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Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

The American Journal of Human Genetics · 2018 · Vol. 104(1) · pp. 21–34

Nasim Mavaddat✉(University of Cambridge)Kyriaki Michailidou(University of Cambridge)Joe Dennis(University of Cambridge)Michael Lush(University of Cambridge)Laura Fachal(University of Cambridge)Andrew Lee(University of Cambridge)Jonathan P. Tyrer(University of Cambridge)Ting‐Huei Chen(Université Laval)Qin Wang(University of Cambridge)Manjeet K. Bolla(University of Cambridge)Xin Yang(National Institutes of Health)Muriel A. Adank(The Netherlands Cancer Institute)Thomas U. Ahearn(National Institutes of Health)Kristiina Aittomäki(University of Helsinki)Jamie Allen(University of Cambridge)Irene L. Andrulis(Mount Sinai Hospital)Hoda Anton‐Culver(University of California, Irvine)Natalia Antonenkova(N.N. Alexandrov National Cancer Centre)Volker Arndt(German Cancer Research Center)Kristan J. Aronson(Queen's University)Paul L. Auer(Cape Town HVTN Immunology Laboratory / Hutchinson Centre Research Institute of South Africa)Päivi Auvinen(University of Eastern Finland)Myrto Barrdahl(German Cancer Research Center)Laura E. Beane Freeman(National Institutes of Health)Matthias W. Beckmann(Universitätsklinikum Erlangen)Sabine Behrens(German Cancer Research Center)Javier Benı́tez(Spanish National Cancer Research Centre)Marina Bermisheva(Russian Academy of Sciences)Leslie Bernstein(City of Hope)Carl Blomqvist(University of Helsinki)Natalia Bogdanova(Medizinische Hochschule Hannover)Stig E. Bojesen(University of Copenhagen)Bernardo Bonanni(European Institute of Oncology)Anne‐Lise Børresen‐Dale(Oslo University Hospital)Hiltrud Brauch(German Cancer Research Center)Michael Bremer(Medizinische Hochschule Hannover)Hermann Brenner(German Cancer Research Center)Adam R. Brentnall(Queen Mary University of London)Ian W. Brock(University of Sheffield)Angela Brooks‐Wilson(BC Cancer Agency)Sara Y. Brucker(University of Tübingen)Thomas Brüning(Institute for Prevention and Occupational Medicine)Barbara Burwinkel(German Cancer Research Center)Daniele Campa(University of Pisa)Brian D. Carter(American Cancer Society)Jose E. Castelao(Servicio Gallego de Salud)Stephen J. Chanock(National Institutes of Health)Rowan T. Chlebowski(University of California, Los Angeles)Hans Christiansen(Medizinische Hochschule Hannover)Christine L. Clarke(The University of Sydney)J. Margriet Collée(Erasmus MC)Emilie Cordina‐Duverger(Inserm)Sten Cornelissen(The Netherlands Cancer Institute)Fergus J. Couch(Mayo Clinic)Angela Cox(University of Sheffield)Simon S. Cross(University of Sheffield)Kamila Czene(Karolinska Institutet)Mary B. Daly(Fox Chase Cancer Center)Peter Devilee(Leiden University Medical Center)Thilo Dörk(Medizinische Hochschule Hannover)Isabel dos‐Santos‐Silva(London School of Hygiene & Tropical Medicine)Martine Dumont(Centre hospitalier universitaire de Québec)Lorraine Durcan(University of Southampton)Miriam Dwek(University of Westminster)Diana Eccles(University of Southampton)Arif B. Ekici(Universitätsklinikum Erlangen)A. Heather Eliassen(Brigham and Women's Hospital)Carolina Ellberg(Lund University)Christoph Engel(Leipzig University)Mikael Eriksson(Karolinska Institutet)D. Gareth Evans(Manchester Academic Health Science Centre)Peter A. Fasching(University of California, Los Angeles)Jonine D. Figueroa(National Institutes of Health)Olivia Fletcher(Institute of Cancer Research)Henrik Flyger(Gentofte Hospital)Asta Försti(German Cancer Research Center)Lin Fritschi(Curtin University)Marike Gabrielson(Karolinska Institutet)Manuela Gago-Domínguez(University of California San Diego)Susan M. Gapstur(American Cancer Society)José Á. García-Sáenz(Hospital Clínico San Carlos)Mia M. Gaudet(American Cancer Society)V. Georgoulias(University Hospital of Heraklion)Graham G. Giles(The University of Melbourne)I. R. Gilyazova(Russian Academy of Sciences)Gord Glendon(Mount Sinai Hospital)Mark S. Goldberg(Royal Victoria Hospital)David E. Goldgar(University of Utah)Anna González‐Neira(Spanish National Cancer Research Centre)Grethe I.G. Alnæs(Oslo University Hospital)Mervi Grip(Oulu University Hospital)Jacek Gronwald(Pomeranian Medical University)Anne Grundy(Centre Hospitalier de l’Université de Montréal)Pascal Guénel(Inserm)Lothar Haeberle(Universitätsklinikum Erlangen)Eric Hahnen(University of Cologne)Christopher A. Haiman(University of Southern California)Niclas Håkansson(Karolinska Institutet)Ute Hamann(German Cancer Research Center)Susan E. Hankinson(University of Massachusetts Amherst)Elaine F. Harkness(Manchester Academic Health Science Centre)Steven N. Hart(Mayo Clinic in Florida)Wei He(Karolinska Institutet)Alexander Hein(Universitätsklinikum Erlangen)Jane Heyworth(The University of Western Australia)Peter Hillemanns(Medizinische Hochschule Hannover)Antoinette Hollestelle(Erasmus MC Cancer Institute)Maartje J. Hooning(Erasmus MC Cancer Institute)Robert N. Hoover(National Institutes of Health)John L. Hopper(The University of Melbourne)Anthony Howell(University of Manchester)Guanmengqian Huang(German Cancer Research Center)Keith Humphreys(Karolinska Institutet)David J. Hunter(Harvard University)Milena Jakimovska(Macedonian Academy of Sciences and Arts)Anna Jakubowska(Pomeranian Medical University)Wolfgang Janni(University Hospital Ulm)Esther M. John(Stanford University)Nichola Johnson(Institute of Cancer Research)Michael E. Jones(Institute of Cancer Research)Arja Jukkola‐Vuorinen(Tampere University Hospital)Audrey Jung(German Cancer Research Center)Rudolf Kaaks(German Cancer Research Center)Katarzyna Kaczmarek(Pomeranian Medical University)Vesa Kataja(University of Eastern Finland)Renske Keeman(The Netherlands Cancer Institute)Michael J. Kerin(Ollscoil na Gaillimhe – University of Galway)Э. К. Хуснутдинова(Russian Academy of Sciences)Johanna I. Kiiski(University of Helsinki)Julia A. Knight(University of Toronto)Yon‐Dschun Ko(Johanniter-Krankenhaus Bonn)Veli‐Matti Kosma(University of Eastern Finland)Stella Koutros(National Institutes of Health)Vessela N. Kristensen(Oslo University Hospital)Ute Krüger(Lund University)Tabea Kühl(Universität Hamburg)Diether Lambrechts(VIB-KU Leuven Center for Cancer Biology)Loı̈c Le Marchand(University of Hawaiʻi at Mānoa)Eunjung Lee(University of Southern California)Flavio Lejbkowicz(Carmel Medical Center)Jenna Lilyquist(Mayo Clinic in Florida)Annika Lindblom(Karolinska University Hospital)Sara Lindström(University of Washington)Jolanta Lissowska(The Maria Sklodowska-Curie National Research Institute of Oncology)Wing‐Yee Lo(Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology)Sibylle Loibl(German Breast group)Jirong Long(Vanderbilt University)Jan Lubiński(Pomeranian Medical University)Michael P. Lux(Universitätsklinikum Erlangen)Robert J. MacInnis(The University of Melbourne)Tom Maishman(University of Southampton)Enes Makalic(The University of Melbourne)Ivana Maleva Kostovska(Macedonian Academy of Sciences and Arts)Arto Mannermaa(University of Eastern Finland)Siranoush Manoukian(Fondazione IRCCS Istituto Nazionale dei Tumori)Sara Margolin(Karolinska Institutet)John W.M. Martens(Erasmus MC Cancer Institute)Marı́a Elena Martı́nez(University of California San Diego)Dimitrios Mavroudis(University Hospital of Heraklion)Catriona McLean(The Alfred Hospital)Alfons Meindl(Ludwig-Maximilians-Universität München)Usha Menon(MRC Clinical Trials Unit at UCL)Pooja Middha(German Cancer Research Center)Nicola Miller(Ollscoil na Gaillimhe – University of Galway)Fernando Moreno(Hospital Clínico San Carlos)Anna Marie Mulligan(University Health Network)Claire Mulot(Inserm)Víctor M. Muñoz-Garzón(University Hospital Complex Of Vigo)Susan L. Neuhausen(City of Hope)Heli Nevanlinna(University of Helsinki)Patrick Neven(KU Leuven)William G. Newman(Manchester Academic Health Science Centre)Sune F. Nielsen(Herlev Hospital)Børge G. Nordestgaard(University of Copenhagen)Aaron D. Norman(Mayo Clinic in Florida)Kenneth Offit(Memorial Sloan Kettering Cancer Center)Janet E. Olson(Mayo Clinic in Florida)Håkan Olsson(Lund University)Nick Orr(Queen's University Belfast)V. Shane Pankratz(University of New Mexico)Tjoung‐Won Park‐Simon(Medizinische Hochschule Hannover)José Ignacio Arias Pérez(Hospital Monte Naranco)Clara Pérez-Barrios(Hospital Universitario Puerta de Hierro Majadahonda)Paolo Peterlongo(IFOM)Julian Peto(London School of Hygiene & Tropical Medicine)Mila Pinchev(Carmel Medical Center)Dijana Plaseska‐Karanfilska(Macedonian Academy of Sciences and Arts)Eric C. Polley(Mayo Clinic in Florida)Ross L. Prentice(Fred Hutch Cancer Center)Nadège Presneau(University of Westminster)Darya Prokofyeva(Bashkir State University)Kristen S. Purrington(Wayne State University)Katri Pylkäs(NordLab)Brigitte Rack(University Hospital Ulm)Paolo Radice(Fondazione IRCCS Istituto Nazionale dei Tumori)Rohini Rau‐Murthy(Memorial Sloan Kettering Cancer Center)Gad Rennert(Carmel Medical Center)Hedy S. Rennert(Carmel Medical Center)Valerie Rhenius(University of Cambridge)Mark E. Robson(Memorial Sloan Kettering Cancer Center)Atocha Romero(Hospital Universitario Puerta de Hierro Majadahonda)Kathryn J. Ruddy(Mayo Clinic in Arizona)Matthias Ruebner(Universitätsklinikum Erlangen)Emmanouil Saloustros(University Hospital of Larissa)Dale P. Sandler(National Institute of Environmental Health Sciences)Elinor J. Sawyer(Guy's Hospital)Daniel F. Schmidt(The University of Melbourne)Rita K. Schmutzler(University of Cologne)Andreas Schneeweiß(German Cancer Research Center)Minouk J. Schoemaker(Institute of Cancer Research)Fredrick R. Schumacher(Case Western Reserve University)Peter Schürmann(Medizinische Hochschule Hannover)Lukas Schwentner(University Hospital Ulm)Christopher G. Scott(Mayo Clinic in Florida)Rodney J. Scott(John Hunter Hospital)Caroline Seynaeve(Erasmus MC Cancer Institute)Mitul Shah(University of Cambridge)Mark E. Sherman(Jacksonville College)Martha J. Shrubsole(Vanderbilt University)Xiao‐Ou Shu(Vanderbilt University)Susan Slager(Mayo Clinic in Florida)Ann Smeets(KU Leuven)Christof Sohn(German Cancer Research Center)Penny Soucy(Centre hospitalier universitaire de Québec)Melissa C. Southey(The University of Melbourne)John J. Spinelli(University of British Columbia)Christa Stegmaier(Krebsregister Saarland)Jennifer Stone(The University of Melbourne)Anthony J. Swerdlow(Institute of Cancer Research)Rulla M. Tamimi(Brigham and Women's Hospital)William Tapper(University of Southampton)Jack A. Taylor(National Institute of Environmental Health Sciences)Mary Beth Terry(Columbia University)Kathrin Thöne(Universität Hamburg)Rob A.�E.�M. Tollenaar(Leiden University Medical Center)Ian Tomlinson(Centre for Human Genetics)Thérèse Truong(Inserm)Maria Tzardi(University Hospital of Heraklion)Hans-Ulrich Ulmer(Klinikum Mittelbaden)Michael Untch(Helios Hospital Berlin-Buch)Celine M. Vachon(Mayo Clinic in Florida)Elke M. van Veen(Manchester Academic Health Science Centre)Joseph Vijai(Memorial Sloan Kettering Cancer Center)Clarice R. Weinberg(National Institute of Environmental Health Sciences)Camilla Wendt(Karolinska Institutet)Alice S. Whittemore(Stanford University)Hans Wildiers(KU Leuven)Walter C. Willett(Brigham and Women's Hospital)Robert Winqvist(NordLab)Alicja Wolk(Uppsala University)Xiaohong R. Yang(National Institutes of Health)Drakoulis Yannoukakos(National Centre of Scientific Research "Demokritos")Yan Zhang(German Cancer Research Center)Wei Zheng(Vanderbilt University)Argyrios Ziogas(University of California, Irvine)Alison M. Dunning(University of Cambridge)Deborah J. Thompson(University of Cambridge)Georgia Chenevix‐Trench(QIMR Berghofer Medical Research Institute)Jenny Chang‐Claude(Universität Hamburg)Marjanka K. Schmidt(The Netherlands Cancer Institute)Per Hall(Karolinska Institutet)Roger L. Milne(The University of Melbourne)Paul D.P. Pharoah(University of Cambridge)Antonis C. Antoniou(University of Cambridge)Nilanjan Chatterjee(National Institutes of Health)Peter Kraft(Harvard University)Montserrat García‐Closas(National Institutes of Health)Jacques Simard(Centre hospitalier universitaire de Québec)Douglas F. Easton(University of Cambridge)

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Genetic Associations and Epidemiology BRCA gene mutations in cancer Bioinformatics and Genomic NetworksBreast cancerPolygenic risk scoreOncologyCancerMedicineInternal medicineBiologyGeneticsGeneGenotype

MeSH terms

AdultAge FactorsAgedAged, 80 and overBreast NeoplasmsFemaleHumansMedical History TakingMiddle AgedReceptors, EstrogenReproducibility of ResultsRisk AssessmentGenetic Predisposition to DiseaseMultifactorial InheritancePolymorphism, Single Nucleotide