ArticleBreast cancer research : BCR2024
Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction.
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Article in Breast cancer research : BCR, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15citing papers in PubMed
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Who cites it
15 citing papers in PubMed.
- Polygenic risk scores in cancer.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- AGO Recommendations for the Diagnosis and Treatment of Patients with Early Breast Cancer: Update 2026.Breast care (Basel, Switzerland) · 2026Review
- Performance of different polygenic risk scores for breast cancer risk prediction: in-depth evaluations across large UK and Australian cohorts.European journal of human genetics : EJHG · 2026Article
- Polygenic risk scores: Navigating the future of precision medicine through economic, ethical, and scientific advancements.iScience · 2026Review
- Genomic platform specific polygenic risk scores impact breast cancer risk stratification.Communications medicine · 2025Article
- Article
- Polygenic scores in Familial breast cancer cases with and without pathogenic variants and the risk of contralateral breast cancer.Breast cancer research : BCR · 2025Article
- Polygenic prediction of body mass index and obesity through the life course and across ancestries.Nature medicine · 2025Article
- Article
- AGO Recommendations for the Diagnosis and Treatment of Patients with Early Breast Cancer: Update 2025.Breast care (Basel, Switzerland) · 2025Review
- Associations Between DNA Repair Gene Polymorphisms and Breast Cancer Histopathological Subtypes: A Preliminary Study.Journal of clinical medicine · 2025Article
- Update Breast Cancer 2024 Part 2 - Patients with Early Stage Breast Cancer.Geburtshilfe und Frauenheilkunde · 2025Article
- Overlap of high-risk individuals across family history, genetic & non-genetic breast cancer risk models: Analysis of 180,398 women from European & Asian ancestries.medRxiv : the preprint server for health sciences · 2025Article
- Polygenic risk scores stratify breast cancer risk among women with benign breast disease.Journal of the National Cancer Institute · 2025Article
- Polygenic Risk Score (PRS) Combined with NGS Panel Testing Increases Accuracy in Hereditary Breast Cancer Risk Estimation.Diagnostics (Basel, Switzerland) · 2024Article
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Authors and funding
130 authors.
Kristia YiangouBiostatistics Unit, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, Nicosia, Cyprus.
Nasim MavaddatDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Joe DennisDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Maria ZantiBiostatistics Unit, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, Nicosia, Cyprus.
Qin WangDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Manjeet K BollaDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Mustapha AbubakarDivision of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Thomas U AhearnDivision of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Irene L AndrulisFred A, Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada.
Hoda Anton-CulverDepartment of Medicine, Genetic Epidemiology Research Institute, University of California Irvine, Irvine, CA, USA.
Natalia N AntonenkovaNN Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus.
Volker ArndtDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Kristan J AronsonDepartment of Public Health Sciences, and Cancer Research Institute, Queen's University, Kingston, ON, Canada.
Annelie AugustinssonOncology, Clinical Sciences in Lund, Lund University, Lund, Sweden.
Adinda BatenDepartment of Oncology, Leuven Multidisciplinary Breast Center, Leuven Cancer Institute, University Hospitals Leuven, Leuven, Belgium.
Sabine BehrensDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Marina BermishevaInstitute of Biochemistry and Genetics of the Ufa Federal Research Centre of the Russian Academy of Sciences, Ufa, Russia.
Amy Berrington de GonzalezDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Katarzyna BiałkowskaDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Nicholas BoddickerDepartment of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
Clara BodelonDepartment of Population Science, American Cancer Society, Atlanta, GA, USA.
Natalia V BogdanovaNN Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus.
Stig E BojesenCopenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
Kristen D BrantleyDepartment of Epidemiology, Harvard TH Chan School of Public Health, Boston, MA, USA.
Hiltrud BrauchDr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.
Hermann BrennerDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Nicola J CampDepartment of Internal Medicine and Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA.
Federico CanzianGenomic Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Jose E CastelaoOncology and Genetics Unit, Instituto de Investigacion Sanitaria Galicia Sur-Vigo-Spain, Vigo, Spain.
Melissa H CessnaDepartment of Pathology, Intermountain Healthcare, Salt Lake City, UT, USA.
Jenny Chang-ClaudeDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Georgia Chenevix-TrenchCancer Research Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Wendy K ChungDepartment of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
NBCS Collaborators
Sarah V ColonnaDepartment of Internal Medicine and Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA.
Fergus J CouchDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Angela CoxDivision of Clinical Medicine, School of Medicine and Population Health, University of Sheffield, Sheffield, UK.
Simon S CrossDivision of Neuroscience, School of Medicine and Population Health, University of Sheffield, Sheffield, UK.
Kamila CzeneDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Mary B DalyDepartment of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA, USA.
Peter DevileeDepartment of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
Thilo DörkGynaecology Research Unit, Hannover Medical School, Hannover, Germany.
Alison M DunningDepartment of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Diana M EcclesFaculty of Medicine, University of Southampton, Southampton, UK.
A Heather EliassenDepartment of Epidemiology, Harvard TH Chan School of Public Health, Boston, MA, USA.
Christoph EngelInstitute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
Mikael ErikssonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
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, Manchester, UK.
Peter A FaschingDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, Friedrich-Alexander University Erlangen-Nuremberg, University Hospital Erlangen, Erlangen, Germany.
Olivia FletcherThe Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, UK.
Henrik FlygerDepartment of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
Lin FritschiSchool of Population Health, Curtin University, Perth, WA, Australia.
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, Santiago de Compostela, Spain.
Aleksandra Gentry-MaharajMRC Clinical Trials Unit, Institute of Clinical Trials and Methodology, University College London, London, UK.
Anna González-NeiraHuman Genotyping Unit-CeGen, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Pascal GuénelTeam 'Exposome and Heredity', CESP, Gustave Roussy, INSERM, University Paris-Saclay, UVSQ, Villejuif, France.
Eric HahnenCenter for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Christopher A HaimanDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Ute HamannMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Jaana M HartikainenCancer RC, University of Eastern Finland, Kuopio, Finland.
Vikki HoHealth Innovation and Evaluation Hub, Université de Montréal Hospital Research Centre (CRCHUM), Montréal, QC, Canada.
James HodgeDepartment of Population Science, American Cancer Society, Atlanta, GA, USA.
Antoinette HollestelleDepartment of Medical Oncology, Erasmus MC Cancer Institute, 3015 GD, Rotterdam, The Netherlands.
Ellen HonischDepartment of Gynecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany.
Maartje J HooningDepartment of Medical Oncology, Erasmus MC Cancer Institute, 3015 GD, Rotterdam, The Netherlands.
Reiner HoppeDr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.
John L HopperCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC, Australia.
Sacha HowellDivision of Cancer Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.
Anthony HowellDivision of Cancer Sciences, University of Manchester, Manchester, UK.
ABCTB Investigators
kConFab Investigators
Simona JakovchevskaResearch Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', MASA, Skopje, Republic of North Macedonia.
Anna JakubowskaDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Helena JernströmOncology, Clinical Sciences in Lund, Lund University, Lund, Sweden.
Nichola JohnsonThe Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, UK.
Rudolf KaaksDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Elza K KhusnutdinovaInstitute of Biochemistry and Genetics of the Ufa Federal Research Centre of the Russian Academy of Sciences, Ufa, Russia.
Cari M KitaharaDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD, USA.
Stella KoutrosDivision of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Vessela N KristensenInstitute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
James V LaceyDepartment of Computational and Quantitative Medicine, City of Hope, Duarte, CA, USA.
Diether LambrechtsLaboratory for Translational Genetics, Department of Human Genetics, KU Leuven, Leuven, Belgium.
Flavio LejbkowiczCarmel Medical Center, Haifa, Israel.
Annika LindblomDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Michael LushDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Arto MannermaaInstitute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland.
Dimitrios MavroudisDepartment of Medical Oncology, University Hospital of Heraklion, Heraklion, Greece.
Usha MenonMRC Clinical Trials Unit, Institute of Clinical Trials and Methodology, University College London, London, UK.
Rachel A MurphySchool of Population and Public Health, University of British Columbia, Vancouver, BC, Canada.
Heli NevanlinnaDepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Nadia ObiInstitute for Occupational and Maritime Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Kenneth OffitClinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Tjoung-Won Park-SimonGynaecology Research Unit, Hannover Medical School, Hannover, Germany.
Alpa V PatelDepartment of Population Science, American Cancer Society, Atlanta, GA, USA.
Cheng PengChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Paolo PeterlongoGenome Diagnostics Program, IFOM ETS - The AIRC Institute of Molecular Oncology, Milan, Italy.
Guillermo PitaHuman Genotyping Unit-CeGen, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Dijana Plaseska-KaranfilskaResearch Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', MASA, Skopje, Republic of North Macedonia.
Katri PylkäsLaboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Oulu, Finland.
Paolo RadiceUnit of Predictive Medicine, Molecular Bases of Genetic Risk, Department of Experimental Oncology, Fondazione IRCCS Istituto Nazionale Dei Tumori (INT), Milan, Italy.
Muhammad U RashidMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Gad RennertTechnion, Faculty of Medicine and Association for Promotion of Research in Precision Medicine, Haifa, Israel.
Eleanor RobertsDivision of Cancer Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.
Juan RodriguezDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Atocha RomeroMedical Oncology Department, Hospital Universitario Puerta de Hierro, Madrid, Spain.
Efraim H RosenbergDepartment of Pathology, The Netherlands Cancer Institute - Antoni Van Leeuwenhoek Hospital, Amsterdam, The Netherlands.
Emmanouil SaloustrosDepartment of Oncology, University Hospital of Larissa, Larissa, Greece.
Dale P SandlerEpidemiology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC, USA.
Elinor J SawyerSchool of Cancer and Pharmaceutical Sciences, Comprehensive Cancer Centre, Guy's Campus, King's College London, London, UK.
Rita K SchmutzlerCenter for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Christopher G ScottDepartment of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
Xiao-Ou ShuDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA.
Melissa C SoutheyPrecision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC, Australia.
Jennifer StoneCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC, Australia.
Jack A TaylorEpidemiology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC, USA.
Lauren R TerasDepartment of Population Science, American Cancer Society, Atlanta, GA, USA.
Irma van de BeekDepartment of Clinical Genetics, The Netherlands Cancer Institute - Antoni Van Leeuwenhoek Hospital, Amsterdam, The Netherlands.
Walter WillettDepartment of Epidemiology, Harvard TH Chan School of Public Health, Boston, MA, USA.
Robert WinqvistLaboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Oulu, Finland.
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA.
Celine M VachonDivision of Epidemiology, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
Marjanka K SchmidtDivision of Molecular Pathology, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Per HallDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Robert J MacInnisCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC, Australia.
Roger L MilneCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC, Australia.
Paul D P PharoahDepartment of Computational Biomedicine, Cedars-Sinai Medical Center, West Hollywood, CA, USA.
Jacques SimardGenomics Center, Centre Hospitalier Universitaire de Québec - Université Laval Research Center, Québec City, QC, Canada.
Antonis C AntoniouDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Douglas F EastonDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Kyriaki MichailidouBiostatistics Unit, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, Nicosia, Cyprus. kyriakimi@cing.ac.cy.
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI SELWYN M VICKERS · 1985 to 2026
$347.4MWomen's Cancer ProgramP30CA015083 · NCI · MAYO CLINIC ROCHESTER · PI Lila J. Rutten · 1985 to 2026
$151.3MTraining Program in Cancer EpidemiologyT32CA009001 · NCI · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI A. Heather Eliassen, Meir Stampfer · 1985 to 2026
$17.3MNCI NIH HHS P30 CA008748NCI NIH HHS P30 CA015083NCI NIH HHS T32 CA009001
Abstract
backgroundThe 313-variant polygenic risk score (PRS
methodsWe explored the distribution of PRS
resultsThe mean PRS
conclusionsOur results demonstrate that PRS distribution differs even within European ancestry populations leading to underestimation or overestimation of risk in specific European countries, which could potentially influence clinical management of some individuals if is not appropriately accounted for. Population-specific PRS distributions may be used in breast cancer risk estimation to ensure predicted risks are correctly calibrated across risk categories.
Indexed as
Breast NeoplasmsGenetic Predisposition to DiseaseMultifactorial InheritanceWhite PeopleEuropeFemaleGenome-Wide Association StudyGenotypeHumansMiddle AgedPolymorphism, Single NucleotideRisk AssessmentRisk FactorsBreast cancerPolygenic risk scoresRisk calibrationRisk prediction
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LicenceCC BY-NC-ND
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.