ArticlemedRxiv : the preprint server for health sciences2025
Overlap of high-risk individuals across family history, genetic & non-genetic breast cancer risk models: Analysis of 180,398 women from European & Asian ancestries.
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118 authors.
Peh Joo HoHuman Genetics Division, Genome Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore City, 138672.
Christine Kim Yan LooHuman Genetics Division, Genome Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore City, 138672.
Meng Huang GohHuman Genetics Division, Genome Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore City, 138672.
Mustapha AbubakarDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, USA, Bethesda, MD, 20850.
Thomas U AhearnDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, USA, Bethesda, MD, 20850.
Irene L AndrulisFred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Canada, Toronto, Ontario, M5G 1×5.
Natalia N AntonenkovaN.N. Alexandrov Research Institute of Oncology and Medical Radiology, Belarus, Minsk, 223040.
Kristan J AronsonDepartment of Public Health Sciences, and Sinclair Cancer Research Institute, Queen's University, Canada, Kingston, ON, K7L 3N6.
Annelie AugustinssonOncology, Department of Clinical Sciences in Lund, Lund University, Sweden, Lund, 221 85.
Sabine BehrensDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Germany, Heidelberg, 69120.
Clara BodelonDepartment of Population Science, American Cancer Society, USA, Atlanta, GA, 30303.
Natalia V BogdanovaN.N. Alexandrov Research Institute of Oncology and Medical Radiology, Belarus, Minsk, 223040.
Manjeet K BollaCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, UK, Cambridge, CB1 8RN.
Kristen BrantleyDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, USA, Boston, MA, 02115.
Hermann BrennerDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Germany, Heidelberg, 69120.
Helen ByersDivision of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, UK, Manchester, M13 9WL.
Nicola J CampDepartment of Internal Medicine and Huntsman Cancer Institute, University of Utah, USA, Salt Lake City, UT, 84112.
Jose E CastelaoOncology and Genetics Unit, Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS) Foundation, Complejo Hospitalario Universitario de Santiago, SERGAS, Spain, Vigo, 36312.
Melissa H CessnaIntermountain Healthcare, USA, Salt Lake City, UT, 84143.
Jenny Chang-ClaudeDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Germany, Heidelberg, 69120.
Stephen J ChanockDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, USA, Bethesda, MD, 20850.
Georgia Chenevix-TrenchCancer Research Program, QIMR Berghofer Medical Research Institute Vol. Locked Bag 2000, Herston, QLD 4029, Australia, Brisbane, Queensland, 4006.
Ji-Yeob ChoiDepartment of Biomedical Sciences, Seoul National University Graduate School, Korea, Seoul, 03080.
Sarah V ColonnaDepartment of Internal Medicine and Huntsman Cancer Institute, University of Utah, USA, Salt Lake City, UT, 84112.
Kamila CzeneDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Sweden, Stockholm, 171 65.
Mary B DalyDepartment of Clinical Genetics, Fox Chase Cancer Center, USA, Philadelphia, PA, 19111.
Francoise DerouaneLeuven Multidisciplinary Breast Center, Department of Oncology, Leuven Cancer Institute, University Hospitals Leuven, Belgium, Leuven, 3000.
Thilo DörkGynaecology Research Unit, Hannover Medical School, Germany, Hannover, 30625.
A Heather EliassenDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, USA, Boston, MA, 02115.
Christoph EngelInstitute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Germany, Leipzig, 04107.
Mikael ErikssonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Sweden, Stockholm, 171 65.
D Gareth EvansDivision of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, UK, Manchester, M13 9WL.
Olivia FletcherThe Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, UK, London, SW7 3RP.
Lin FritschiSchool of Population Health, Curtin University, Australia, Perth, Western Australia, 6102.
Manuela Gago-DominguezCancer Genetics and Epidemiology Group, Genomic Medicine Group, Fundación Instituto de Investigación Sanitaria de Santiago de Compostela (FIDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, Spain, Santiago de Compostela, 15706.
Jeanine M GenkingerDepartment of Epidemiology, Mailman School of Public Health, Columbia University, USA, New York, NY, 10032.
Willemina R R Geurts-GieleDepartment of Clinical Genetics, Erasmus University Medical Center Vol. P.O. Box 2040, 3000 CA, the Netherlands, Rotterdam, 3015 CN.
Gord GlendonFred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Canada, Toronto, Ontario, M5G 1×5.
Per HallDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Sweden, Stockholm, 171 65.
Ute HamannMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Germany, Heidelberg, 69120.
Cecilia Y S HoDepartment of Molecular Pathology, Hong Kong Sanatorium and Hospital, Hong Kong.
Weang-Kee HoSchool of Mathematical Sciences, Faculty of Science and Engineering, University of Nottingham Malaysia, Malaysia, Semenyih, Selangor, 43500.
Maartje J HooningDepartment of Clinical Genetics, Erasmus University Medical Center Vol. P.O. Box 2040, 3000 CA, the Netherlands, Rotterdam, 3015 CN.
Reiner HoppeDr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Germany, Stuttgart, 70376.
Anthony HowellDivision of Cancer Sciences, University of Manchester, UK, Manchester, M13 9PL.
Keith HumphreysDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Sweden, Stockholm, 171 65.
ABCTB Investigators
kConFab Investigators
SGBCC Investigators
MyBrCa Investigators
Hidemi ItoDivision of Cancer Information and Control, Aichi Cancer Center Research Institute, Japan, Nagoya, 464-8681.
Motoki IwasakiDivision of Epidemiology, National Cancer Center Institute for Cancer Control, Japan, Tokyo, 104-0045.
Anna JakubowskaIndependent Laboratory of Molecular Biology and Genetic Diagnostics, Pomeranian Medical University, Poland, Szczecin, 171-252.
Helena JernströmOncology, Department of Clinical Sciences in Lund, Lund University, Sweden, Lund, 221 85.
Esther M JohnDepartment of Epidemiology and Population Health, Stanford University School of Medicine, USA, Stanford, CA, 94305.
Nichola JohnsonThe Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, UK, London, SW7 3RP.
Daehee KangCancer Research Institute, Seoul National University, Korea, Seoul, 03080.
Sung-Won KimDepartment of Surgery, Daerim Saint Mary's Hospital, Korea, Seoul, 07442.
Cari M KitaharaRadiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, USA, Bethesda, MD, 20892.
Yon-Dschun KoDepartment of Internal Medicine, Johanniter GmbH Bonn, Johanniter Krankenhaus, Germany, Bonn, 53177.
Peter KraftDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, USA, Bethesda, MD, 20850.
Ava KwongHong Kong Hereditary Breast Cancer Family Registry, Hong Kong.
Diether LambrechtsLaboratory for Translational Genetics, Department of Human Genetics, KU Leuven, Belgium, Leuven, 3000.
Susanna LarssonInstitute of Environmental Medicine, Karolinska Institutet, Sweden, Stockholm, 171 77.
Shuai LiCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, UK, Cambridge, CB1 8RN.
Annika LindblomDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Sweden, Stockholm, 171 76.
Martha LinetRadiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, USA, Bethesda, MD, 20892.
Jolanta LissowskaDepartment of Cancer Epidemiology and Prevention, M. Sklodowska-Curie National Research Oncology Institute, Poland, Warsaw, 02-034.
Artitaya LophatananonDivision of Population Health, Health Services Research and Primary Care, School of Health Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, UK, Manchester, M13 9PL.
Robert J MacInnisCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Australia, Melbourne, Victoria, 3010.
Arto MannermaaTranslational Cancer Research Area, University of Eastern Finland, Finland, Kuopio, 70210.
Siranoush ManoukianUnit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Italy, Milan, 20133.
Sara MargolinDepartment of Oncology, Södersjukhuset, Sweden, Stockholm, 118 83.
Keitaro MatsuoDivision of Cancer Epidemiology, Nagoya University Graduate School of Medicine, Japan, Nagoya, 466-8550.
Kyriaki MichailidouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, UK, Cambridge, CB1 8RN.
Roger L MilneCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Australia, Melbourne, Victoria, 3010.
Nur Aishah Mohd TaibDepartment of Surgery, Faculty of Medicine, University of Malaya, UM Cancer Research Institute, Malaysia, Kuala Lumpur, 50603.
Kenneth MuirDivision of Population Health, Health Services Research and Primary Care, School of Health Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, UK, Manchester, M13 9PL.
Rachel A MurphySchool of Population and Public Health, University of British Columbia, Canada, Vancouver, BC, V6T 1Z4.
William G NewmanDivision of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, UK, Manchester, M13 9WL.
Katie M O'BrienEpidemiology Branch, National Institute of Environmental Health Sciences, NIH, USA, Research Triangle Park, NC, 27709.
Nadia ObiInstitute for Occupational and Maritime Medicine, University Medical Center Hamburg-Eppendorf, Germany, Hamburg, 20246.
Olufunmilayo I OlopadeCenter for Clinical Cancer Genetics, The University of Chicago, USA, Chicago, IL, 60637.
Mihalis I PanayiotidisDepartment of Cancer Genetics, Therapeutics and Ultrastructural Pathology, The Cyprus Institute of Neurology & Genetics Vol. P.O.Box 23462, 1683, Nicosia, Cyprus, Cyprus, Nicosia, 2371.
Sue K ParkCancer Research Institute, Seoul National University, Korea, Seoul, 03080.
Tjoung-Won Park-SimonGynaecology Research Unit, Hannover Medical School, Germany, Hannover, 30625.
Alpa V PatelDepartment of Population Science, American Cancer Society, USA, Atlanta, GA, 30303.
Paolo PeterlongoGenome Diagnostics Program, IFOM ETS - the AIRC Institute of Molecular Oncology, Italy, Milan, 20139.
Dijana Plaseska-KaranfilskaResearch Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', MASA, Republic of North Macedonia, Skopje, 1000.
Katri PylkäsLaboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Finland, Oulu, 90220.
Muhammad U RashidMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Germany, Heidelberg, 69120.
Gad RennertFaculty of Medicine, Technion - Israel Institute of Technology and Association for Promotion of Research in Precision Medicine, Israel, Haifa, 35254.
Juan RodriguezDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Sweden, Stockholm, 171 65.
Emmanouil SaloustrosDivision of Oncology, Faculty of Medicine, School of Health Sciences, University of Thessaly, Greece, Larissa, 411 10.
Dale P SandlerEpidemiology Branch, National Institute of Environmental Health Sciences, NIH, USA, Research Triangle Park, NC, 27709.
Elinor J SawyerSchool of Cancer & Pharmaceutical Sciences, Comprehensive Cancer Centre, Guy's Campus, King's College London, UK, London.
Christopher G ScottDepartment of Quantitative Health Sciences, Division of Clinical Trials and Biostatistics, Mayo Clinic, USA, Rochester, MN, 55905.
Shamim ShahiSchool of Population and Public Health, University of British Columbia, Canada, Vancouver, BC, V6T 1Z4.
Xiao-Ou ShuDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, USA, Nashville, TN, 37232.
Katerina ShulmanClalit Regional Oncology Unit, Haifa and Western Galilee District, Israel, Haifa.
Jacques SimardGenomics Center, Centre Hospitalier Universitaire de Québec - Université Laval Research Center, Canada, Québec City, Québec, G1V 4G2.
Melissa C SoutheyPrecision Medicine, School of Clinical Sciences at Monash Health, Monash University, Australia, Clayton, Victoria, 3168.
Jennifer StoneCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Australia, Melbourne, Victoria, 3010.
Jack A TaylorEpidemiology Branch, National Institute of Environmental Health Sciences, NIH, USA, Research Triangle Park, NC, 27709.
Soo-Hwang TeoCancer Research Malaysia, Malaysia, Subang Jaya, Selangor, 47500.
Lauren R TerasDepartment of Population Science, American Cancer Society, USA, Atlanta, GA, 30303.
Mary Beth TerryDepartment of Epidemiology, Mailman School of Public Health, Columbia University, USA, New York, NY, 10032.
Diana TorresMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Germany, Heidelberg, 69120.
Celine M VachonDepartment of Quantitative Health Sciences, Division of Epidemiology, Mayo Clinic, USA, Rochester, MN, 55905.
Maxime Van HoudtLeuven Multidisciplinary Breast Center, Department of Oncology, Leuven Cancer Institute, University Hospitals Leuven, Belgium, Leuven, 3000.
Jelle VerhoevenLeuven Multidisciplinary Breast Center, Department of Oncology, Leuven Cancer Institute, University Hospitals Leuven, Belgium, Leuven, 3000.
Clarice R WeinbergBiostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, NIH, USA, Research Triangle Park, NC, 27709.
Alicja WolkInstitute of Environmental Medicine, Karolinska Institutet, Sweden, Stockholm, 171 77.
Taiki YamajiDivision of Epidemiology, National Cancer Center Institute for Cancer Control, Japan, Tokyo, 104-0045.
Cheng Har YipDepartment of Surgery, Faculty of Medicine, University of Malaya, UM Cancer Research Institute, Malaysia, Kuala Lumpur, 50603.
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, USA, Nashville, TN, 37232.
Mikael HartmanSaw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore City, 117549.
Jingmei LiHuman Genetics Division, Genome Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore City, 138672.
Funding
Epidemiologic StudiesU19CA148065 · NCI · HARVARD SCHOOL OF PUBLIC HEALTH · PI AHSAN, HABIBUL, BRUGGE, JOAN SIEFERT · 2010 to 2014
$10.6MNCI NIH HHS U19 CA148065
Abstract
Background: Breast cancer is multifactorial. Focusing on limited risk factors may miss high-risk individuals. Methods: We assessed the performance and overlap of various risk factors in identifying high-risk individuals for invasive breast cancer (BrCa) and ductal carcinoma in situ (DCIS) in 161,849 European-ancestry and 18,549 Asian-ancestry women. Discriminatory ability was evaluated using the area under the receiver operating characteristic curve (AUC). High-risk criteria included: 5-year absolute risk ≥1·66% by the Gail model [GAIL Findings: The 5-year absolute risk by PRS outperformed the Gail model in predicting BrCa (Europeans Interpretation: The incomplete overlap between high-risk individuals identified by PRS
Indexed as
BRCA1BRCA2Breast cancerDuctal Carcinoma In Situ (DCIS)Gail modelPolygenic risk score (PRS)risk-based screeningRisk stratification
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