Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.

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 mut...

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Main Authors: Elena Vigorito, Karoline B Kuchenbaecker, Jonathan Beesley, Julian Adlard, Bjarni A Agnarsson, Irene L Andrulis, Banu K Arun, Laure Barjhoux, Muriel Belotti, Javier Benitez, Andreas Berger, Anders Bojesen, Bernardo Bonanni, Carole Brewer, Trinidad Caldes, Maria A Caligo, Ian Campbell, Salina B Chan, Kathleen B M Claes, David E Cohn, Jackie Cook, Mary B Daly, Francesca Damiola, Rosemarie Davidson, Antoine de Pauw, Capucine Delnatte, Orland Diez, Susan M Domchek, Martine Dumont, Katarzyna Durda, Bernd Dworniczak, Douglas F Easton, Diana Eccles, Christina Edwinsdotter Ardnor, Ros Eeles, Bent Ejlertsen, Steve Ellis, D Gareth Evans, Lidia Feliubadalo, Florentia Fostira, William D Foulkes, Eitan Friedman, Debra Frost, Pragna Gaddam, Patricia A Ganz, Judy Garber, Vanesa Garcia-Barberan, Marion Gauthier-Villars, Andrea Gehrig, Anne-Marie Gerdes, Sophie Giraud, Andrew K Godwin, David E Goldgar, Christopher R Hake, Thomas V O Hansen, Sue Healey, Shirley Hodgson, Frans B L Hogervorst, Claude Houdayer, Peter J Hulick, Evgeny N Imyanitov, Claudine Isaacs, Louise Izatt, Angel Izquierdo, Lauren Jacobs, Anna Jakubowska, Ramunas Janavicius, Katarzyna Jaworska-Bieniek, Uffe Birk Jensen, Esther M John, Joseph Vijai, Beth Y Karlan, Karin Kast, KConFab Investigators, Sofia Khan, Ava Kwong, Yael Laitman, Jenny Lester, Fabienne Lesueur, Annelie Liljegren, Jan Lubinski, Phuong L Mai, Siranoush Manoukian, Sylvie Mazoyer, Alfons Meindl, Arjen R Mensenkamp, Marco Montagna, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Dieter Niederacher, Edith Olah, Olufunmilayo I Olopade, Kai-Ren Ong, Ana Osorio, Sue Kyung Park, Ylva Paulsson-Karlsson, Inge Sokilde Pedersen, Bernard Peissel, Paolo Peterlongo, Georg Pfeiler, Catherine M Phelan, Marion Piedmonte, Bruce Poppe, Miquel Angel Pujana, Paolo Radice, Gad Rennert, Gustavo C Rodriguez, Matti A Rookus, Eric A Ross, Rita Katharina Schmutzler, Jacques Simard, Christian F Singer, Thomas P Slavin, Penny Soucy, Melissa Southey, Doris Steinemann, Dominique Stoppa-Lyonnet, Grzegorz Sukiennicki, Christian Sutter, Csilla I Szabo, Muy-Kheng Tea, Manuel R Teixeira, Soo-Hwang Teo, Mary Beth Terry, Mads Thomassen, Maria Grazia Tibiletti, Laima Tihomirova, Silvia Tognazzo, Elizabeth J van Rensburg, Liliana Varesco, Raymonda Varon-Mateeva, Athanassios Vratimos, Jeffrey N Weitzel, Lesley McGuffog, Judy Kirk, Amanda Ewart Toland, Ute Hamann, Noralane Lindor, Susan J Ramus, Mark H Greene, Fergus J Couch, Kenneth Offit, Paul D P Pharoah, Georgia Chenevix-Trench, Antonis C Antoniou
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-01-01
Series:PLoS ONE
Online Access:https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0158801&type=printable
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author Elena Vigorito
Karoline B Kuchenbaecker
Jonathan Beesley
Julian Adlard
Bjarni A Agnarsson
Irene L Andrulis
Banu K Arun
Laure Barjhoux
Muriel Belotti
Javier Benitez
Andreas Berger
Anders Bojesen
Bernardo Bonanni
Carole Brewer
Trinidad Caldes
Maria A Caligo
Ian Campbell
Salina B Chan
Kathleen B M Claes
David E Cohn
Jackie Cook
Mary B Daly
Francesca Damiola
Rosemarie Davidson
Antoine de Pauw
Capucine Delnatte
Orland Diez
Susan M Domchek
Martine Dumont
Katarzyna Durda
Bernd Dworniczak
Douglas F Easton
Diana Eccles
Christina Edwinsdotter Ardnor
Ros Eeles
Bent Ejlertsen
Steve Ellis
D Gareth Evans
Lidia Feliubadalo
Florentia Fostira
William D Foulkes
Eitan Friedman
Debra Frost
Pragna Gaddam
Patricia A Ganz
Judy Garber
Vanesa Garcia-Barberan
Marion Gauthier-Villars
Andrea Gehrig
Anne-Marie Gerdes
Sophie Giraud
Andrew K Godwin
David E Goldgar
Christopher R Hake
Thomas V O Hansen
Sue Healey
Shirley Hodgson
Frans B L Hogervorst
Claude Houdayer
Peter J Hulick
Evgeny N Imyanitov
Claudine Isaacs
Louise Izatt
Angel Izquierdo
Lauren Jacobs
Anna Jakubowska
Ramunas Janavicius
Katarzyna Jaworska-Bieniek
Uffe Birk Jensen
Esther M John
Joseph Vijai
Beth Y Karlan
Karin Kast
KConFab Investigators
Sofia Khan
Ava Kwong
Yael Laitman
Jenny Lester
Fabienne Lesueur
Annelie Liljegren
Jan Lubinski
Phuong L Mai
Siranoush Manoukian
Sylvie Mazoyer
Alfons Meindl
Arjen R Mensenkamp
Marco Montagna
Katherine L Nathanson
Susan L Neuhausen
Heli Nevanlinna
Dieter Niederacher
Edith Olah
Olufunmilayo I Olopade
Kai-Ren Ong
Ana Osorio
Sue Kyung Park
Ylva Paulsson-Karlsson
Inge Sokilde Pedersen
Bernard Peissel
Paolo Peterlongo
Georg Pfeiler
Catherine M Phelan
Marion Piedmonte
Bruce Poppe
Miquel Angel Pujana
Paolo Radice
Gad Rennert
Gustavo C Rodriguez
Matti A Rookus
Eric A Ross
Rita Katharina Schmutzler
Jacques Simard
Christian F Singer
Thomas P Slavin
Penny Soucy
Melissa Southey
Doris Steinemann
Dominique Stoppa-Lyonnet
Grzegorz Sukiennicki
Christian Sutter
Csilla I Szabo
Muy-Kheng Tea
Manuel R Teixeira
Soo-Hwang Teo
Mary Beth Terry
Mads Thomassen
Maria Grazia Tibiletti
Laima Tihomirova
Silvia Tognazzo
Elizabeth J van Rensburg
Liliana Varesco
Raymonda Varon-Mateeva
Athanassios Vratimos
Jeffrey N Weitzel
Lesley McGuffog
Judy Kirk
Amanda Ewart Toland
Ute Hamann
Noralane Lindor
Susan J Ramus
Mark H Greene
Fergus J Couch
Kenneth Offit
Paul D P Pharoah
Georgia Chenevix-Trench
Antonis C Antoniou
author_facet Elena Vigorito
Karoline B Kuchenbaecker
Jonathan Beesley
Julian Adlard
Bjarni A Agnarsson
Irene L Andrulis
Banu K Arun
Laure Barjhoux
Muriel Belotti
Javier Benitez
Andreas Berger
Anders Bojesen
Bernardo Bonanni
Carole Brewer
Trinidad Caldes
Maria A Caligo
Ian Campbell
Salina B Chan
Kathleen B M Claes
David E Cohn
Jackie Cook
Mary B Daly
Francesca Damiola
Rosemarie Davidson
Antoine de Pauw
Capucine Delnatte
Orland Diez
Susan M Domchek
Martine Dumont
Katarzyna Durda
Bernd Dworniczak
Douglas F Easton
Diana Eccles
Christina Edwinsdotter Ardnor
Ros Eeles
Bent Ejlertsen
Steve Ellis
D Gareth Evans
Lidia Feliubadalo
Florentia Fostira
William D Foulkes
Eitan Friedman
Debra Frost
Pragna Gaddam
Patricia A Ganz
Judy Garber
Vanesa Garcia-Barberan
Marion Gauthier-Villars
Andrea Gehrig
Anne-Marie Gerdes
Sophie Giraud
Andrew K Godwin
David E Goldgar
Christopher R Hake
Thomas V O Hansen
Sue Healey
Shirley Hodgson
Frans B L Hogervorst
Claude Houdayer
Peter J Hulick
Evgeny N Imyanitov
Claudine Isaacs
Louise Izatt
Angel Izquierdo
Lauren Jacobs
Anna Jakubowska
Ramunas Janavicius
Katarzyna Jaworska-Bieniek
Uffe Birk Jensen
Esther M John
Joseph Vijai
Beth Y Karlan
Karin Kast
KConFab Investigators
Sofia Khan
Ava Kwong
Yael Laitman
Jenny Lester
Fabienne Lesueur
Annelie Liljegren
Jan Lubinski
Phuong L Mai
Siranoush Manoukian
Sylvie Mazoyer
Alfons Meindl
Arjen R Mensenkamp
Marco Montagna
Katherine L Nathanson
Susan L Neuhausen
Heli Nevanlinna
Dieter Niederacher
Edith Olah
Olufunmilayo I Olopade
Kai-Ren Ong
Ana Osorio
Sue Kyung Park
Ylva Paulsson-Karlsson
Inge Sokilde Pedersen
Bernard Peissel
Paolo Peterlongo
Georg Pfeiler
Catherine M Phelan
Marion Piedmonte
Bruce Poppe
Miquel Angel Pujana
Paolo Radice
Gad Rennert
Gustavo C Rodriguez
Matti A Rookus
Eric A Ross
Rita Katharina Schmutzler
Jacques Simard
Christian F Singer
Thomas P Slavin
Penny Soucy
Melissa Southey
Doris Steinemann
Dominique Stoppa-Lyonnet
Grzegorz Sukiennicki
Christian Sutter
Csilla I Szabo
Muy-Kheng Tea
Manuel R Teixeira
Soo-Hwang Teo
Mary Beth Terry
Mads Thomassen
Maria Grazia Tibiletti
Laima Tihomirova
Silvia Tognazzo
Elizabeth J van Rensburg
Liliana Varesco
Raymonda Varon-Mateeva
Athanassios Vratimos
Jeffrey N Weitzel
Lesley McGuffog
Judy Kirk
Amanda Ewart Toland
Ute Hamann
Noralane Lindor
Susan J Ramus
Mark H Greene
Fergus J Couch
Kenneth Offit
Paul D P Pharoah
Georgia Chenevix-Trench
Antonis C Antoniou
author_sort Elena Vigorito
collection DOAJ
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.
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spelling doaj-art-3218667a15f94b26bb725ac2e8a2bbda2025-08-20T02:31:58ZengPublic Library of Science (PLoS)PLoS ONE1932-62032016-01-01117e015880110.1371/journal.pone.0158801Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.Elena VigoritoKaroline B KuchenbaeckerJonathan BeesleyJulian AdlardBjarni A AgnarssonIrene L AndrulisBanu K ArunLaure BarjhouxMuriel BelottiJavier BenitezAndreas BergerAnders BojesenBernardo BonanniCarole BrewerTrinidad CaldesMaria A CaligoIan CampbellSalina B ChanKathleen B M ClaesDavid E CohnJackie CookMary B DalyFrancesca DamiolaRosemarie DavidsonAntoine de PauwCapucine DelnatteOrland DiezSusan M DomchekMartine DumontKatarzyna DurdaBernd DworniczakDouglas F EastonDiana EcclesChristina Edwinsdotter ArdnorRos EelesBent EjlertsenSteve EllisD Gareth EvansLidia FeliubadaloFlorentia FostiraWilliam D FoulkesEitan FriedmanDebra FrostPragna GaddamPatricia A GanzJudy GarberVanesa Garcia-BarberanMarion Gauthier-VillarsAndrea GehrigAnne-Marie GerdesSophie GiraudAndrew K GodwinDavid E GoldgarChristopher R HakeThomas V O HansenSue HealeyShirley HodgsonFrans B L HogervorstClaude HoudayerPeter J HulickEvgeny N ImyanitovClaudine IsaacsLouise IzattAngel IzquierdoLauren JacobsAnna JakubowskaRamunas JanaviciusKatarzyna Jaworska-BieniekUffe Birk JensenEsther M JohnJoseph VijaiBeth Y KarlanKarin KastKConFab InvestigatorsSofia KhanAva KwongYael LaitmanJenny LesterFabienne LesueurAnnelie LiljegrenJan LubinskiPhuong L MaiSiranoush ManoukianSylvie MazoyerAlfons MeindlArjen R MensenkampMarco MontagnaKatherine L NathansonSusan L NeuhausenHeli NevanlinnaDieter NiederacherEdith OlahOlufunmilayo I OlopadeKai-Ren OngAna OsorioSue Kyung ParkYlva Paulsson-KarlssonInge Sokilde PedersenBernard PeisselPaolo PeterlongoGeorg PfeilerCatherine M PhelanMarion PiedmonteBruce PoppeMiquel Angel PujanaPaolo RadiceGad RennertGustavo C RodriguezMatti A RookusEric A RossRita Katharina SchmutzlerJacques SimardChristian F SingerThomas P SlavinPenny SoucyMelissa SoutheyDoris SteinemannDominique Stoppa-LyonnetGrzegorz SukiennickiChristian SutterCsilla I SzaboMuy-Kheng TeaManuel R TeixeiraSoo-Hwang TeoMary Beth TerryMads ThomassenMaria Grazia TibilettiLaima TihomirovaSilvia TognazzoElizabeth J van RensburgLiliana VarescoRaymonda Varon-MateevaAthanassios VratimosJeffrey N WeitzelLesley McGuffogJudy KirkAmanda Ewart TolandUte HamannNoralane LindorSusan J RamusMark H GreeneFergus J CouchKenneth OffitPaul D P PharoahGeorgia Chenevix-TrenchAntonis C AntoniouPopulation-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.https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0158801&type=printable
spellingShingle Elena Vigorito
Karoline B Kuchenbaecker
Jonathan Beesley
Julian Adlard
Bjarni A Agnarsson
Irene L Andrulis
Banu K Arun
Laure Barjhoux
Muriel Belotti
Javier Benitez
Andreas Berger
Anders Bojesen
Bernardo Bonanni
Carole Brewer
Trinidad Caldes
Maria A Caligo
Ian Campbell
Salina B Chan
Kathleen B M Claes
David E Cohn
Jackie Cook
Mary B Daly
Francesca Damiola
Rosemarie Davidson
Antoine de Pauw
Capucine Delnatte
Orland Diez
Susan M Domchek
Martine Dumont
Katarzyna Durda
Bernd Dworniczak
Douglas F Easton
Diana Eccles
Christina Edwinsdotter Ardnor
Ros Eeles
Bent Ejlertsen
Steve Ellis
D Gareth Evans
Lidia Feliubadalo
Florentia Fostira
William D Foulkes
Eitan Friedman
Debra Frost
Pragna Gaddam
Patricia A Ganz
Judy Garber
Vanesa Garcia-Barberan
Marion Gauthier-Villars
Andrea Gehrig
Anne-Marie Gerdes
Sophie Giraud
Andrew K Godwin
David E Goldgar
Christopher R Hake
Thomas V O Hansen
Sue Healey
Shirley Hodgson
Frans B L Hogervorst
Claude Houdayer
Peter J Hulick
Evgeny N Imyanitov
Claudine Isaacs
Louise Izatt
Angel Izquierdo
Lauren Jacobs
Anna Jakubowska
Ramunas Janavicius
Katarzyna Jaworska-Bieniek
Uffe Birk Jensen
Esther M John
Joseph Vijai
Beth Y Karlan
Karin Kast
KConFab Investigators
Sofia Khan
Ava Kwong
Yael Laitman
Jenny Lester
Fabienne Lesueur
Annelie Liljegren
Jan Lubinski
Phuong L Mai
Siranoush Manoukian
Sylvie Mazoyer
Alfons Meindl
Arjen R Mensenkamp
Marco Montagna
Katherine L Nathanson
Susan L Neuhausen
Heli Nevanlinna
Dieter Niederacher
Edith Olah
Olufunmilayo I Olopade
Kai-Ren Ong
Ana Osorio
Sue Kyung Park
Ylva Paulsson-Karlsson
Inge Sokilde Pedersen
Bernard Peissel
Paolo Peterlongo
Georg Pfeiler
Catherine M Phelan
Marion Piedmonte
Bruce Poppe
Miquel Angel Pujana
Paolo Radice
Gad Rennert
Gustavo C Rodriguez
Matti A Rookus
Eric A Ross
Rita Katharina Schmutzler
Jacques Simard
Christian F Singer
Thomas P Slavin
Penny Soucy
Melissa Southey
Doris Steinemann
Dominique Stoppa-Lyonnet
Grzegorz Sukiennicki
Christian Sutter
Csilla I Szabo
Muy-Kheng Tea
Manuel R Teixeira
Soo-Hwang Teo
Mary Beth Terry
Mads Thomassen
Maria Grazia Tibiletti
Laima Tihomirova
Silvia Tognazzo
Elizabeth J van Rensburg
Liliana Varesco
Raymonda Varon-Mateeva
Athanassios Vratimos
Jeffrey N Weitzel
Lesley McGuffog
Judy Kirk
Amanda Ewart Toland
Ute Hamann
Noralane Lindor
Susan J Ramus
Mark H Greene
Fergus J Couch
Kenneth Offit
Paul D P Pharoah
Georgia Chenevix-Trench
Antonis C Antoniou
Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
PLoS ONE
title Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
title_full Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
title_fullStr Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
title_full_unstemmed Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
title_short Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
title_sort fine scale mapping at 9p22 2 identifies candidate causal variants that modify ovarian cancer risk in brca1 and brca2 mutation carriers
url https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0158801&type=printable
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AT utehamann finescalemappingat9p222identifiescandidatecausalvariantsthatmodifyovariancancerriskinbrca1andbrca2mutationcarriers
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