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Title: | Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants. | Authors: | Gesta P.;Mulligan A.M.;Nathanson K.L.;Neuhausen S.L.;Nevanlinna H.;Niederacher D.;Nielsen F.C.;Nikitina-Zake L.;Nogues C.;Olah E.;Olopade O.I.;Ong K.-R.;O'Shaughnessy-Kirwan A.;Osorio A.;Ott C.-E.;Papi L.;Park S.K.;Parsons M.T.;Pedersen I.S.;Peissel B.;Peixoto A.;Peterlongo P.;Pfeiler G.;Phillips K.-A.;Prajzendanc K.;Pujana M.A.;Radice P.;Ramser J.;Ramus S.J.;Rantala J.;Rennert G.;Risch H.A.;Robson M.;Ronlund K.;Salani R.;Schuster H.;Senter L.;Shah P.D.;Sharma P.;Side L.E.;Singer C.F.;Slavin T.P.;Soucy P.;Southey M.C.;Spurdle A.B.;Steinemann D.;Steinsnyder Z.;Stoppa-Lyonnet D.;Sutter C.;Tan Y.Y.;Teixeira M.R.;Teo S.H.;Thull D.L.;Tischkowitz M.;Tognazzo S.;Toland A.E.;Trainer A.H.;Tung N.;van Engelen K.;van Rensburg E.J.;Vega A.;Vierstraete J.;Wagner G.;Walker L.;Wang-Gohrke S.;Wappenschmidt B.;Weitzel J.N.;Yadav S.;Yang X.;Yannoukakos D.;Zimbalatti D.;Offit K.;Thomassen M.;Couch F.J.;Schmutzler R.K.;Simard J.;Easton D.F.;Antoniou A.C.;GEMO Study Collaborators;EMBRACE Collaborators;kConFab Investigators;HEBON Investigators;GENEPSO Investigators;Barnes D.R.;Rookus M.A.;McGuffog L.;Leslie G.;Mooij T.M.;Dennis J.;Mavaddat N.;Aittomaki K.;Andrulis I.L.;Arnold N.;Arun B.K.;Azzollini J.;Balmana J.;Barkardottir R.B.;Benitez J.;Bialkowska K.;Blanco A.M.;Blok M.J.;Bonanni B.;Boonen S.E.;Borg A.;Bozsik A.;Bradbury A.R.;Brunet J.;Buys S.S.;Caldes T.;Caligo M.A.;Campbell I.;Christensen L.L.;Chung W.K.;Claes K.B.M.;Berthet P.;Colas C.;Adlard J.;Ahmed M.;Antoniou A.;Barrowdale D.;Brennan P.;Brewer C.;Easton D.;Evans D.G.;Side L.;Collonge-Rame M.-A.;Cook J.;Daly M.B.;Davidson R.;de la Hoya M.;de Putter R.;Delnatte C.;Diez O.;Ding Y.C.;Domchek S.M.;Dorfling C.M.;Dumont M.;Eeles R.;Ejlertsen B.;Engel C.;Faivre L.;Foretova L.;Fostira F.;Friedlander M.;Friedman E.;Frost D.;Ganz P.A.;Garber J.;Gehrig A.;Gerdes A.-M.;Giraud S.;Glendon G.;Godwin A.K.;Goldgar D.E.;Gonzalez-Neira A.;Greene M.H.;Gschwantler-Kaulich D.;Hahnen E.;Hamann U.;Hanson H.;Hentschel J.;Hogervorst F.B.L.;Hooning M.J.;Horvath J.;Hu C.;Hulick P.J.;Imyanitov E.N.;Chenevix-Trench G.;Spurdle A.;Blok M.;Devilee P.;Hogervorst F.;Hooning M.;Mensenkamp A.;Meijers-Heijboer H.;Rookus M.;Engelen K.;Andrieu N.;Isaacs C.;Izatt L.;Izquierdo A.;Jakubowska A.;James P.A.;Janavicius R.;John E.M.;Joseph V.;Karlan B.Y.;Kast K.;Koudijs M.;Kruse T.A.;Kwong A.;Laitman Y.;Lasset C.;Lazaro C.;Lester J.;Lesueur F.;Liljegren A.;Loud J.T.;Lubinski J.;Mai P.L.;Manoukian S.;Mari V.;Mebirouk N.;Meijers-Heijboer H.E.J.;Meindl A.;Mensenkamp A.R.;Miller A.;Montagna M.;Mouret-Fourme E.;Mukherjee S. | Institution: | (Rookus, Mooij, Rookus) The Netherlands Cancer Institute, Department of Epidemiology (PSOE), Amsterdam, Netherlands (Adlard, Adlard) Chapel Allerton Hospital, Yorkshire Regional Genetics Service, Leeds, United Kingdom (Ahmed, Ahmed) Great Ormond Street Hospital for Children NHS Trust, North East Thames Regional Genetics Service, London, United Kingdom (Aittomaki) University of Helsinki, Department of Clinical Genetics, Helsinki University Hospital, Helsinki, Finland (Andrieu, Andrieu, Lesueur, Mebirouk) Inserm U900, Genetic Epidemiology of Cancer team, Paris, France (Andrieu, Andrieu, Lesueur, Mebirouk) Institut Curie, Paris, France (Andrieu, Mebirouk, Andrieu, Lesueur, Mebirouk) Mines ParisTech, Fontainebleau, France (Andrieu, Andrieu, Lesueur, Mebirouk) Department of Life & Health Sciences, PSL University, Paris, France (Andrulis, Glendon) Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Fred A. Litwin Center for Cancer Genetics, Toronto, ON, Canada (Andrulis) University of Toronto, Department of Molecular Genetics, Toronto, ON, Canada (Arnold) University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Department of Gynaecology and Obstetrics, Kiel, Germany (Arnold) University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Institute of Clinical Molecular Biology, Kiel, Germany (Arun) University of Texas MD Anderson Cancer Center, Department of Breast Medical Oncology, Houston, TX, United States (Azzollini, Manoukian, Peissel, Zimbalatti) Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Unit of Medical Genetics, Department of Medical Oncology and Hematology, Milan, Italy (Balmana) Vall d'Hebron Institute of Oncology, High Risk and Cancer Prevention Group, Barcelona, Spain (Balmana) University Hospital of Vall d'Hebron, Department of Medical Oncology, Barcelona, Spain (Barkardottir) Landspitali University Hospital, Department of Pathology, Reykjavik, Iceland (Barkardottir) University of Iceland, BMC (Biomedical Centre), Faculty of Medicine, Reykjavik, Iceland (Benitez, Osorio) Centro de Investigacion en Red de Enfermedades Raras (CIBERER), Madrid, Spain (Benitez, Gonzalez-Neira, Osorio) Spanish National Cancer Research Centre (CNIO), Human Cancer Genetics Programme, Madrid, Spain (Berthet, Berthet) Centre Francois Baclesse, Departement de Biopathologie, Caen, France (Bialkowska, Jakubowska, Lubinski, Prajzendanc) Pomeranian Medical University, Department of Genetics and Pathology, Szczecin, Poland (Blanco) University of California San Francisco, Cancer Genetics and Prevention Program, San Francisco, CA, United States (Blok, Blok) Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, Netherlands (Bonanni) IEO, European Institute of Oncology IRCCS, Division of Cancer Prevention and Genetics, Milan, Italy (Boonen) Zealand University Hospital, Clinical Genetic Unit, Department of Paediatrics, Roskilde, Denmark (Borg) Lund University, Division of Oncology and Pathology, Department of Clinical Sciences Lund, Lund, Sweden (Bozsik, Olah) National Institute of Oncology, Department of Molecular Genetics, Budapest, Hungary (Bradbury, Shah) Perelman School of Medicine at the University of Pennsylvania, Department of Medicine, Abramson Cancer Center, Philadelphia, PA, United States (Brennan, Brennan) Institute of Genetic Medicine, International Centre for Life, Northern Genetic Service, Newcastle upon Tyne, United Kingdom (Brewer, Brewer) Royal Devon & Exeter Hospital, Department of Clinical Genetics, Exeter, United Kingdom (Brunet, Izquierdo, Lazaro) ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Hereditary Cancer Program, Barcelona, Spain (Buys) Huntsman Cancer Institute, Department of Medicine, Salt Lake City, UT, United States (Caldes, de la Hoya) CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigacion Sanitaria del Hospital Clinico San Carlos), Molecular Oncology Laboratory, Madrid, Spain (Caligo) University Hospital, SOD Genetica Molecolare, Pisa, Italy (Campbell, Phillips, Phillips) Peter MacCallum Cancer Center, Melbourne, VIC, Australia (Campbell, Phillips, James, Phillips) The University of Melbourne, Sir Peter MacCallum Department of Oncology, Melbourne, VIC, Australia (Christensen) Aarhus University Hospital, Department of Clinical Medicine, Aarhus, Denmark (Chung) Columbia University, Departments of Pediatrics and Medicine, New York, NY, United States (Claes, de Putter, Vierstraete) Ghent University, Centre for Medical Genetics, Ghent, Belgium (Colas, Colas, Mouret-Fourme, Stoppa-Lyonnet, Mouret-Fourme, Stoppa-Lyonnet) Institut Curie, Service de Genetique, Paris, France (Collonge-Rame, Collonge-Rame) CHU de Besancon, Service de Genetique, Besancon, France (Delnatte, Delnatte) CHU Nantes, Laboratoire de genetique moleculaire, Nantes, France (Faivre, Hanson, Faivre) Centre Georges-Francois Leclerc, Unite d'oncogenetique, Centre de Lutte Contre le Cancer, Dijon, France (Giraud, Giraud) Hospices Civils de Lyon, Department of Genetics, Bron, France (Lasset, Lasset) Centre Leon Berard, Unite de Prevention et d'Epidemiologie Genetique, Lyon, France (Mari, Mari) Centre Antoine Lacassagne, Departement d'Hematologie-Oncologie Medicale, Nice, France (Schuster, Schuster) Unite d'Oncogenetique Centre de Lutte contre le Cancer Paul Strauss, Strasbourg, France (Cook, Cook) Sheffield Children's Hospital, Sheffield Clinical Genetics Service, Sheffield, United Kingdom (Davidson, Davidson) Queen Elizabeth University Hospitals, Department of Clinical Genetics, Glasgow, United Kingdom (Eeles, Eeles) The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, Oncogenetics Team, London, United Kingdom (Evans) The University of Manchester, Manchester Academic Health Science Centre, Manchester Universities Foundation Trust, St. Mary's Hospital, Genomic Medicine, Division of Evolution and Genomic Sciences, Manchester, United Kingdom (Evans) Manchester Academic Health Science Centre, Manchester Universities Foundation Trust, St. Mary's Hospital, Genomic Medicine, North West Genomics hub, Manchester, United Kingdom (Izatt, Izatt) Guy's and St Thomas' NHS Foundation Trust, Clinical Genetics, London, United Kingdom (Ong, Ong) Birmingham Women's Hospital Healthcare NHS Trust, West Midlands Regional Genetics Service, Birmingham, United Kingdom (Side, Side) Princess Anne Hospital, Southampton, United Kingdom (O'Shaughnessy-Kirwan, O'Shaughnessy-Kirwan) Cambridge University Hospitals NHS Foundation Trust, East Anglian Medical Genetics Service, Cambridge, United Kingdom (Tischkowitz, Tischkowitz) McGill University, Program in Cancer Genetics, Departments of Human Genetics and Oncology, Montreal, QC, Canada (Tischkowitz, Tischkowitz) University of Cambridge, Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, Cambridge, United Kingdom (Walker, Walker) Oxford University Hospitals, Oxford Centre for Genomic Medicine, Oxford, United Kingdom (Daly) Fox Chase Cancer Center, Department of Clinical Genetics, Philadelphia, PA, United States (Devilee, Devilee) Leiden University Medical Center, Department of Pathology, Leiden, Netherlands (Devilee) Leiden University Medical Center, Department of Human Genetics, Leiden, Netherlands (Diez) Vall dHebron Institute of Oncology (VHIO), Oncogenetics Group, Barcelona, Spain (Diez) University Hospital Vall dHebron, Clinical and Molecular Genetics Area, Barcelona, Spain (Ding, Neuhausen) Beckman Research Institute of City of Hope, Department of Population Sciences, Duarte, CA, United States (Domchek, Nathanson) University of Pennsylvania, Basser Center for BRCA, Abramson Cancer Center, Philadelphia, PA, United States (Dorfling, van Rensburg) University of Pretoria, Department of Genetics, Arcadia, South Africa (Dumont, Soucy, Simard) Centre Hospitalier Universitaire de Quebec - Universite Laval Research Center, Genomics Center, Quebec City, QC, Canada (Ejlertsen) Rigshospitalet, Copenhagen University Hospital, Department of Oncology, Copenhagen, Denmark (Engel) University of Leipzig, Institute for Medical Informatics, Statistics and Epidemiology, Leipzig, Germany (Faivre) DHU Dijon, Centre de Genetique, Dijon, France (Foretova) Masaryk Memorial Cancer Institute, Department of Cancer Epidemiology and Genetics, Brno, Czechia (Fostira, Yannoukakos) National Centre for Scientific Research 'Demokritos', Molecular Diagnostics Laboratory, INRASTES, Athens, Greece (Friedlander) NHMRC Clinical Trials, ANZ GOTG Coordinating Centre, Camperdown, NSW, Australia (Friedman, Laitman) Chaim Sheba Medical Center, The Susanne Levy Gertner Oncogenetics Unit, Ramat Gan, Israel (Friedman) Tel Aviv University, Sackler Faculty of Medicine, Ramat Aviv, Israel (Ganz) Jonsson Comprehensive Cancer Centre, UCLA, Schools of Medicine and Public Health, Division of Cancer Prevention & Control Research, Los Angeles, CA, United States (Garber) Dana-Farber Cancer Institute, Cancer Risk and Prevention Clinic, Boston, MA, United States (Gehrig) University Wurzburg, Department of Human Genetics, Wurzburg, Germany (Gerdes) Rigshospitalet, Copenhagen University Hospital, Department of Clinical Genetics, Copenhagen, Denmark (Gesta) CH Niort, Service Regional Oncogenetique Poitou-Charentes, Niort, France (Godwin) University of Kansas Medical Center, Department of Pathology and Laboratory Medicine, Kansas City, KS, United States (Goldgar) Huntsman Cancer Institute, University of Utah School of Medicine, Department of Dermatology, Salt Lake City, UT, United States (Greene, Loud) Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, United States (Gschwantler-Kaulich, Tan) Medical University of Vienna, Dept of OB/GYN, Vienna, Austria (Hahnen, Wappenschmidt, Schmutzler) Faculty of Medicine and University Hospital Cologne, University of Cologne, Center for Familial Breast and Ovarian Cancer, Cologne, Germany (Hahnen, Wappenschmidt, Schmutzler) Faculty of Medicine and University Hospital Cologne, University of Cologne, Center for Integrated Oncology (CIO), Cologne, Germany (Hamann) German Cancer Research Center (DKFZ), Molecular Genetics of Breast Cancer, Heidelberg, Germany (Hanson) St George's NHS Foundation Trust, Southwest Thames Regional Genetics Service, London, United Kingdom (Hentschel) University Hospital Leipzig, Institute of Human Genetics, Leipzig, Germany (Hogervorst, Hogervorst) The Netherlands Cancer Institute - Antoni van Leeuwenhoek hospital, Family Cancer Clinic, Amsterdam, Netherlands (Hooning, Hooning) Erasmus MC Cancer Institute, Department of Medical Oncology, Family Cancer Clinic, Rotterdam, Netherlands (Horvath) University of Munster, Institute of Human Genetics, Munster, Germany (Hu, Couch) Mayo Clinic, Department of Laboratory Medicine and Pathology, Rochester, MN, United States (Hulick) NorthShore University HealthSystem, Center for Medical Genetics, Evanston, IL, United States (Hulick) The University of Chicago Pritzker School of Medicine, Chicago, IL, United States (Imyanitov) N.N. Petrov Institute of Oncology, St. Petersburg, Russian Federation (Chenevix-Trench, Chenevix-Trench, Spurdle, Parsons, Spurdle) QIMR Berghofer Medical Research Institute, Department of Genetics and Computational Biology, Brisbane, QLD, Australia (Phillips, Phillips) The University of Melbourne, Department of Medicine, St Vincent's Hospital, Fitzroy, VIC, Australia (Phillips, Phillips) The University of Melbourne, Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, Melbourne, VIC, Australia (Koudijs, Koudijs) University Medical Center Utrecht, Department of Medical Genetics, Utrecht, Netherlands (Mensenkamp, Mensenkamp) Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands (Meijers-Heijboer, Meijers-Heijboer) Amsterdam UMC, location AMC, Department of Clinical Genetics, Amsterdam, Netherlands (Engelen, van Engelen) Amsterdam UMC, location VUmc, Department of Clinical Genetics, Amsterdam, Netherlands (Nogues, Nogues) Oncogenetique Clinique and Aix Marseille Univ, INSERM, IRD, SESSTIM, Institut Paoli-Calmettes, Departement d'Anticipation et de Suivi des Cancers, Marseille, France (Isaacs) Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, United States (Jakubowska) Pomeranian Medical University, Independent Laboratory of Molecular Biology and Genetic Diagnostics, Szczecin, Poland (James, Trainer) Peter MacCallum Cancer Center, Parkville Familial Cancer Centre, Melbourne, VIC, Australia (Janavicius) Vilnius University Hospital Santariskiu Clinics, Hematology, Oncology and Transfusion Medicine Center, Department of Molecular and Regenerative Medicine, Vilnius, Lithuania (Janavicius) State Research Institute Centre for Innovative Medicine, Vilnius, Lithuania (John) Stanford Cancer Institute, Stanford University School of Medicine, Department of Medicine, Division of Oncology, Stanford, CA, United States (Joseph, Offit) Memorial Sloan-Kettering Cancer Center, Clinical Genetics Research Lab, Department of Cancer Biology and Genetics, New York, NY, United States (Karlan, Lester) University of California at Los Angeles, David Geffen School of Medicine, Department of Obstetrics and Gynecology, Los Angeles, CA, United States (Karlan, Lester) Cedars-Sinai Medical Center, Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Los Angeles, CA, United States (Kast) Department of Gynecology and Obstetrics, Medical Faculty and University Hospital Carl Gustav Carus, Technische Universitat Dresden, Dresden, Germany (Kruse, Thomassen) Odense University Hospital, Department of Clinical Genetics, Odense, Denmark (Kwong) Cancer Genetics Centre, Hong Kong Hereditary Breast Cancer Family Registry, Happy Valley, Hong Kong (Kwong) The University of Hong Kong, Department of Surgery, Pok Fu Lam, Hong Kong (Kwong) Hong Kong Sanatorium and Hospital, Department of Surgery, Happy Valley, Hong Kong (Lasset) Lyon University, UMR CNRS 5558, Lyon, France (Liljegren) Karolinska Institutet, Department of Oncology, Stockholm, Sweden (Mai) Magee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, PA, United States (Meindl) University of Munich, Campus Groshadern, Department of Gynecology and Obstetrics, Munich, Germany (Miller) Roswell Park Cancer Institute, NRG Oncology, Statistics and Data Management Center, Buffalo, NY, United States (Montagna, Tognazzo) Veneto Institute of Oncology IOV - IRCCS, Immunology and Molecular Oncology Unit, Padua, Italy (Mukherjee, Robson, Steinsnyder, Offit) Memorial Sloan-Kettering Cancer Center, Clinical Genetics Service, Department of Medicine, New York, NY, United States (Mulligan) University of Toronto, Department of Laboratory Medicine and Pathobiology, Toronto, ON, Canada (Mulligan) University Health Network, Laboratory Medicine Program, Toronto, ON, Canada (Nevanlinna) University of Helsinki, Department of Obstetrics and Gynecology, Helsinki University Hospital, Helsinki, Finland (Niederacher) University Hospital Dusseldorf, Heinrich-Heine University Dusseldorf, Department of Gynecology and Obstetrics, Dusseldorf, Germany (Nielsen) Rigshospitalet, Copenhagen University Hospital, Center for Genomic Medicine, Copenhagen, Denmark (Nikitina-Zake) Latvian Biomedical Research and Study Centre, Riga, Latvia (Olopade) The University of Chicago, Center for Clinical Cancer Genetics, Chicago, IL, United States (Ott) Campus Virchov Klinikum, Charite, Institute of Human Genetics, Berlin, Germany (Papi) University of Florence, Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Medical Genetics Unit, Florence, Italy (Park) Seoul National University College of Medicine, Department of Preventive Medicine, Seoul, South Korea (Park) Seoul National University Graduate School, Department of Biomedical Sciences, Seoul, South Korea (Park) Seoul National University, Cancer Research Institute, Seoul, South Korea (Pedersen) Aalborg University Hospital, Molecular Diagnostics, Aalborg, Denmark (Pedersen) Aalborg University Hospital, Clinical Cancer Research Center, Aalborg, Denmark (Pedersen) Aalborg University, Department of Clinical Medicine, Aalborg, Denmark (Peixoto, Teixeira) Portuguese Oncology Institute, Department of Genetics, Porto, Portugal (Peterlongo) IFOM - the FIRC Institute of Molecular Oncology, Genome Diagnostics Program, Milan, Italy (Pfeiler, Singer, Wagner) Medical University of Vienna, Dept of OB/GYN and Comprehensive Cancer Center, Vienna, Austria (Pujana) IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, ProCURE, Barcelona, Spain (Radice) Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Milan, Italy (Ramser) Klinikum rechts der Isar der Technischen Universitat Munchen, Department of Gynaecology and Obstetrics, Munich, Germany (Ramus) University of NSW Sydney, School of Women's and Children's Health, Faculty of Medicine, Sydney, NSW, Australia (Ramus) The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Sydney, NSW, Australia (Ramus) University of NSW Sydney, Adult Cancer Program, Lowy Cancer Research Centre, Sydney, NSW, Australia (Rantala) Karolinska Institutet, Clinical Genetics, Stockholm, Sweden (Rennert) Carmel Medical Center and Technion Faculty of Medicine, Clalit National Cancer Control Center, Haifa, Israel (Risch) Yale School of Medicine, Chronic Disease Epidemiology, New Haven, CT, United States (Ronlund) Region of Southern Denmark, Vejle Hospital, Department of Clinical Genetics, Vejle, Denmark (Salani) Wexner Medical Center, The Ohio State University, Department of Gynecology and Obstetrics, Columbus, OH, United States (Schuster) Institut de Cancerologie Strasbourg Europe, ICANS, Strasbourg, France (Schuster) Universite de Strasbourg, Laboratoire d'ImmunoRhumatologie Moleculaire, Plateforme GENOMAX, INSERM UMR_S 1109, LabEx TRANSPLANTEX, Federation de Medecine Translationnelle de Strasbourg (FMTS), Faculte de Medecine, Strasbourg, France (Senter) The Ohio State University, Clinical Cancer Genetics Program, Division of Human Genetics, Department of Internal Medicine, The Comprehensive Cancer Center, Columbus, OH, United States (Sharma) University of Kansas Medical Center, Department of Internal Medicine, Division of Medical Oncology, Westwood, KS, United States (Slavin, Weitzel) City of Hope, Clinical Cancer Genomics, Duarte, CA, United States (Southey) Monash University, Precision Medicine, School of Clinical Sciences at Monash Health, Clayton, VIC, Australia (Southey) The University of Melbourne, Department of Clinical Pathology, Melbourne, VIC, Australia (Southey) Cancer Council Victoria, Cancer Epidemiology Division, Melbourne, VIC, Australia (Steinemann) Hannover Medical School, Institute of Human Genetics, Hannover, Germany (Stoppa-Lyonnet) INSERM U830, Department of Tumour Biology, Paris, France (Stoppa-Lyonnet) Universite Paris Descartes, Paris, France (Sutter) University Hospital Heidelberg, Institute of Human Genetics, Heidelberg, Germany (Teixeira) University of Porto, Biomedical Sciences Institute (ICBAS), Porto, Portugal (Teo) Cancer Research Malaysia, Breast Cancer Research Programme, Subang Jaya, Selangor, Malaysia (Teo) University of Malaya, Department of Surgery, Faculty of Medicine, Kuala Lumpur, Malaysia (Thull) Magee-Womens Hospital, University of Pittsburgh School of Medicine, Department of Medicine, Pittsburgh, PA, United States (Toland) The Ohio State University, Department of Cancer Biology and Genetics, Columbus, OH, United States (Trainer) University Of Melbourne, Department of Medicine, Melbourne, VIC, Australia (Tung) Beth Israel Deaconess Medical Center, Department of Medical Oncology, Boston, MA, United States (Vega) Centro de Investigacion en Red de Enfermedades Raras (CIBERER), Madrid, Spain (Vega) Fundacion Publica Galega de Medicina Xenomica, Santiago de Compostela, Spain (Vega) Instituto de Investigacion Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, Santiago de Compostela, Spain (Wang-Gohrke) University Hospital Ulm, Department of Gynaecology and Obstetrics, Ulm, Germany (Yadav) Mayo Clinic, Department of Oncology, Rochester, MN, United States (Schmutzler) Faculty of Medicine and University Hospital Cologne, University of Cologne, Center for Molecular Medicine Cologne (CMMC), Cologne, Germany (Easton, Easton) Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, United Kingdom (Barnes, McGuffog, Leslie, Dennis, Mavaddat, Barrowdale, Antoniou, Barrowdale, Easton, Frost, Frost, Yang, Easton, Antoniou) Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom | Issue Date: | 5-Jan-2021 | Copyright year: | 2020 | Publisher: | Springer Nature | Place of publication: | United States | Publication information: | Genetics in Medicine. 22 (10) (pp 1653-1666), 2020. Date of Publication: 01 Oct 2020. | Journal: | Genetics in Medicine | Abstract: | Purpose: We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks for BRCA1 and BRCA2 pathogenic variant carriers. Method(s): Retrospective cohort data on 18,935 BRCA1 and 12,339 BRCA2 female pathogenic variant carriers of European ancestry were available. Three versions of a 313 single-nucleotide polymorphism (SNP) BC PRS were evaluated based on whether they predict overall, estrogen receptor (ER)-negative, or ER-positive BC, and two PRS for overall or high-grade serous EOC. Associations were validated in a prospective cohort. Result(s): The ER-negative PRS showed the strongest association with BC risk for BRCA1 carriers (hazard ratio [HR] per standard deviation = 1.29 [95% CI 1.25-1.33], P = 3x10-72). For BRCA2, the strongest association was with overall BC PRS (HR = 1.31 [95% CI 1.27-1.36], P = 7x10-50). HR estimates decreased significantly with age and there was evidence for differences in associations by predicted variant effects on protein expression. The HR estimates were smaller than general population estimates. The high-grade serous PRS yielded the strongest associations with EOC risk for BRCA1 (HR = 1.32 [95% CI 1.25-1.40], P = 3x10-22) and BRCA2 (HR = 1.44 [95% CI 1.30-1.60], P = 4x10-12) carriers. The associations in the prospective cohort were similar. Conclusion(s): Population-based PRS are strongly associated with BC and EOC risks for BRCA1/2 carriers and predict substantial absolute risk differences for women at PRS distribution extremes.Copyright © 2020, The Author(s). | DOI: | http://monash.idm.oclc.org/login?url= http://monash.idm.oclc.org/login?url=http://dx.doi.org/10.1038/s41436-020-0862-x |
PubMed URL: | 32665703 [http://www.ncbi.nlm.nih.gov/pubmed/?term=32665703] | ISSN: | 1098-3600 | URI: | https://repository.monashhealth.org/monashhealthjspui/handle/1/26707 | Type: | Article | Subjects: | estrogen receptor/ec [Endogenous Compound] *genetic variability *genetic risk score genetic difference female estrogen receptor positive breast cancer estrogen receptor negative breast cancer disease association controlled study cohort analysis Caucasian *cancer risk *breast cancer article aged adult single nucleotide polymorphism heterozygote human major clinical study *ovary carcinoma pathogenicity population research prediction protein expression retrospective study *tumor suppressor gene BRCA1 protein/ec [Endogenous Compound] BRCA2 protein/ec [Endogenous Compound] retrospective study protein expression prediction population research pathogenicity *ovary carcinoma *tumor suppressor gene single nucleotide polymorphism *cancer risk *breast cancer Article aged adult major clinical study human heterozygote *genetic variability *genetic risk score genetic difference female estrogen receptor positive breast cancer estrogen receptor negative breast cancer disease association controlled study cohort analysis Caucasian |
Type of Clinical Study or Trial: | Observational study (cohort, case-control, cross sectional or survey) |
Appears in Collections: | Articles |
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