A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.

Radice P.; Romero A.; Rossing M.; Saloustros E.; Sandler D.P.; Santella R.; Scheuner M.T.; Schmidt M.K.; Schmidt G.; Scott C.; Sharma P.; Soucy P.; Southey M.C.; Spinelli J.J.; Steinsnyder Z.; Stone J.; Stoppa-Lyonnet D.; Swerdlow A.; Tamimi R.M.; Tapper W.J.; Taylor J.A.; Terry M.B.; Teule A.; Thull D.L.; Tischkowitz M.; Toland A.E.; Torres D.; Trainer A.H.; Truong T.; Tung N.; Vachon C.M.; Vega A.; Vijai J.; Wang Q.; Wappenschmidt B.; Weinberg C.R.; Weitzel J.N.; Wendt C.; Wolk A.; Yadav S.; Yang X.R.; Yannoukakos D.; Zheng W.; Ziogas A.; Zorn K.K.; Park S.K.; Thomassen M.; Offit K.; Schmutzler R.K.; Couch F.J.; Simard J.; Chenevix-Trench G.; Easton D.F.; Andrieu N.; Antoniou A.C.; Coignard J.; Lush M.; Beesley J.; O'Mara T.A.; Dennis J.; Tyrer J.P.; Barnes D.R.; McGuffog L.; Leslie G.; Bolla M.K.; Agata S.; Ahearn T.; Aittomaki K.; Andrulis I.L.; Anton-Culver H.; Arndt V.; Arnold N.; Aronson K.J.; Arun B.K.; Augustinsson A.; Azzollini J.; Barrowdale D.; Baynes C.; Becher H.; Bermisheva M.; Bernstein L.; Bialkowska K.; Blomqvist C.; Bojesen S.E.; Bonanni B.; Borg A.; Brauch H.; Brenner H.; Burwinkel B.; Buys S.S.; Caldes T.; Caligo M.A.; Campa D.; Carter B.D.; Castelao J.E.; Chang-Claude J.; Chanock S.J.; Chung W.K.; Claes K.B.M.; Clarke C.L.; Bertrand O.; Caputo S.; Dupre A.; Le Mentec M.; Belotti M.; Birot A.-M.; Buecher B.; Fourme E.; Gauthier-Villars M.; Golmard L.; Houdayer C.; Moncoutier V.; de Pauw A.; Saule C.; Sinilnikova O.; Mazoyer S.; Damiola F.; Barjhoux L.; Verny-Pierre C.; Leone M.; Boutry-Kryza N.; Calender A.; Giraud S.; Caron O.; Guillaud-Bataille M.; Bressac-de-Paillerets B.; Bignon Y.-J.; Uhrhammer N.; Lasset C.; Bonadona V.; Berthet P.; Vaur D.; Castera L.; Popovici C.; Sobol H.; Bourdon V.; Noguchi T.; Remenieras A.; Nogues C.; Coupier I.; Pujol P.; Dumont A.; Revillion F.; Adenis C.; Muller D.; Barouk-Simonet E.; Bonnet F.; Bubien V.; Sevenet N.; Longy M.; Toulas C.; Guimbaud R.; Gladieff L.; Feillel V.; Leroux D.; Dreyfus H.; Rebischung C.; Peysselon M.; Coron F.; Faivre L.; Baurand A.; Jacquot C.; Bertolone G.; Lizard S.; Prieur F.; Lebrun M.; Kientz C.; Ferrer S.F.; Mari V.; Venat-Bouvet L.; Delnatte C.; Bezieau S.; Mortemousque I.; Coulet F.; Colas C.; Soubrier F.; Warcoin M.; Sokolowska J.; Bronner M.; Collonge-Rame M.-A.; Damette A.; Gesta P.; Lallaoui H.; Chiesa J.; Molina-Gomes D.; Ingster O.; Gregory H.; Miedzybrodzka Z.; Morrison P.J.; Ong K.-R.; Donaldson A.; Rogers M.T.; Kennedy M.J.; Porteous M.E.; Brewer C.; Davidson R.; Izatt L.; Brady A.; Barwell J.; Adlard J.; Foo C.; Lalloo F.; Side L.E.; Eason J.; Henderson A.; Walker L.; Eeles R.A.; Cook J.; Snape K.; Eccles D.; Murray A.; McCann E.; Conroy D.M.; Czene K.; Daly M.B.; Devilee P.; Diez O.; Ding Y.C.; Domchek S.M.; Dork T.; dos-Santos-Silva I.; Dunning A.M.; Dwek M.; Eccles D.M.; Eliassen A.H.; Engel C.; Eriksson M.; Evans D.G.; Fasching P.A.; Flyger H.; Fostira F.; Friedman E.; Fritschi L.; Frost D.; Gago-Dominguez M.; Gapstur S.M.; Garber J.; Garcia-Barberan V.; Garcia-Closas M.; Garcia-Saenz J.A.; Gaudet M.M.; Gayther S.A.; Gehrig A.; Georgoulias V.; Giles G.G.; Godwin A.K.; Goldberg M.S.; Goldgar D.E.; Gonzalez-Neira A.; Greene M.H.; Guenel P.; Haeberle L.; Hahnen E.; Haiman C.A.; Hakansson N.; Hall P.; Hamann U.; Harrington P.A.; Hart S.N.; He W.; Hogervorst F.B.L.; Hollestelle A.; Hopper J.L.; Horcasitas D.J.; Hulick P.J.; Hunter D.J.; Imyanitov E.N.; Fox S.; Campbell I.; Spurdle A.; Webb P.; de Fazio A.; Tassell M.; Kirk J.; Lindeman G.; Price M.; Southey M.; Milne R.L.; Deb S.; Bowtell D.; van der Hout A.H.; van den Ouweland A.M.W.; Mensenkamp A.R.; van Deurzen C.H.M.; Kets C.M.; Seynaeve C.; van Asperen C.J.; Aalfs C.M.; Gomez Garcia E.B.; van Leeuwen F.E.; de Bock G.H.; Meijers-Heijboer H.E.J.; Obdeijn I.M.; Collee J.M.; Gille J.J.P.; Oosterwijk J.C.; Wijnen J.T.; van der Kolk L.E.; Hooning M.J.; Ausems M.G.E.M.; Mourits M.J.E.; Blok M.J.; Rookus M.A.; Adank M.A.; van der Luijt R.B.; van Cronenburg T.C.T.E.F.; van der Pol C.C.; Russell N.S.; Siesling S.; Overbeek L.; Wijnands R.; de Lange J.L.; Clarke C.; Graham D.; Sachchithananthan M.; Marsh D.; Scott R.; Baxter R.; Yip D.; Carpenter J.; Davis A.; Pathmanathan N.; Simpson P.; Jager A.; Jakubowska A.; James P.A.; Jensen U.B.; John E.M.; Jones M.E.; Kaaks R.; Kapoor P.M.; Karlan B.Y.; Keeman R.; Khusnutdinova E.; Kiiski J.I.; Ko Y.-D.; Kosma V.-M.; Kraft P.; Kurian A.W.; Laitman Y.; Lambrechts D.; Le Marchand L.; Lester J.; Lesueur F.; Lindstrom T.; Lopez-Fernandez A.; Loud J.T.; Luccarini C.; Mannermaa A.; Manoukian S.; Margolin S.; Martens J.W.M.; Mebirouk N.; Meindl A.; Miller A.; Montagna M.; Nathanson K.L.; Neuhausen S.L.; Nevanlinna H.; Nielsen F.C.; O'Brien K.M.; Olopade O.I.; Olson J.E.; Olsson H.; Osorio A.; Ottini L.; Park-Simon T.-W.; Parsons M.T.; Pedersen I.S.; Peshkin B.; Peterlongo P.; Peto J.; Pharoah P.D.P.; Phillips K.-A.; Polley E.C.; Poppe B.; Presneau N.; Pujana M.A.; Punie K.; Rantala J.; Rashid M.U.; Rennert G.; Rennert H.S.; Robson M.

Please use this identifier to cite or link to this item: https://repository.monashhealth.org/monashhealthjspui/handle/1/26724

Title:	A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.
Authors:	Radice P.;Romero A.;Rossing M.;Saloustros E.;Sandler D.P.;Santella R.;Scheuner M.T.;Schmidt M.K.;Schmidt G.;Scott C.;Sharma P.;Soucy P.;Southey M.C.;Spinelli J.J.;Steinsnyder Z.;Stone J.;Stoppa-Lyonnet D.;Swerdlow A.;Tamimi R.M.;Tapper W.J.;Taylor J.A.;Terry M.B.;Teule A.;Thull D.L.;Tischkowitz M.;Toland A.E.;Torres D.;Trainer A.H.;Truong T.;Tung N.;Vachon C.M.;Vega A.;Vijai J.;Wang Q.;Wappenschmidt B.;Weinberg C.R.;Weitzel J.N.;Wendt C.;Wolk A.;Yadav S.;Yang X.R.;Yannoukakos D.;Zheng W.;Ziogas A.;Zorn K.K.;Park S.K.;Thomassen M.;Offit K.;Schmutzler R.K.;Couch F.J.;Simard J.;Chenevix-Trench G.;Easton D.F.;Andrieu N.;Antoniou A.C.;Coignard J.;Lush M.;Beesley J.;O'Mara T.A.;Dennis J.;Tyrer J.P.;Barnes D.R.;McGuffog L.;Leslie G.;Bolla M.K.;Agata S.;Ahearn T.;Aittomaki K.;Andrulis I.L.;Anton-Culver H.;Arndt V.;Arnold N.;Aronson K.J.;Arun B.K.;Augustinsson A.;Azzollini J.;Barrowdale D.;Baynes C.;Becher H.;Bermisheva M.;Bernstein L.;Bialkowska K.;Blomqvist C.;Bojesen S.E.;Bonanni B.;Borg A.;Brauch H.;Brenner H.;Burwinkel B.;Buys S.S.;Caldes T.;Caligo M.A.;Campa D.;Carter B.D.;Castelao J.E.;Chang-Claude J.;Chanock S.J.;Chung W.K.;Claes K.B.M.;Clarke C.L.;Bertrand O.;Caputo S.;Dupre A.;Le Mentec M.;Belotti M.;Birot A.-M.;Buecher B.;Fourme E.;Gauthier-Villars M.;Golmard L.;Houdayer C.;Moncoutier V.;de Pauw A.;Saule C.;Sinilnikova O.;Mazoyer S.;Damiola F.;Barjhoux L.;Verny-Pierre C.;Leone M.;Boutry-Kryza N.;Calender A.;Giraud S.;Caron O.;Guillaud-Bataille M.;Bressac-de-Paillerets B.;Bignon Y.-J.;Uhrhammer N.;Lasset C.;Bonadona V.;Berthet P.;Vaur D.;Castera L.;Popovici C.;Sobol H.;Bourdon V.;Noguchi T.;Remenieras A.;Nogues C.;Coupier I.;Pujol P.;Dumont A.;Revillion F.;Adenis C.;Muller D.;Barouk-Simonet E.;Bonnet F.;Bubien V.;Sevenet N.;Longy M.;Toulas C.;Guimbaud R.;Gladieff L.;Feillel V.;Leroux D.;Dreyfus H.;Rebischung C.;Peysselon M.;Coron F.;Faivre L.;Baurand A.;Jacquot C.;Bertolone G.;Lizard S.;Prieur F.;Lebrun M.;Kientz C.;Ferrer S.F.;Mari V.;Venat-Bouvet L.;Delnatte C.;Bezieau S.;Mortemousque I.;Coulet F.;Colas C.;Soubrier F.;Warcoin M.;Sokolowska J.;Bronner M.;Collonge-Rame M.-A.;Damette A.;Gesta P.;Lallaoui H.;Chiesa J.;Molina-Gomes D.;Ingster O.;Gregory H.;Miedzybrodzka Z.;Morrison P.J.;Ong K.-R.;Donaldson A.;Rogers M.T.;Kennedy M.J.;Porteous M.E.;Brewer C.;Davidson R.;Izatt L.;Brady A.;Barwell J.;Adlard J.;Foo C.;Lalloo F.;Side L.E.;Eason J.;Henderson A.;Walker L.;Eeles R.A.;Cook J.;Snape K.;Eccles D.;Murray A.;McCann E.;Conroy D.M.;Czene K.;Daly M.B.;Devilee P.;Diez O.;Ding Y.C.;Domchek S.M.;Dork T.;dos-Santos-Silva I.;Dunning A.M.;Dwek M.;Eccles D.M.;Eliassen A.H.;Engel C.;Eriksson M.;Evans D.G.;Fasching P.A.;Flyger H.;Fostira F.;Friedman E.;Fritschi L.;Frost D.;Gago-Dominguez M.;Gapstur S.M.;Garber J.;Garcia-Barberan V.;Garcia-Closas M.;Garcia-Saenz J.A.;Gaudet M.M.;Gayther S.A.;Gehrig A.;Georgoulias V.;Giles G.G.;Godwin A.K.;Goldberg M.S.;Goldgar D.E.;Gonzalez-Neira A.;Greene M.H.;Guenel P.;Haeberle L.;Hahnen E.;Haiman C.A.;Hakansson N.;Hall P.;Hamann U.;Harrington P.A.;Hart S.N.;He W.;Hogervorst F.B.L.;Hollestelle A.;Hopper J.L.;Horcasitas D.J.;Hulick P.J.;Hunter D.J.;Imyanitov E.N.;Fox S.;Campbell I.;Spurdle A.;Webb P.;de Fazio A.;Tassell M.;Kirk J.;Lindeman G.;Price M.;Southey M.;Milne R.L.;Deb S.;Bowtell D.;van der Hout A.H.;van den Ouweland A.M.W.;Mensenkamp A.R.;van Deurzen C.H.M.;Kets C.M.;Seynaeve C.;van Asperen C.J.;Aalfs C.M.;Gomez Garcia E.B.;van Leeuwen F.E.;de Bock G.H.;Meijers-Heijboer H.E.J.;Obdeijn I.M.;Collee J.M.;Gille J.J.P.;Oosterwijk J.C.;Wijnen J.T.;van der Kolk L.E.;Hooning M.J.;Ausems M.G.E.M.;Mourits M.J.E.;Blok M.J.;Rookus M.A.;Adank M.A.;van der Luijt R.B.;van Cronenburg T.C.T.E.F.;van der Pol C.C.;Russell N.S.;Siesling S.;Overbeek L.;Wijnands R.;de Lange J.L.;Clarke C.;Graham D.;Sachchithananthan M.;Marsh D.;Scott R.;Baxter R.;Yip D.;Carpenter J.;Davis A. ;Pathmanathan N.;Simpson P.;Jager A.;Jakubowska A.;James P.A.;Jensen U.B.;John E.M.;Jones M.E.;Kaaks R.;Kapoor P.M.;Karlan B.Y.;Keeman R.;Khusnutdinova E.;Kiiski J.I.;Ko Y.-D.;Kosma V.-M.;Kraft P.;Kurian A.W.;Laitman Y.;Lambrechts D.;Le Marchand L.;Lester J.;Lesueur F.;Lindstrom T.;Lopez-Fernandez A.;Loud J.T.;Luccarini C.;Mannermaa A.;Manoukian S.;Margolin S.;Martens J.W.M.;Mebirouk N.;Meindl A.;Miller A.;Montagna M.;Nathanson K.L.;Neuhausen S.L.;Nevanlinna H.;Nielsen F.C.;O'Brien K.M.;Olopade O.I.;Olson J.E.;Olsson H.;Osorio A.;Ottini L.;Park-Simon T.-W.;Parsons M.T.;Pedersen I.S.;Peshkin B.;Peterlongo P.;Peto J.;Pharoah P.D.P.;Phillips K.-A.;Polley E.C.;Poppe B.;Presneau N.;Pujana M.A.;Punie K.;Rantala J.;Rashid M.U.;Rennert G.;Rennert H.S.;Robson M.
Institution:	(Coignard, Lesueur, Mebirouk, Andrieu) Genetic Epidemiology of Cancer team, Inserm, U900, Paris, France (Coignard, Lesueur, Mebirouk, Andrieu) Institut Curie Paris, Paris, France (Coignard, Lesueur, Mebirouk, Andrieu) Mines ParisTech Fontainebleau, Paris, France (Coignard, Lush, Dennis, Barnes, McGuffog, Leslie, Bolla, Barrowdale, Frost, Pharoah, Wang, Easton, Antoniou) Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom (Coignard, Lesueur, Mebirouk, Andrieu) PSL University Paris, Paris, France (Coignard) Paris Sud University, Orsay, France (Beesley, O'Mara, Spurdle, Webb, Parsons, Phillips, Chenevix-Trench) Department of Genetics and Computational Biology QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia (Tyrer, Baynes, Conroy, Dunning, Harrington, Luccarini, Pharoah, Easton) Centre for Cancer Genetic Epidemiology, Department of Oncology University of Cambridge, Cambridge, United Kingdom (Adank, Hogervorst, van der Kolk) Family Cancer Clinic, The Netherlands Cancer Institute, Antoni van Leeuwenhoek hospital, Amsterdam, Netherlands (Agata, Montagna) Immunology and Molecular Oncology, Unit Veneto Institute of Oncology IOV - IRCCS, Padua, Italy (Ahearn, Chanock, Garcia-Closas, Yang) Division of Cancer Epidemiology and Genetics National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, United States (Aittomaki) Department of Clinical Genetics, Helsinki University Hospital University of Helsinki, Helsinki, Finland (Andrulis) Fred A. Litwin Center for Cancer Genetics Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada (Andrulis) Department of Molecular Genetics University of Toronto, Toronto, ON, Canada (Anton-Culver, Ziogas, Simard) Department of Epidemiology, Genetic Epidemiology Research Institute University of California Irvine, Irvine, CA, United States (Arndt, Brenner) Division of Clinical Epidemiology and Aging Research German Cancer Research Center (DKFZ), Heidelberg, Germany (Arnold) Department of Gynaecology and Obstetrics University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany (Arnold) Institute of Clinical Molecular Biology University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany (Aronson) Department of Public Health Sciences, and Cancer Research Institute Queen's University, Kingston, ON, Canada (Arun) Department of Breast Medical Oncology University of Texas MD Anderson Cancer Center, Houston, TX, United States (Augustinsson, Olsson) Department of Cancer Epidemiology, Clinical Sciences Lund University, Lund 22242, Sweden (Azzollini, Manoukian) Unit of Medical Genetics, Department of Medical Oncology and Hematology Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy (Becher) Institute for Medical Biometrics and Epidemiology University Medical Center Hamburg-Eppendorf, Hamburg, Germany (Bermisheva, Khusnutdinova) Institute of Biochemistry and Genetics Ufa Federal Research Centre of the Russian Academy of Sciences, Ufa, Russian Federation (Bernstein, Ding, Neuhausen) Department of Population Sciences Beckman Research Institute of City of Hope, Duarte, CA, United States (Bialkowska, Jakubowska) Department of Genetics and Pathology Pomeranian Medical University Szczecin, Szczecin, Poland (Blomqvist) Department of Oncology, Helsinki University Hospital University of Helsinki, Helsinki, Finland (Blomqvist) Department of Oncology Orebro University Hospital, Orebro, Sweden (Bojesen) Copenhagen General Population Study, Herlev and Gentofte Hospital Copenhagen University Hospital, Herlev, Denmark (Bojesen) Department of Clinical Biochemistry, Herlev and Gentofte Hospital Copenhagen University Hospital, Herlev, Denmark (Bojesen) Faculty of Health and Medical Sciences University of Copenhagen, Copenhagen, Denmark (Bonanni) Division of Cancer Prevention and Genetics IEO, European Institute of Oncology IRCCS, Milan, Italy (Borg) Department of Oncology Lund University and Skane University Hospital, Lund, Sweden (Brauch) Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany (Brauch) iFIT-Cluster of Excellence University of Tubingen, Tubingen, Germany (Brauch, Brenner) Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Heidelberg, Germany (Brenner) German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany (Burwinkel) Molecular Epidemiology Group, C080 German Cancer Research Center (DKFZ), Heidelberg, Germany (Burwinkel) Molecular Biology of Breast Cancer, University Womens Clinic Heidelberg University of Heidelberg, Heidelberg, Germany (Buys) Department of Medicine Huntsman Cancer Institute, Salt Lake City, UT, United States (Caldes) Molecular Oncology Laboratory CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigacion Sanitaria del Hospital Clinico San Carlos), Madrid, Spain (Caligo) SOD Genetica Molecolare University Hospital, Pisa, Italy (Campa) Department of Biology University of Pisa, Pisa, Italy (Campa, Chang-Claude, Kaaks, Kapoor) Division of Cancer Epidemiology German Cancer Research Center (DKFZ), Heidelberg, Germany (Carter, Gapstur, Gaudet) Behavioral and Epidemiology Research Group American Cancer Society Atlanta, Atlanta, GA, United States (Castelao) Oncology and Genetics Unit Instituto de Investigacion Sanitaria Galicia Sur (IISGS), Xerencia de Xestion Integrada de Vigo-SERGAS, Vigo, Spain (Chang-Claude) Cancer Epidemiology Group, University Cancer Center Hamburg (UCCH) University Medical Center Hamburg-Eppendorf, Hamburg, Germany (Chung) Departments of Pediatrics and Medicine, Columbia University, New York, NY, United States (Claes, Poppe) Centre for Medical Genetics Ghent University, Gent, Belgium (Clarke, Clarke, Graham, Sachchithananthan) Westmead Institute for Medical Research University of Sydney, Sydney, NSW, Australia (Collee) Department of Clinical Genetics Erasmus University Medical Center, Rotterdam, Netherlands (Czene, Eriksson, Hall, He) Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden (Daly) Department of Clinical Genetics Fox Chase Cancer Center Philadelphia, Philadelphia, PA, United States (Devilee) Department of Pathology Leiden University Medical Center, Leiden, Netherlands (Devilee, Wijnen) Department of Human Genetics Leiden University Medical Center, Leiden, Netherlands (Diez) Oncogenetics Group Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain (Diez) Clinical and Molecular Genetics Area University Hospital Vall d'Hebron, Barcelona, Spain (Domchek, Nathanson) Basser Center for BRCA, Abramson Cancer Center University of Pennsylvania, Philadelphia, PA, United States (Dork, Park-Simon) Gynaecology Research Unit, Hannover Medical School, Hannover, Germany (dos-Santos-Silva, Peto) Department of Non-Communicable Disease Epidemiology London School of Hygiene and Tropical Medicine, London, United Kingdom (Dwek, Presneau) School of Life Sciences University of Westminster, London, United Kingdom (Eccles, Eccles, Tapper) Faculty of Medicine University of Southampton, Southampton, United Kingdom (Eliassen, Tamimi) Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States (Eliassen, Hunter, Kraft, Tamimi) Department of Epidemiology Harvard TH Chan School of Public Health, Boston, MA, United States (Engel) Institute for Medical Informatics, Statistics and Epidemiology University of Leipzig, Leipzig, Germany (Evans) Genomic Medicine, Division of Evolution and Genomic Sciences The University of Manchester, Manchester Academic Health Science Centre, Manchester Universities Foundation Trust, St Mary's Hospital, Manchester, United Kingdom (Evans) Genomic Medicine, North West Genomics hub Manchester Academic Health Science Centre, Manchester Universities Foundation Trust, St Mary's Hospital, Manchester, United Kingdom (Fasching) David Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology University of California at Los Angeles, Los Angeles, CA, United States (Fasching) Department of Gynecology and Obstetrics, Comprehensive Cancer Center ER-EMN University Hospital Erlangen, Friedrich-Alexander-University, Erlangen-Nuremberg, Erlangen, Germany (Flyger) Department of Breast Surgery, Herlev and Gentofte Hospital Copenhagen University Hospital, Herlev, Denmark (Fostira, Yannoukakos) Molecular Diagnostics Laboratory, INRASTES National Centre for Scientific Research iDemokritosi, Athens, Greece (Friedman, Laitman) The Susanne Levy Gertner Oncogenetics Unit Chaim Sheba Medical Center, Ramat Gan, Israel (Friedman) Sackler Faculty of Medicine Tel Aviv University, Ramat Aviv, Israel (Fritschi) School of Public Health Curtin University, Perth, WA, Australia (Gago-Dominguez) Genomic Medicine Group, Galician Foundation of Genomic Medicine Instituto de Investigacion Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, Santiago de Compostela, Spain (Gago-Dominguez) Moores Cancer Center University of California, San Diego La Jolla, CA, United States (Garber) Division of Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, MA, United States (Garcia-Barberan, Garcia-Saenz) Medical Oncology Department, Hospital Clinico San Carlos Instituto de Investigacion Sanitaria San Carlos (IdISSC), Centro Investigacion Biomedica en Red de Cancer (CIBERONC), Madrid, Spain (Gayther) Center for Bioinformatics and Functional Genomics and the Cedars Sinai Genomics Core Cedars-Sinai Medical Center, Los Angeles, CA, United States (Gehrig) Department of Human Genetics University Wurzburg, Wurzburg, Germany (Georgoulias) Department of Medical Oncology University Hospital of Heraklion, Heraklion, Greece (Giles, Milne) Cancer Epidemiology Division Cancer Council Victoria, Melbourne, VIC, Australia (Giles, Hopper, Milne, Phillips, Stone) Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC, Australia (Giles, Southey, Milne, Southey) Precision Medicine, School of Clinical Sciences at Monash Health Monash University, Clayton, VIC, Australia (Godwin) Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, KS, United States (Goldberg) Department of Medicine, McGill University, Montreal, QC, Canada (Goldberg) Division of Clinical Epidemiology, Royal Victoria Hospital McGill University Montreal, Montreal, QC, Canada (Goldgar) Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine, Salt Lake City, UT, United States (Gonzalez-Neira, Osorio) Human Cancer Genetics Programme Spanish National Cancer Research Centre (CNIO), Madrid, Spain (Greene, Loud) Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics National Cancer Institute, Bethesda, MD, United States (Guenel, Truong) Cancer & Environment Group, Center for Research in Epidemiology and Population Health (CESP) INSERM, University Paris-Sud, University Paris-Saclay, Villejuif, France (Haeberle) Department of Gynaecology and Obstetrics, University Hospital Erlangen Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany (Hahnen, Wappenschmidt, Schmutzler) Center for Hereditary Breast and Ovarian Cancer Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (Hahnen, Wappenschmidt, Schmutzler) Center for Integrated Oncology (CIO) Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (Haiman) Department of Preventive Medicine, Keck School of Medicine University of Southern California, Los Angeles, CA, United States (Wolk) Institute of Environmental Medicine Karolinska Institutet, Stockholm, Sweden (Hakansson, Hall, Margolin) Department of Oncology, Sodersjukhuset, Stockholm, Sweden (Hamann, Rashid, Torres) Molecular Genetics of Breast Cancer German Cancer Research Center (DKFZ), Heidelberg, Germany (Hart, Lindstrom, Olson, Polley, Scott) Department of Health Sciences Research, Mayo Clinic, Rochester, MN, United States (Hollestelle, Seynaeve, Hooning, Jager, Martens) Department of Medical Oncology, Family Cancer Clinic Erasmus MC Cancer Institute, Rotterdam, Netherlands (Horcasitas) New Mexico Oncology Hematology Consultants, University of New Mexico, Albuquerque, NM, United States (Hulick) Center for Medical Genetics NorthShore University HealthSystem, Evanston, IL, United States (Hulick) The University of Chicago Pritzker School of Medicine Chicago, Chicago, IL, United States (Hunter, Kraft, Tamimi) Program in Genetic Epidemiology and Statistical Genetics Harvard TH Chan School of Public Health Boston, Boston, MA, United States (Hunter) Nuffield Department of Population Health University of Oxford, Oxford, United Kingdom (Imyanitov) NN Petrov Institute of Oncology, St. Petersburg, Russian Federation (Jakubowska) Independent Laboratory of Molecular Biology and Genetic Diagnostics Pomeranian Medical University, Szczecin, Poland (James, Phillips) Sir Peter MacCallum Department of Oncology The University of Melbourne, Melbourne, VIC, Australia (James, Trainer) Parkville Familial Cancer Centre Peter MacCallum Cancer Center, Melbourne, VIC, Australia (Jensen) Department of Clinical Genetics Aarhus, University Hospital, Aarhus, Denmark (John, Kurian) Department of Medicine, Division of Oncology, Stanford University School of Medicine, Stanford, CA, United States (John, Jones, Kurian, Swerdlow) Department of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, United States (Kapoor) Division of Genetics and Epidemiology The Institute of Cancer Research, London, United Kingdom (Karlan, Lester) Faculty of Medicine University of Heidelberg, Heidelberg, Germany (Karlan, Lester) David Geffen School of Medicine, Department of Obstetrics and Gynecology University of California at Los Angeles, Los Angeles, CA, United States (Keeman, Schmidt) Womenis Cancer Program at the Samuel Oschin Comprehensive Cancer Institute Cedars-Sinai Medical Center, Los Angeles, CA, United States (Khusnutdinova) Division of Molecular Pathology The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, Amsterdam, Netherlands (Kiiski, Nevanlinna) Department of Genetics and Fundamental Medicine Bashkir State Medical University, Ufa, Russian Federation (Ko) Department of Obstetrics and Gynecology, Helsinki University Hospital University of Helsinki, Helsinki, Finland (Kosma, Mannermaa) Department of Internal Medicine, Evangelische Kliniken Bonn gGmbH Johanniter Krankenhaus, Bonn, Germany (Kosma, Mannermaa) Translational Cancer Research Area University of Eastern Finland, Kuopio, Finland (Kosma, Mannermaa) Institute of Clinical Medicine, Pathology and Forensic Medicine University of Eastern Finland, Kuopio, Finland (Lambrechts) VIB Center for Cancer Biology, Leuven, Belgium (Lambrechts) Laboratory for Translational Genetics, Department of Human Genetics University of Leuven, Leuven, Belgium (Le Marchand) Epidemiology Program University of Hawaii Cancer Center, Honolulu, HI, United States (Lopez-Fernandez) High Risk and Cancer Prevention Group Vall d'Hebron Institute of Oncology, Barcelona, Spain (Margolin, Wendt) Department of Clinical Science and Education, Sodersjukhuset Karolinska Institutet, Stockholm, Sweden (Meindl) Department of Gynecology and Obstetrics University of Munich, Campus Grosshadern, Munich, Germany (Miller) NRG Oncology, Statistics and Data Management Center Roswell Park Cancer Institute, Buffalo, NY, United States (Nielsen, Rossing) Center for Genomic Medicine Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark (O'Brien, Sandler, Taylor) Epidemiology Branch National Institute of Environmental Health Sciences, NIH Research Triangle Park, Durham, NC, United States (Olopade) Center for Clinical Cancer Genetics The University of Chicago, Chicago, IL, United States (Osorio) Centro de Investigacion en Red de Enfermedades Raras (CIBERER), Madrid, Spain (Ottini) Department of Molecular Medicine University La Sapienza, Rome, Italy (Pedersen) Molecular Diagnostics Aalborg University Hospital, Aalborg, Denmark (Pedersen) Clinical Cancer Research Center Aalborg University Hospital, Aalborg, Denmark (Pedersen) Department of Clinical Medicine Aalborg University, Aalborg, Denmark (Peshkin) Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, United States (Peterlongo) Genome Diagnostics Program IFOM - the FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, Milan, Italy (Pujana) Translational Research Laboratory IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, CIBERONC, Barcelona, Spain (Punie) Leuven Multidisciplinary Breast Center, Department of Oncology Leuven Cancer Institute, University Hospitals Leuven, Leuven, Belgium (Radice) Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy (Rantala) Clinical Genetics Karolinska Institutet, Stockholm, Sweden (Rashid) Department of Basic Sciences Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH & RC), Lahore, Pakistan (Rennert, Rennert) Clalit National Cancer Control Center Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel (Robson, Vijai, Offit) Clinical Genetics Service, Department of Medicine Memorial Sloan-Kettering Cancer Center, New York, NY, United States (Romero) Medical Oncology Department Hospital Universitario Puerta de Hierro, Madrid, Spain (Saloustros) Department of Oncology University Hospital of Larissa, Larissa, Greece (Santella, Terry) Department of Epidemiology, Mailman School of Public Health Columbia University, New York, NY, United States (Scheuner) Cancer Genetics and Prevention Program University of California San Francisco, San Francisco, CA, United States (Schmidt) Division of Psychosocial Research and Epidemiology The Netherlands Cancer Institute - Antoni van Leeuwenhoek hospital, Amsterdam, Netherlands (Schmidt) Institute of Human Genetics Hannover Medical School, Hannover, Germany (Sharma) Department of Internal Medicine, Division of Medical Oncology University of Kansas Medical Center, Westwood, KS, United States (Soucy) Genomics Center, Centre Hospitalier Universitaire de Quebec - Universite Laval Research Center, Quebec City, QC, Canada (Southey, Southey) Department of Clinical Pathology The University of Melbourne, Melbourne, VIC, Australia (Spinelli) Population Oncology BC Cancer, Vancouver, BC, Canada (Spinelli) School of Population and Public Health University of British Columbia, Vancouver, BC, Canada (Steinsnyder, Vijai, Offit) Clinical Genetics Research Lab, Department of Cancer Biology and Genetics Memorial Sloan-Kettering Cancer Center, New York, NY, United States (Stone) The Curtin UWA Centre for Genetic Origins of Health and Disease Curtin University and University of Western Australia, Perth, WA, Australia (Bertrand, Caputo, Dupre, Le Mentec, Stoppa-Lyonnet) Service de Genetique Institut Curie, Paris, France (Belotti, Birot, Buecher, Fourme, Gauthier-Villars, Golmard, Houdayer, Moncoutier, de Pauw, Saule, Stoppa-Lyonnet) Department of Tumour Biology INSERM U830, Paris, France (Stoppa-Lyonnet) Universite Paris Descartes, Paris, France (Swerdlow) Division of Breast Cancer Research Institute of Cancer Research, London, United Kingdom (Taylor) Epigenetic and Stem Cell Biology Laboratory National Institute of Environmental Health Sciences, NIH Research Triangle Park, Triangle Park, NC, United States (Teule) Hereditary Cancer Program ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain (Thull) Department of Medicine Magee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, PA, United States (Tischkowitz) Program in Cancer Genetics, Departments of Human Genetics and Oncology McGill University, Montreal, QC, Canada (Tischkowitz) Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Center, University of Cambridge, Cambridge, United Kingdom (Toland) Department of Cancer Biology and Genetics The Ohio State University, Columbus, OH, United States (Torres) Institute of Human Genetics Pontificia Universidad Javeriana, Bogota, Colombia (Trainer) Department of medicine University Of Melbourne, Melbourne, VIC, Australia (Tung) Department of Medical Oncology Beth Israel Deaconess Medical Center, Boston, MA, United States (Vachon) Department of Health Science Research, Division of Epidemiology Mayo Clinic, Rochester, MN, United States (Vega) Fundacion Publica Galega Medicina Xenomica-SERGAS, Instituto de Investigacion Sanitaria Santiago de Compostela (IDIS); CIBERER, Santiago de Compostela, Spain (Weinberg) Biostatistics and Computational Biology Branch National Institute of Environmental Health Sciences, NIH Research Triangle Park, Triangle Park, NC, United States (Weitzel) Clinical Cancer Genomics City of Hope, Duarte, CA, United States (Wolk) Department of Surgical Sciences Uppsala University, Uppsala, Sweden (Yadav) Department of Oncology Mayo Clinic, Rochester, MN, United States (Zheng) Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center Vanderbilt University School of Medicine, Nashville, TN, United States (Zorn) Magee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, PA, United States (Park) Department of Preventive Medicine Seoul National University College of Medicine, Seoul, South Korea (Park) Department of Biomedical Sciences Seoul National University Graduate School, Seoul, South Korea (Park) Cancer Research Institute Seoul National University, Seoul, South Korea (Thomassen) Department of Clinical Genetics Odense University Hospital, Odence C, Denmark (Couch) Department of Laboratory Medicine and Pathology Mayo Clinic, Rochester, MN, United States (Sinilnikova, Mazoyer, Damiola, Barjhoux, Verny-Pierre, Leone, Boutry-Kryza, Calender, Giraud) Unite Mixte de Genetique Constitutionnelle des Cancers Frequents, Hospices Civils de Lyon - Centre Leon Berard, Lyon, France (Caron, Guillaud-Bataille, Bressac-de-Paillerets) Institut Gustave Roussy, Villejuif, France (Bignon, Uhrhammer) Centre Jean Perrin, Clermont-Ferrand, France (Lasset, Bonadona) Centre Leon Berard, Lyon, France (Berthet, Vaur, Castera) Centre Francois Baclesse, Caen, France (Noguchi, Popovici, Sobol, Bourdon, Noguchi, Remenieras, Nogues) Institut Paoli Calmettes, Marseille, France (Coupier, Pujol) CHU Arnaud-de-Villeneuve, Montpellier, France (Dumont, Revillion, Adenis) Centre Oscar Lambret, Lille, France (Muller) Centre Paul Strauss, Strasbourg, France (Barouk-Simonet, Bonnet, Bubien, Sevenet, Longy) Institut Bergonie, Bordeaux, France (Toulas, Guimbaud, Gladieff, Feillel) Institut Claudius Regaud, Toulouse, France (Leroux, Dreyfus, Rebischung, Peysselon) CHU, Grenoble, France (Coron, Faivre, Baurand, Jacquot, Bertolone, Lizard) CHU, Dijon, France (Prieur, Lebrun, Kientz) CHU, St-Etienne, France (Ferrer) Hotel Dieu Centre Hospitalier, Chambery, France (Mari) Centre Antoine Lacassagne, Nice, France (Venat-Bouvet) CHU, Limoges, France (Delnatte, Bezieau) CHU, Nantes, France (Mortemousque) CHU Bretonneau, Tours, France (Mortemousque) Centre Hospitalier de, Bourges, France (Coulet, Colas, Soubrier, Warcoin) Groupe Hospitalier Pitie- Salpetriere, Paris, France (Sokolowska, Bronner) CHU Vandoeuvre-, les-Nancy, France (Collonge-Rame, Damette) CHU, Besancon, France (Gesta) CHU Poitiers, Centre Hospitalier d'Angouleme, Poitiers, France (Gesta) Centre Hospitalier de Niort, Niort, France (Lallaoui) Centre Hospitalier de La Rochelle, La Rochelle, France (Chiesa) CHU Nimes Caremeau, Nimes, France (Molina-Gomes) CHU, Poissy, France (Ingster) CHU, Angers, France (Gregory, Miedzybrodzka) North of Scotland Regional Genetics Service, NHS Grampian & University of Aberdeen, Foresterhill, Aberdeen, United Kingdom (Morrison) Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, and Department of Medical Genetics, Queens University Belfast, Belfast, United Kingdom (Ong) West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Edgbaston, Birmingham, United Kingdom (Donaldson) Clinical Genetics Department, St Michael's Hospital, Bristol, United Kingdom (Rogers) All Wales Medical Genetics Services, University Hospital of Wales, Cardiff, United Kingdom (Kennedy) Academic Unit of Clinical and Molecular Oncology, Trinity College Dublin and St James's Hospital, Dublin, Ireland (Porteous) South East of Scotland Regional Genetics Service, Western General Hospital, Edinburgh, United Kingdom (Brewer) Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, United Kingdom (Davidson) Clinical Genetics, Southern General Hospital, Glasgow, United Kingdom (Izatt) Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom (Brady) North West Thames Regional Genetics Service, Kennedy-Galton Centre, Harrow, 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Groningen, Groningen, Netherlands (van den Ouweland, Collee) Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, Netherlands (Mensenkamp, Kets) Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands (van Deurzen) Department of Pathology, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, Netherlands (van Asperen, Wijnen, van Cronenburg) Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands (Aalfs) Department of Clinical Genetics, Academic Medical Center, Amsterdam, Netherlands (Gomez Garcia) Department of Clinical Genetics, MUMC, Maastricht, Netherlands (van Leeuwen, Rookus, Wijnands, de Lange) Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, Netherlands (de Bock) Department of Oncological Epidemiology, University Medical Center, Groningen University, Groningen, Netherlands (Meijers-Heijboer, Gille, Adank) Department of Clinical Genetics, VU University Medical Centre, Amsterdam, Netherlands (Obdeijn) Department of Radiology, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, Netherlands (Ausems, van der Luijt) Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands (Mourits) Department of Gynaecological Oncology, University Medical Center, Groningen University, Groningen, Netherlands (Blok) Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands (van der Pol) Department of Oncological and Endocrine Surgery, University Medical Center Utrecht, Utrecht, Netherlands (Russell) Department of Radiotherapy, Netherlands Cancer Institute, Amsterdam, Netherlands (Siesling) The Netherlands Comprehensive Cancer Organization (IKNL), Utrecht, Netherlands (Overbeek) Foundation PALGA (The Nationwide Network and Registry of Histo- and Cytopathology in the Netherlands), Houten, Netherlands (Marsh) University of Technology Sydney, Translational Oncology Group, School of Life Sciences, Faculty of Science, Ultimo, NSW, Australia (Scott) School of Biomedical Sciences, University of Newcastle, Newcastle; Hunter Medical Research Institute and NSW Health Pathology North, Newcastle, Australia (Baxter) Kolling Institute of Medical Research, University of Sydney, St Leonards, NSW, Australia (Yip) Department of Medical Oncology, The Canberra Hospital, Canberra, ACT, Australia (Carpenter) Scientific Platforms, The Westmead Institute for Medical Research, The University of Sydney, Sydney, NSW, Australia (Davis) The Canberra Hospital, Garran, ACT; The Australian National University, Canberra, ACT, Australia (Pathmanathan) Westmead Breast Cancer Institute, Western Sydney Local Health District, Westmead, New South Wales, Australia (Pathmanathan) University of Sydney, Western Clinical School, Westmead, New South Wales, Australia (Simpson) UQ Centre for Clinical Research, Faculty of Medicine, The University of Queensland, Herston, QLD, Australia
Issue Date:	1-Mar-2021
Copyright year:	2021
Publisher:	Nature Research
Place of publication:	United Kingdom
Publication information:	Nature Communications. 12 (1) (no pagination), 2021. Article Number: 1078. Date of Publication: December 2021.
Journal:	Nature Communications
Abstract:	Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10-8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers.Copyright © 2021, The Author(s).
DOI:	http://monash.idm.oclc.org/login?url= http://monash.idm.oclc.org/login?url=http://dx.doi.org/10.1038/s41467-020-20496-3
PubMed URL:	33597508 [http://www.ncbi.nlm.nih.gov/pubmed/?term=33597508]
ISSN:	2041-1723 (electronic)
URI:	https://repository.monashhealth.org/monashhealthjspui/handle/1/26724
Type:	Article
Appears in Collections:	Articles

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