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Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Authors :
Daniel R. Barnes
Matti A. Rookus
Lesley McGuffog
Goska Leslie
Thea M. Mooij
Joe Dennis
Nasim Mavaddat
Julian Adlard
Munaza Ahmed
Kristiina Aittomäki
Nadine Andrieu
Irene L. Andrulis
Norbert Arnold
Banu K. Arun
Jacopo Azzollini
Judith Balmaña
Rosa B. Barkardottir
Daniel Barrowdale
Javier Benitez
Pascaline Berthet
Katarzyna Białkowska
Amie M. Blanco
Marinus J. Blok
Bernardo Bonanni
Susanne E. Boonen
Åke Borg
Aniko Bozsik
Angela R. Bradbury
Paul Brennan
Carole Brewer
Joan Brunet
Saundra S. Buys
Trinidad Caldés
Maria A. Caligo
Ian Campbell
Lise Lotte Christensen
Wendy K. Chung
Kathleen B.M. Claes
Chrystelle Colas
Marie-Agnès Collonge-Rame
Capucine Delnatte
Laurence Faivre
Sophie Giraud
Christine Lasset
Véronique Mari
Noura Mebirouk
Emmanuelle Mouret-Fourme
Hélène Schuster
Dominique Stoppa-Lyonnet
Antonis Antoniou
Jackie Cook
Rosemarie Davidson
Douglas Easton
Ros Eeles
D. Gareth Evans
Debra Frost
Helen Hanson
Louise Izatt
Kai-ren Ong
Lucy Side
Aoife O’Shaughnessy-Kirwan
Marc Tischkowitz
Lisa Walker
Mary B. Daly
Miguel de la Hoya
Robin de Putter
Peter Devilee
Orland Diez
Yuan Chun Ding
Susan M. Domchek
Cecilia M. Dorfling
Martine Dumont
Bent Ejlertsen
Christoph Engel
Lenka Foretova
Florentia Fostira
Michael Friedlander
Eitan Friedman
Patricia A. Ganz
Judy Garber
Andrea Gehrig
Anne-Marie Gerdes
Paul Gesta
Gord Glendon
Andrew K. Godwin
David E. Goldgar
Anna González-Neira
Mark H. Greene
Daphne Gschwantler-Kaulich
Eric Hahnen
Ute Hamann
Julia Hentschel
Frans B.L. Hogervorst
Maartje J. Hooning
Judit Horvath
Chunling Hu
Peter J. Hulick
Evgeny N. Imyanitov
Georgia Chenevix-Trench
Kelly-Anne Phillips
Amanda Spurdle
Marinus Blok
Frans Hogervorst
Maartje Hooning
Marco Koudijs
Arjen Mensenkamp
Hanne Meijers-Heijboer
Matti Rookus
Klaartje van Engelen
Catherine Noguès
Claudine Isaacs
Angel Izquierdo
Anna Jakubowska
Paul A. James
Ramunas Janavicius
Esther M. John
Vijai Joseph
Beth Y. Karlan
Karin Kast
Torben A. Kruse
Ava Kwong
Yael Laitman
Conxi Lazaro
Jenny Lester
Fabienne Lesueur
Annelie Liljegren
Jennifer T. Loud
Jan Lubiński
Phuong L. Mai
Siranoush Manoukian
Hanne E.J. Meijers-Heijboer
Alfons Meindl
Arjen R. Mensenkamp
Austin Miller
Marco Montagna
Semanti Mukherjee
Anna Marie Mulligan
Katherine L. Nathanson
Susan L. Neuhausen
Heli Nevanlinna
Dieter Niederacher
Finn Cilius Nielsen
Liene Nikitina-Zake
Edith Olah
Olufunmilayo I. Olopade
Ana Osorio
Claus-Eric Ott
Laura Papi
Sue K. Park
Michael T. Parsons
Inge Sokilde Pedersen
Bernard Peissel
Ana Peixoto
Paolo Peterlongo
Georg Pfeiler
Karolina Prajzendanc
Miquel Angel Pujana
Paolo Radice
Juliane Ramser
Susan J. Ramus
Johanna Rantala
Gad Rennert
Harvey A. Risch
Mark Robson
Karina Rønlund
Ritu Salani
Leigha Senter
Payal D. Shah
Priyanka Sharma
Lucy E. Side
Christian F. Singer
Thomas P. Slavin
Penny Soucy
Melissa C. Southey
Amanda B. Spurdle
Doris Steinemann
Zoe Steinsnyder
Christian Sutter
Yen Yen Tan
Manuel R. Teixeira
Soo Hwang Teo
Darcy L. Thull
Silvia Tognazzo
Amanda E. Toland
Alison H. Trainer
Nadine Tung
Elizabeth J. van Rensburg
Ana Vega
Jeroen Vierstraete
Gabriel Wagner
Shan Wang-Gohrke
Barbara Wappenschmidt
Jeffrey N. Weitzel
Siddhartha Yadav
Xin Yang
Drakoulis Yannoukakos
Dario Zimbalatti
Kenneth Offit
Mads Thomassen
Fergus J. Couch
Rita K. Schmutzler
Jacques Simard
Douglas F. Easton
Antonis C. Antoniou
Pediatric surgery
Human genetics
CCA - Cancer biology and immunology
CCA - Cancer Treatment and quality of life
Amsterdam Reproduction & Development (AR&D)
Apollo - University of Cambridge Repository
University of Cambridge [UK] (CAM)
Netherlands Cancer Institute (NKI)
Antoni van Leeuwenhoek Hospital
Chapel Allerton Hospital
Great Ormond Street Hospital for Children [London] (GOSH)
Helsingin yliopisto = Helsingfors universitet = University of Helsinki
Cancer et génome: Bioinformatique, biostatistiques et épidémiologie d'un système complexe
Mines Paris - PSL (École nationale supérieure des mines de Paris)
Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)
Institut Curie [Paris]
Université Paris sciences et lettres (PSL)
Mount Sinai Hospital [Toronto, Canada] (MSH)
University of Toronto (University of Toronto)
Christian-Albrechts University of Kiel
The University of Texas M.D. Anderson Cancer Center [Houston]
Fondazione IRCCS Istituto Nazionale Tumori - National Cancer Institute [Milan]
Vall d'Hebron Institute of Oncology [Barcelone] (VHIO)
Vall d'Hebron University Hospital [Barcelona]
Landspitali National University Hospital of Iceland
University of Iceland [Reykjavik]
CIBER de Enfermedades Raras (CIBERER)
Spanish National Cancer Research Center (CNIO)
Centre Régional de Lutte contre le Cancer François Baclesse [Caen] (UNICANCER/CRLC)
Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)
Pomeranian Medical University [Szczecin] (PUM)
University of California (UC)
Maastricht University Medical Centre (MUMC)
Maastricht University [Maastricht]
European Institute of Oncology IRCCS [Milan, Italy] (EIO)
Zealand University Hospital [Roskilde, Denmark]
Lund University [Lund]
National Institute of Oncology [Budapest, Hungary]
Abramson Cancer Center [philadelphia]
University of Pennsylvania-Perelman School of Medicine
University of Pennsylvania
Institute of Genetic Medicine [Newcastle]
Newcastle University [Newcastle]
Royal Devon & Exeter Hospital, Exeter, UK
Catalan Institute of Oncology [Barcelone, Espagne]
Huntsman Cancer Institute [Salt Lake City]
University of Utah
Instituto de Investigación Sanitaria del Hospital Clínico San Carlos [Madrid, Spain] (IdISSC)
Pisa University Hospital
Peter MacCallum Cancer Centre [Melbourne, Australie]
University of Melbourne
Aarhus University Hospital
Columbia University [New York]
Ghent University Hospital
Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)
Sheffield Children's NHS Foundation Trust
Fox Chase Cancer Center
Queen Elizabeth University Hospital (Glasgow)
Centre hospitalier universitaire de Nantes (CHU Nantes)
Leiden University Medical Center (LUMC)
Beckman Research Institute of the City of Hope
Abramson Cancer Center
University of Pretoria [South Africa]
Centre Hospitalier Universitaire de Québec Research Center [Canada]
Royal Marsden NHS Foundation Trust
Copenhagen University Hospital
Leipzig University
University of Manchester [Manchester]
Manchester Academic Health Science Centre (MAHSC)
Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL)
UNICANCER
Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)
Masaryk Memorial Cancer Institute (MMCI)
Institute of Nuclear and Radiological Sciences and Technology, Energy and Safety (INRASTES)
National Center for Scientific Research 'Demokritos' (NCSR)
NHMRC Clinical Trials Centre [Camperdown NSW 2050, Australie]
Chaim Sheba Medical Center
Tel Aviv University (TAU)
Jonsson Comprehensive Cancer Center
University of California [Los Angeles] (UCLA)
University of California (UC)-University of California (UC)
Dana-Farber Cancer Institute [Boston]
University of Würzburg
Rigshospitalet [Copenhagen]
Centre Hospitalier Georges Renon [Niort] (CH Georges Renon Niort)
Hospices Civils de Lyon (HCL)
University of Kansas [Kansas City]
National Cancer Institute [Bethesda] (NCI-NIH)
National Institutes of Health [Bethesda] (NIH)
Medizinische Universität Wien = Medical University of Vienna
University of Cologne
German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] (DKFZ)
Lancashire NHS Foundation Trust
University Hospital Leipzig
Department of Medical Oncology, Family Cancer Clinic
Erasmus University Medical Center [Rotterdam] (Erasmus MC)
Westfälische Wilhelms-Universität Münster = University of Münster (WWU)
Mayo Clinic
NorthShore University HealthSystem [Evanston, IL, USA]
The University of Chicago Medicine [Chicago]
N. N. Petrov Institute of Oncology
Georgetown Lombardi Comprehensive Cancer Center
Guy's and St Thomas' NHS Foundation Trust [London, UK]
Peter MacCallum Cancer Center, East Melbourne
Peter MacCallum Cancer Center
Vilnius University [Vilnius]
The State Scientific Research Institute Nature Research Centre, Vilnius, Lithuania
Stanford University School of Medicine [CA, USA]
Memorial Sloane Kettering Cancer Center [New York]
Cedars-Sinai Medical Center
Technische Universität Dresden = Dresden University of Technology (TU Dresden)
University Medical Center [Utrecht]
Odense University Hospital [Odense, Denmark]
The Hong Kong Hereditary Breast Cancer Family Registry
The University of Hong Kong (HKU)
Hong Kong Sanatorium and Hospital [Hong Kong] (HKSH)
Equipe de prévention et épidémiologie génétique
Centre Léon Bérard [Lyon]
Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE)
Université Claude Bernard Lyon 1 (UCBL)
Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)
David Geffen School of Medicine [Los Angeles]
Fondation MINES ParisTech
Karolinska Institutet [Stockholm]
University of Pittsburgh School of Medicine
Pennsylvania Commonwealth System of Higher Education (PCSHE)
Centre de Lutte contre le Cancer Antoine Lacassagne [Nice] (UNICANCER/CAL)
UNICANCER-Université Côte d'Azur (UCA)
Amsterdam UMC - Amsterdam University Medical Center
Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM)
Radboud University Medical Center [Nijmegen]
Roswell Park Cancer Institute [Buffalo]
Veneto Institute of Oncology IOV-IRCCS [Padua, Italy]
University of Toronto
University Health Network
University Hospital Düsseldorf
Latvian Biomedical Research and Study Centre [Rīga]
Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale (SESSTIM - U1252 INSERM - Aix Marseille Univ - UMR 259 IRD)
Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Institut Paoli-Calmettes
Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)
University of Chicago
Birmingham Women's and Children's NHS Foundation Trust
Cambridge University Hospitals - NHS (CUH)
Charité Campus Virchow-Klinikum (CVK)
Università degli Studi di Firenze = University of Florence (UniFI)
Seoul National University College of Medicine [Séoul, Corée du Sud] (SNUCM)
Seoul National University [Seoul] (SNU)
QIMR Berghofer Medical Research Institute
Aalborg University [Denmark] (AAU)
IRCCS Istituto Nazionale dei Tumori [Milano]
Instituto Português de Oncologia do Porto / Portuguese Oncology Institute of Porto (IPO Porto)
IFOM, Istituto FIRC di Oncologia Molecolare (IFOM)
Institut d'Investigació Biomèdica de Bellvitge [Barcelone] (IDIBELL)
Klinikum rechts der Isar [Munich, Germany]
University of New South Wales [Sydney] (UNSW)
Garvan Institute of medical research
Technion Faculty of Medicine [Haifa, Israel]
Yale School of Medicine [New Haven, Connecticut] (YSM)
Vejle Hospital [Danemark]
Ohio State University [Columbus] (OSU)
Centre de lutte contre le cancer Paul-Strauss
Institut de Cancérologie de Strasbourg Europe (ICANS)
Immuno-Rhumatologie Moléculaire
Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)
University of Kansas Medical Center [Kansas City, KS, USA]
Princess Anne Hospital
City of Hope Comprehensive Cancer Center [Duarte]
Monash University [Clayton]
Cancer Council Victoria [Melbourne, VIC, Australia]
Hannover Medical School [Hannover] (MHH)
Unité de génétique et biologie des cancers (U830)
Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)
Université Paris Descartes - Paris 5 (UPD5)
Heidelberg University Hospital [Heidelberg]
Institute of Biomedical Sciences Abel Salazar - ICBAS [Porto, Portugal]
Malaysia and University Malaya Cancer Research Institute
Faculty of Medicine, University of Malaya [Kuala Lumpur, Malaisie]
University of Malaya = Universiti Malaya [Kuala Lumpur, Malaisie] (UM)
McGill University = Université McGill [Montréal, Canada]
Beth Israel Deaconess Medical Center [Boston] (BIDMC)
Harvard Medical School [Boston] (HMS)
Fundación Pública Galega Medicina Xenómica - SERGAS [Santiago de Compostela, Spain] (Grupo de Medicina Xenómica)
CIBER de Enfermedades Raras (CIBERER)-Universidade de Santiago de Compostela [Spain] (USC )
Instituto de Investigaciones Sanitarias
Universidade de Santiago de Compostela [Spain] (USC )
Universiteit Gent = Ghent University (UGENT)
Oxford University Hospitals NHS Trust
University of Oxford
Universitätsklinikum Ulm - University Hospital of Ulm
University Hospital of Cologne [Cologne]
Mayo Clinic [Rochester]
Collaborators : Pascaline Berthet, Chrystelle Colas, Marie-Agnès Collonge-Rame, Capucine Delnatte, Laurence Faivre, Sophie Giraud, Christine Lasset, Véronique Mari, Noura Mebirouk, Emmanuelle Mouret-Fourme, Hélène Schuster, Dominique Stoppa-Lyonnet, Julian Adlard, Munaza Ahmed, Antonis Antoniou, Daniel Barrowdale, Paul Brennan, Carole Brewer, Jackie Cook, Rosemarie Davidson, Douglas Easton, Ros Eeles, D Gareth Evans, Debra Frost, Helen Hanson, Louise Izatt, Kai-Ren Ong, Lucy Side, Aoife O'Shaughnessy-Kirwan, Marc Tischkowitz, Lisa Walker, Georgia Chenevix-Trench, Kelly-Anne Phillips, Amanda Spurdle, Marinus Blok, Peter Devilee, Frans Hogervorst, Maartje Hooning, Marco Koudijs, Arjen Mensenkamp, Hanne Meijers-Heijboer, Matti Rookus, Klaartje van Engelen, Nadine Andrieu, Catherine Noguès
Dupuis, Christine
Institut Català de la Salut
[Barnes DR, McGuffog L, Leslie G, Dennis J] Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [Rookus MA, Mooij TM] The Netherlands Cancer Institute, Department of Epidemiology (PSOE), Amsterdam, The Netherlands. [Balmaña J] High Risk and Cancer Prevention Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Diez O] Oncogenetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain
Vall d'Hebron Barcelona Hospital Campus
Barnes, Daniel [0000-0002-3781-7570]
Leslie, Goska [0000-0001-5756-6222]
Dennis, Joe [0000-0003-4591-1214]
Mavaddat, Nasim [0000-0003-0307-055X]
RS: GROW - R4 - Reproductive and Perinatal Medicine
MUMC+: DA KG Lab Centraal Lab (9)
Universiteit Leiden
Roswell Park Cancer Institute [Buffalo] (RPCI)
Medical Oncology
Medicum
Kristiina Aittomäki / Principal Investigator
HUSLAB
Department of Medical and Clinical Genetics
Helsinki University Hospital Area
Department of Obstetrics and Gynecology
Biosciences
HUS Gynecology and Obstetrics
University of Helsinki
Institut Curie [Paris]-MINES ParisTech - École nationale supérieure des mines de Paris
Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)
MINES ParisTech - École nationale supérieure des mines de Paris
UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)
Pomeranian Medical University
University of California
University of Pennsylvania [Philadelphia]-Perelman School of Medicine
University of Pennsylvania [Philadelphia]
University of Leipzig [Leipzig, Allemagne]
Masaryk Memorial Cancer Institute (RECAMO)
Tel Aviv University [Tel Aviv]
University of California-University of California
University of Münster
Amsterdam UMC
Technical University of Munich (TUM)
Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI)
Garvan Institute of Medical Research [Sydney, Australia]
Yale University School of Medicine
Vejle Hospital
University of Kansas Medical Center [Lawrence]
Université Paris Descartes (Paris 5)
University of Malaya [Kuala Lumpur, Malaisie]
Universiteit Gent = Ghent University [Belgium] (UGENT)
University of Oxford [Oxford]
Source :
Genetics in Medicine, 22(10), 1653-1666. Lippincott Williams and Wilkins, Genetics in Medicine, Genetics in Medicine, 2020, 22 (10), pp.1653-1666. ⟨10.1038/s41436-020-0862-x⟩, Scientia, Barnes, D R, Rookus, M A, McGuffog, L, Leslie, G, Mooij, T M, Dennis, J, Mavaddat, N, Adlard, J, Ahmed, M, Aittomäki, K, Andrieu, N, Andrulis, I L, Arnold, N, Arun, B K, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Benitez, J, Berthet, P, Białkowska, K, Blanco, A M, Blok, M J, Bonanni, B, Boonen, S E, Borg, Å, Bozsik, A, Bradbury, A R, Brennan, P, Brewer, C, Brunet, J, Buys, S S, Caldés, T, Caligo, M A, Campbell, I, Christensen, L L, Chung, W K, Claes, K B M, Colas, C, Collonge-Rame, M A, Cook, J, Daly, M B, Davidson, R, de la Hoya, M, de Putter, R, Delnatte, C, Devilee, P, Horvath, J, Nielsen, F C, Pedersen, I S, GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators, GENEPSO Investigators & Consortium of Investigators of Modifiers of BRCA and BRCA2 2020, ' Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants ', Genetics in Medicine, vol. 22, no. 10, pp. 1653-1666 . https://doi.org/10.1038/s41436-020-0862-x, Barnes, D R, Rookus, M A, Mcguffog, L, Leslie, G, Mooij, T M, Dennis, J, Mavaddat, N, Adlard, J, Ahmed, M, Aittomäki, K, Andrieu, N, Andrulis, I L, Arnold, N, Arun, B K, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Benitez, J, Berthet, P, Białkowska, K, Blanco, A M, Blok, M J, Bonanni, B, Boonen, S E, Borg, Å, Bozsik, A, Bradbury, A R, Brennan, P, Brewer, C, Brunet, J, Buys, S S, Caldés, T, Caligo, M A, Campbell, I, Christensen, L L, Chung, W K, Claes, K B M, Colas, C, Collonge-rame, M, Cook, J, Daly, M B, Davidson, R, De La Hoya, M, De Putter, R, Delnatte, C, Devilee, P, Ejlertsen, B, Gerdes, A, Nielsen, F C & Consortium of Investigators of Modifiers of BRCA and BRCA2 2020, ' Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants ', Genetics in Medicine, vol. 22, no. 10, pp. 1653-1666 . https://doi.org/10.1038/s41436-020-0862-x, Barnes, D R, Rookus, M A, McGuffog, L, Leslie, G, Mooij, T M, Dennis, J, Mavaddat, N, Adlard, J, Ahmed, M, Aittomäki, K, Andrieu, N, Andrulis, I L, Arnold, N, Arun, B K, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Benitez, J, Berthet, P, Białkowska, K, Blanco, A M, Blok, M J, Bonanni, B, Boonen, S E, Borg, Å, Bozsik, A, Bradbury, A R, Brennan, P, Brewer, C, Brunet, J, Buys, S S, Caldés, T, Caligo, M A, Campbell, I, Christensen, L L, Chung, W K, Claes, K B M, Colas, C, Collonge-Rame, M-A, Cook, J, Daly, M B, Davidson, R, de la Hoya, M, de Putter, R, Delnatte, C, Devilee, P, Diez, O, Ding, Y C & Pedersen, I S 2020, ' Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants ', Genetics in Medicine, vol. 22, no. 10, pp. 1653-1666 . https://doi.org/10.1038/s41436-020-0862-x, Genetics in Medicine, 22(10), 1653-1666. Nature Publishing Group, Genetics in Medicine, 22(10), 1653-1666. Lippincott Williams & Wilkins, Genetics in Medicine, 22(10), 1653-1666. SPRINGERNATURE, Genetics in Medicine, Nature Publishing Group, 2020, 22 (10), pp.1653-1666. ⟨10.1038/s41436-020-0862-x⟩, Barnes, D R, Rookus, M A, McGuffog, L, Leslie, G, Mooij, T M, Dennis, J, Mavaddat, N, Adlard, J, Ahmed, M, Aittomäki, K, Andrieu, N, Andrulis, I L, Arnold, N, Arun, B K, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Benitez, J, Berthet, P, Białkowska, K, Blanco, A M, Blok, M J, Bonanni, B, Boonen, S E, Borg, Å, Bozsik, A, Bradbury, A R, Brennan, P, Brewer, C, Brunet, J, Buys, S S, Caldés, T, Caligo, M A, Campbell, I, Christensen, L-L, Chung, W K, Claes, K B M, Colas, C, Collonge-Rame, M A, Cook, J, Daly, M B, Davidson, R, de la Hoya, M, de Putter, R, Gerdes, A M, Kruse, T A, Pedersen, I S, Rønlund, K, Thomassen, M, GEMO Study Collaborators, EMBRACE Collaborators, kConFab Investigators, HEBON Investigators, GENEPSO Investigators & Consortium of Investigators of Modifiers of BRCA and BRCA2 2020, ' Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 22, no. 10, pp. 1653-1666 . https://doi.org/10.1038/s41436-020-0862-x, Genetics in Medicine, 22, 1653-1666, GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators, GENEPSO Investigators & Consortium of Investigators of Modifiers of BRCA and BRCA2 2020, ' Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants ', Genetics in Medicine, vol. 22, no. 10, pp. 1653-1666 . https://doi.org/10.1038/s41436-020-0862-x, Dipòsit Digital de la UB, Universidad de Barcelona, GENETICS IN MEDICINE, Genetics in Medicine, 22, 10, pp. 1653-1666
Publication Year :
2020

Abstract

Contains fulltext : 229292.pdf (Publisher’s version ) (Open Access) 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. METHODS: 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. RESULTS: 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 = 3×10(-72)). For BRCA2, the strongest association was with overall BC PRS (HR = 1.31 [95% CI 1.27-1.36], P = 7×10(-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 = 3×10(-22)) and BRCA2 (HR = 1.44 [95% CI 1.30-1.60], P = 4×10(-12)) carriers. The associations in the prospective cohort were similar. CONCLUSION: 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.

Subjects

Subjects :
0301 basic medicine
Oncology
endocrine system diseases
Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES]
[SDV]Life Sciences [q-bio]
Càncer d'ovari
Genetic Phenomena::Genotype::Genetic Predisposition to Disease [PHENOMENA AND PROCESSES]
MODIFIERS
Diàtesi
SUSCEPTIBILITY
Carcinoma, Ovarian Epithelial
PRS
0302 clinical medicine
Breast cancer
3123 Gynaecology and paediatrics
Risk Factors
Medicine and Health Sciences
Medicine
Genetics(clinical)
genetics
Prospective Studies
Prospective cohort study
skin and connective tissue diseases
Genetics (clinical)
Ovarian Neoplasms
education.field_of_study
neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES]
Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17]
BRCA1 Protein
Hazard ratio
Absolute risk reduction
1184 Genetics, developmental biology, physiology
article
ASSOCIATION
neoplasias::neoplasias::neoplasias por localización::neoplasias de las glándulas endocrinas::neoplasias ováricas::carcinoma epitelial de ovario [ENFERMEDADES]
ddc
3. Good health
[SDV] Life Sciences [q-bio]
ovarian cancer
030220 oncology & carcinogenesis
Female
Cohort study
medicine.medical_specialty
Heterozygote
Population
3122 Cancers
Single-nucleotide polymorphism
Breast Neoplasms
MUTATION CARRIERS
Ovaris - Càncer - Aspectes genètics
Càncer de mama
03 medical and health sciences
breast cancer
SDG 3 - Good Health and Well-being
Ovarian cancer
BRCA1/2
Internal medicine
Humans
Genetic Predisposition to Disease
education
Retrospective Studies
fenómenos genéticos::genotipo::predisposición genética a la enfermedad [FENÓMENOS Y PROCESOS]
BRCA2 Protein
IDENTIFICATION
business.industry
Neoplasms::Neoplasms::Neoplasms by Site::Endocrine Gland Neoplasms::Ovarian Neoplasms::Carcinoma, Ovarian Epithelial [DISEASES]
Retrospective cohort study
ALLELES
medicine.disease
BRCA1
BRCA2
MODEL
PATHOLOGY
030104 developmental biology
Mutation
Mama - Càncer - Aspectes genètics
3111 Biomedicine
business

Details

Language :
English
ISSN :
10983600 and 15300366
Database :
OpenAIRE
Journal :
Genetics in Medicine, 22(10), 1653-1666. Lippincott Williams and Wilkins, Genetics in Medicine, Genetics in Medicine, 2020, 22 (10), pp.1653-1666. ⟨10.1038/s41436-020-0862-x⟩, Scientia, Barnes, D R, Rookus, M A, McGuffog, L, Leslie, G, Mooij, T M, Dennis, J, Mavaddat, N, Adlard, J, Ahmed, M, Aittomäki, K, Andrieu, N, Andrulis, I L, Arnold, N, Arun, B K, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Benitez, J, Berthet, P, Białkowska, K, Blanco, A M, Blok, M J, Bonanni, B, Boonen, S E, Borg, Å, Bozsik, A, Bradbury, A R, Brennan, P, Brewer, C, Brunet, J, Buys, S S, Caldés, T, Caligo, M A, Campbell, I, Christensen, L L, Chung, W K, Claes, K B M, Colas, C, Collonge-Rame, M A, Cook, J, Daly, M B, Davidson, R, de la Hoya, M, de Putter, R, Delnatte, C, Devilee, P, Horvath, J, Nielsen, F C, Pedersen, I S, GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators, GENEPSO Investigators & Consortium of Investigators of Modifiers of BRCA and BRCA2 2020, ' Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants ', Genetics in Medicine, vol. 22, no. 10, pp. 1653-1666 . https://doi.org/10.1038/s41436-020-0862-x, Barnes, D R, Rookus, M A, Mcguffog, L, Leslie, G, Mooij, T M, Dennis, J, Mavaddat, N, Adlard, J, Ahmed, M, Aittomäki, K, Andrieu, N, Andrulis, I L, Arnold, N, Arun, B K, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Benitez, J, Berthet, P, Białkowska, K, Blanco, A M, Blok, M J, Bonanni, B, Boonen, S E, Borg, Å, Bozsik, A, Bradbury, A R, Brennan, P, Brewer, C, Brunet, J, Buys, S S, Caldés, T, Caligo, M A, Campbell, I, Christensen, L L, Chung, W K, Claes, K B M, Colas, C, Collonge-rame, M, Cook, J, Daly, M B, Davidson, R, De La Hoya, M, De Putter, R, Delnatte, C, Devilee, P, Ejlertsen, B, Gerdes, A, Nielsen, F C & Consortium of Investigators of Modifiers of BRCA and BRCA2 2020, ' Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants ', Genetics in Medicine, vol. 22, no. 10, pp. 1653-1666 . https://doi.org/10.1038/s41436-020-0862-x, Barnes, D R, Rookus, M A, McGuffog, L, Leslie, G, Mooij, T M, Dennis, J, Mavaddat, N, Adlard, J, Ahmed, M, Aittomäki, K, Andrieu, N, Andrulis, I L, Arnold, N, Arun, B K, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Benitez, J, Berthet, P, Białkowska, K, Blanco, A M, Blok, M J, Bonanni, B, Boonen, S E, Borg, Å, Bozsik, A, Bradbury, A R, Brennan, P, Brewer, C, Brunet, J, Buys, S S, Caldés, T, Caligo, M A, Campbell, I, Christensen, L L, Chung, W K, Claes, K B M, Colas, C, Collonge-Rame, M-A, Cook, J, Daly, M B, Davidson, R, de la Hoya, M, de Putter, R, Delnatte, C, Devilee, P, Diez, O, Ding, Y C & Pedersen, I S 2020, ' Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants ', Genetics in Medicine, vol. 22, no. 10, pp. 1653-1666 . https://doi.org/10.1038/s41436-020-0862-x, Genetics in Medicine, 22(10), 1653-1666. Nature Publishing Group, Genetics in Medicine, 22(10), 1653-1666. Lippincott Williams & Wilkins, Genetics in Medicine, 22(10), 1653-1666. SPRINGERNATURE, Genetics in Medicine, Nature Publishing Group, 2020, 22 (10), pp.1653-1666. ⟨10.1038/s41436-020-0862-x⟩, Barnes, D R, Rookus, M A, McGuffog, L, Leslie, G, Mooij, T M, Dennis, J, Mavaddat, N, Adlard, J, Ahmed, M, Aittomäki, K, Andrieu, N, Andrulis, I L, Arnold, N, Arun, B K, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Benitez, J, Berthet, P, Białkowska, K, Blanco, A M, Blok, M J, Bonanni, B, Boonen, S E, Borg, Å, Bozsik, A, Bradbury, A R, Brennan, P, Brewer, C, Brunet, J, Buys, S S, Caldés, T, Caligo, M A, Campbell, I, Christensen, L-L, Chung, W K, Claes, K B M, Colas, C, Collonge-Rame, M A, Cook, J, Daly, M B, Davidson, R, de la Hoya, M, de Putter, R, Gerdes, A M, Kruse, T A, Pedersen, I S, Rønlund, K, Thomassen, M, GEMO Study Collaborators, EMBRACE Collaborators, kConFab Investigators, HEBON Investigators, GENEPSO Investigators & Consortium of Investigators of Modifiers of BRCA and BRCA2 2020, ' Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 22, no. 10, pp. 1653-1666 . https://doi.org/10.1038/s41436-020-0862-x, Genetics in Medicine, 22, 1653-1666, GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators, GENEPSO Investigators & Consortium of Investigators of Modifiers of BRCA and BRCA2 2020, ' Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants ', Genetics in Medicine, vol. 22, no. 10, pp. 1653-1666 . https://doi.org/10.1038/s41436-020-0862-x, Dipòsit Digital de la UB, Universidad de Barcelona, GENETICS IN MEDICINE, Genetics in Medicine, 22, 10, pp. 1653-1666
Accession number :
edsair.doi.dedup.....e3029ddb1c317fd1f62f6f475f3d6664
Full Text :
https://doi.org/10.1038/s41436-020-0862-x⟩