Kenneth
United States, New York
Memorial Sloan-kettering Cancer Center
Pharoah, Paul D.P.
United Kingdom, Cambridge
University of Cambridge
Chenevix-Trench, Georgia
Australia, Brisbane
Qimr Berghofer Medical Research Institute
Antoniou, Antonis C.
United Kingdom, Cambridge
University of Cambridge
Statistics
Citations: 9
Authors: 128
Affiliations: 97
Identifiers
Doi:
10.1371/JOURNAL.PONE.0158801
ISSN:
19326203
Research Areas
Cancer
Genetics And Genomics
Study Design
Cross Sectional Study
Cohort Study