The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
Inge M. M. Lakeman(Leiden University Medical Center), Alexandra J. van den Broek(The Netherlands Cancer Institute), Julien A M Vos(The Netherlands Cancer Institute), Daniel R. Barnes(University of Cambridge), Julian Adlard(Chapel Allerton Hospital), Irene L. Andrulis(Mount Sinai Hospital), Aðalgeir Arason(Reykjavík University), Norbert Arnold(Christian-Albrechts-Universität zu Kiel), Banu Arun(The University of Texas MD Anderson Cancer Center), Judith Balmañà(Hebron University), Daniel Barrowdale(University of Cambridge), Javier Benı́tez(Spanish National Cancer Research Centre), Åke Borg(Lund University), Trinidad Caldés(Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Maria A. Caligo(Istituto di Genetica Molecolare), Wendy K. Chung(Columbia University), Kathleen Claes(Ghent University Hospital), Emmanuelle Barouk-Simonet(Institut Bergonié), Muriel Belotti(Institut Curie), Pascaline Berthet(Centre François Baclesse), Yves‐Jean Bignon(Centre Jean Perrin), Valérie Bonadona(Centre Léon Bérard), Brigitte Bressac–de Paillerets(Institut Gustave Roussy), Bruno Buecher(Institut Curie), Sandrine M. Caputo(Institut Curie), Olivier Caron(Institut Gustave Roussy), Laurent Castera(Centre François Baclesse), Virginie Caux‐Moncoutier(Institut Curie), Chrystelle Colas(Institut Curie), Marie‐Agnès Collonge‐Rame(Centre Hospitalier Universitaire de Besançon), Isabelle Coupier(Hôpital Arnaud de Villeneuve), Antoine De Pauw(Institut Curie), Capucine Delnatte(Institut de Cancérologie de l'Ouest), Camille Elan(Institut Curie), Laurence Faivre(Centre Georges François Leclerc), Sandra Fert Ferrer, Marion Gauthier-Villars(Institut Curie), Paul Gesta(Centre Hospitalier de Niort), Sophie Giraud(Hospices Civils de Lyon), Lisa Golmard(Institut Curie), Claude Houdayer(Inserm), Christine Lasset(Centre Léon Bérard), Maïté Laurent(Institut Curie), Dominique Leroux(Centre Hospitalier Universitaire de Grenoble), Michel Longy(Institut Bergonié), Véronique Mari(Centre Antoine Lacassagne), Sylvie Mazoyer(Université Claude Bernard Lyon 1), Noura Mebirouk(École Nationale Supérieure des Mines de Paris), Isabelle Mortemousque(Centre Hospitalier Universitaire de Tours), Fabienne Prieur(Hôpital Nord), Pascal Pujol(Hôpital Arnaud de Villeneuve), Claire Saule(Institut Curie), Helene Schuster, Nicolas Sévenet(Institut Bergonié), Hagay Sobol(Aix-Marseille Université), Johanna Sokolowska(Centre Hospitalier Régional et Universitaire de Nancy), Laurence Venat‐Bouvet(Hôpital Dupuytren), Munaza Ahmed(Great Ormond Street Hospital), Julian Barwell(University Hospitals of Leicester NHS Trust), Angela Brady(London North West Healthcare NHS Trust), Paul Brennan(KK Women's and Children's Hospital), Carole Brewer(Royal Devon and Exeter Hospital), Jackie Cook(Sheffield Children's Hospital), Rosemarie Davidson, Alan Donaldson(St Michael's Hospital), Alison M. Dunning(University of Cambridge), Jacqueline Eason(Nottingham University Hospitals NHS Trust), Diana M. Eccles(University of Southampton), Helen Gregory(University of Aberdeen), Helen Hanson(St George's Hospital), Patricia A. Harrington(University of Cambridge), Alex Henderson(Centre for Life), Shirley Hodgson(St George's, University of London), Michael J. Kennedy(Trinity College Dublin), Fiona Lalloo(Cornell University), Clare Miller(University of Liverpool), Patrick J. Morrison(University of Ulster), Kai‐Ren Ong(Birmingham Women's Hospital), Aoife O’Shaughnessy-Kirwan(SingHealth Duke-NUS Academic Medical Centre), Jo Perkins(University of Cambridge), Mary Porteous(Western General Hospital), Mark T. Rogers(University Hospital of Wales), Lucy Side(Princess Anne Hospital), Katie Snape(St George's, University of London), Lisa Walker(Churchill Hospital), J. Margriet Collée(Erasmus MC), Fergus J. Couch(Mayo Clinic in Arizona), Mary B. Daly(Fox Chase Cancer Center), Joe Dennis(University of Cambridge), Mallika Dhawan(University of California, San Francisco), Susan M. Domchek(University of Pennsylvania), Ros Eeles(Royal Marsden NHS Foundation Trust), Christoph Engel(Leipzig University), D. Gareth Evans(Manchester Academic Health Science Centre), Lídia Feliubadaló(Institut d'Investigació Biomédica de Bellvitge), Lenka Foretová(Masaryk Memorial Cancer Institute), Eitan Friedman(Tel Aviv University), Debra Frost(University of Cambridge), Patricia A. Ganz(UCLA Jonsson Comprehensive Cancer Center), Judy Garber(Dana-Farber Cancer Institute), Simon A. Gayther(Cedars-Sinai Medical Center), Anne‐Marie Gerdes(Copenhagen University Hospital), Andrew K. Godwin(University of Kansas Medical Center), David E. Goldgar(University of Utah), Eric Hahnen(University of Cologne), Christopher R. Hake(Waukesha Memorial Hospital), U. Hamann(German Cancer Research Center), Frans B.L. Hogervorst(The Netherlands Cancer Institute), Maartje J. Hooning(Erasmus MC Cancer Institute), John L. Hopper(The University of Melbourne), Peter J. Hulick(NorthShore University HealthSystem), Evgeny N. Imyanitov(Institute of Oncology NN Petrov), Gord Glendon(Mount Sinai Hospital), Anna Marie Mulligan(University Health Network), Christi J. van Asperen(Leiden University Medical Center), Cora M. Aalfs(Amsterdam University Medical Centers), Muriel A. Adank(The Netherlands Cancer Institute), Margreet G.E.M. Ausems(University Medical Center Utrecht), Marinus J. Blok(Maastricht University), Encarna B. Gómez Garcia(Maastricht University), Bernadette A. M. Heemskerk‐Gerritsen(Erasmus MC Cancer Institute), Antoinette Hollestelle(Erasmus MC Cancer Institute), Agnes Jager(Erasmus MC Cancer Institute), Linetta B. Koppert(Erasmus MC Cancer Institute), Marco J. Koudijs(University Medical Center Utrecht), Mieke Kriege(Erasmus MC Cancer Institute), Hanne Meijers‐Heijboer(Amsterdam University Medical Centers), Arjen R. Mensenkamp(Radboud University Nijmegen), Thea M. Mooij(The Netherlands Cancer Institute), Jan C. Oosterwijk(University Medical Center Groningen), Ans M.W. van den Ouweland(Erasmus MC), Frederieke H. van der Baan(The Netherlands Cancer Institute), Annemieke H. van der Hout(University Medical Center Groningen), Lizet E. van der Kolk(The Netherlands Cancer Institute), Rob B. van der Luijt(University Medical Center Utrecht), Carolien H. M. van Deurzen(Erasmus MC), Helena C. van Doorn(Erasmus MC Cancer Institute), Klaartje van Engelen(Amsterdam UMC Location Vrije Universiteit Amsterdam), Liselotte P. van Hest(Amsterdam University Medical Centers), Theo A.M. van Os(Amsterdam University Medical Centers), Senno Verhoef(The Netherlands Cancer Institute), Maartje J. Vogel(The Netherlands Cancer Institute), Juul T. Wijnen(Leiden University Medical Center), Jonathan Beesley(QIMR Berghofer Medical Research Institute), Stephen Fox(Peter MacCallum Cancer Centre), Helene Holland(QIMR Berghofer Medical Research Institute), Kelly‐Anne Phillips(The University of Melbourne), Amanda B. Spurdle(QIMR Berghofer Medical Research Institute), Claudine Isaacs(Georgetown University), Louise Izatt(Guy's and St Thomas' NHS Foundation Trust), Anna Jakubowska(Pomeranian Medical University), Paul A. James(The University of Melbourne), Ramūnas Janavičius(Vilnius University), Uffe Birk Jensen(Aarhus University Hospital), Yue Jiao(Human Genetic of Infectious Diseases), Esther M. John(Stanford University), Joseph Vijai(Memorial Sloan Kettering Cancer Center), Beth Karlan(University of California, Los Angeles), Carolien M. Kets(The Netherlands Cancer Institute), Irene Konstantopoulou(National Centre of Scientific Research "Demokritos"), Ava Kwong(Hong Kong Sanatorium and Hospital), Clémentine Legrand(Centre Hospitalier Universitaire de Grenoble), Goska Leslie(University of Cambridge), Fabienne Lesueur(Human Genetic of Infectious Diseases), Jennifer T. Loud(National Cancer Institute), Jan Lubiński(Pomeranian Medical University), Siranoush Manoukian(Fondazione IRCCS Istituto Nazionale dei Tumori), Lesley McGuffog(University of Cambridge), Austin Miller(Roswell Park Comprehensive Cancer Center), D. Molina Gomes(Centre Hospitalier Intercommunal de Poissy), Marco Montagna(Istituto Oncologico Veneto), Emmanuelle Mouret‐Fourme(Institut Curie), Katherine L. Nathanson(University of Pennsylvania), Susan L. Neuhausen(City Of Hope National Medical Center), Heli Nevanlinna(University of Helsinki), Joanne Ngeow Yuen Yie(Nanyang Technological University), Edith Olah(National Institute of Oncology), Olufunmilayo I. Olopade(University of Chicago), Sue K. Park(Seoul National University), Michael T. Parsons(QIMR Berghofer Medical Research Institute), Paolo Peterlongo(IFOM), Marion Piedmonte(Roswell Park Comprehensive Cancer Center), Paolo Radice(Fondazione IRCCS Istituto Nazionale dei Tumori), Johanna Rantala(Karolinska Institutet), Gad Rennert(Carmel Medical Center), Harvey A. Risch(Yale University), Rita K. Schmutzler(University of Cologne), Priyanka Sharma(University of Kansas Medical Center), Jacques Simard(Centre hospitalier universitaire de Québec), Christian F. Singer(Comprehensive Cancer Center Vienna), Zsofia Stadler(Memorial Sloan Kettering Cancer Center), Dominique Stoppa‐Lyonnet(Délégation Paris 5), Christian Sutter(Heidelberg University), Yen Y. Tan(Medical University of Vienna), Manuel R. Teixeira(Universidade do Porto), Soo‐Hwang Teo(University of Malaya), Àlex Teulé(Institut d'Investigació Biomédica de Bellvitge), Mads Thomassen(Odense University Hospital), Darcy L. Thull(University of Pittsburgh), Marc Tischkowitz(University of Cambridge), Amanda E. Toland(The Ohio State University), Nadine Tung(Beth Israel Deaconess Medical Center), Elizabeth J. van Rensburg(University of Pretoria), Ana Vega(Complejo Hospitalario Universitario de Santiago), Barbara Wappenschmidt(University of Cologne), Peter Devilee(Leiden University Medical Center), Christi J. van Asperen(Leiden University Medical Center), Jonine L. Bernstein(Memorial Sloan Kettering Cancer Center), Kenneth Offit(Memorial Sloan Kettering Cancer Center), Douglas F. Easton(University of Cambridge), Matti A. Rookus(The Netherlands Cancer Institute), Georgia Chenevix‐Trench(QIMR Berghofer Medical Research Institute), Antonis C. Antoniou(University of Cambridge), Mark E. Robson(Memorial Sloan Kettering Cancer Center), Marjanka K. Schmidt(Leiden University Medical Center)
Cited by 38Open Access
Abstract
PURPOSE: ) and contralateral breast cancer (CBC) risk, in BRCA1 and BRCA2 pathogenic variant heterozygotes. METHODS: and CBC risk. RESULTS: 5th and 95th percentile 10-year CBC risks were 22% and 32% for BRCA1 and 13% and 23% for BRCA2 heterozygotes, respectively. CONCLUSION: needs to be considered in the context of a multifactorial risk model to evaluate whether it might influence clinical decision-making.
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