ArticleJournal of medical genetics2023
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel.
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4 citing papers in PubMed, 5 citations in OpenAlex.
- PRANA: A Deep Learning Method for Adapting Polygenic Risk Scores to Diverse Ethnic Groups.medRxiv : the preprint server for health sciences · 2026Article
- European-based polygenic risk score and genome-wide association study of B-cell non-Hodgkin lymphoma subtypes in Israeli Jews and Palestinian Arabs.British journal of haematology · 2025Article
- Polygenic risk scores in the clinic: Health-system leaders and primary care providers weigh in.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- The predictive capacity of polygenic risk scores for disease risk is only moderately influenced by imputation panels tailored to the target population.Bioinformatics (Oxford, England) · 2024Article
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Authors and funding
142 authors at 20 institutions in 20 countries.
Hagai LeviThe Blavatnik School of Computer Science, Tel Aviv University, Tel Aviv, Israel.
Shai CarmiBraun School of Public Health and Community Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
Saharon RossetDepartment of Statistics and Operations Research, Tel Aviv University, Tel Aviv, Israel.
Rinat YerushalmiInstitute of Oncology, Davidoff Cancer Center, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel.
Aviad ZickDepartment of oncology, Hadassah Medical Center, Jerusalem, Israel.
Tamar Yablonski-PeretzDepartment of oncology, Hadassah Medical Center, Jerusalem, Israel.
BCAC Consortium
Qin WangCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Manjeet K BollaCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Joe DennisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Kyriaki MichailidouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID 0000-0001-7065-1237
Michael LushCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Thomas AhearnDivision of Cancer Epidemiology and Genetics, 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, Ontario, Canada.
Hoda Anton-CulverDepartment of Medicine, Genetic Epidemiology Research Institute, University of California Irvine, Irvine, CA, USA.
Antonis C AntoniouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID 0000-0001-9223-3116
Volker ArndtDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Annelie AugustinssonOncology, Department of Clinical Sciences in Lund, Lund University, Lund, Sweden.
Päivi AuvinenTranslational Cancer Research Area, University of Eastern Finland, Kuopio, Finland.
Laura Beane FreemanDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Matthias BeckmannDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.
Sabine BehrensDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Marina BermishevaInstitute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of Sciences, Ufa, Russia.
Clara BodelonDepartment of Population Science, American Cancer Society, Atlanta, GA, USA.
Natalia V BogdanovaDepartment of Radiation Oncology, Hannover Medical School, Hannover, Germany.
Stig E BojesenCopenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
Hermann BrennerDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Helen ByersNorth West Genomics Laboratory Hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
Nicola CampDepartment of Internal Medicine and Huntsman Cancer Institute, University of Utah, Salt lake city, UT, USA.
Jose CastelaoOncology and Genetics Unit, Instituto de Investigación Sanitaria Galicia Sur (IISGS), Xerencia de Xestion Integrada de Vigo-SERGAS, Vigo, Spain.
Jenny Chang-ClaudeDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
María-Dolores ChirlaqueCIBER of Epidemiology and Public Health (CIBERESP), Madrid, Spain.
Wendy ChungDepartments of Pediatrics and Medicine, Columbia University, New York, NY, USA.
Christine ClarkeWestmead Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
NBCS Collaborators
Margriet J ColleeDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands.
Sarah ColonnaDepartment of Internal Medicine and Huntsman Cancer Institute, University of Utah, Salt lake city, UT, USA.
CTS Consortium
Fergus CouchDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Angela CoxDepartment of Oncology and Metabolism, Sheffield Institute for Nucleic Acids (SInFoNiA), University of Sheffield, Sheffield, UK.
Simon S CrossAcademic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, UK.
Kamila CzeneDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Mary DalyDepartment of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA, USA.
Peter DevileeDepartment of Pathology, Leiden University Medical Center, Leiden, Netherlands.ORCID 0000-0002-8023-2009
Thilo DorkGynaecology Research Unit, Hannover Medical School, Hamburg, Germany.
Laure DossusNutrition and Metabolism Section, International Agency for Research on Cancer (IARC-WHO), Lyon, France.
Diana M EcclesCancer Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.ORCID 0000-0002-9935-3169
A Heather EliassenChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Mikael ErikssonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Gareth EvansNorth West Genomics Laboratory Hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
Peter FaschingDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, Friedrich-Alexander University Erlangen-Nuremberg, 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, Western Australia, Australia.
Marike GabrielsonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Manuela Gago-DominguezGenomic Medicine Group, International Cancer Genetics and Epidemiology Group, Fundación Pública Galega de Medicina Xenómica, Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, Santiago de Compostela, Spain.
Montserrat García-ClosasDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Jose Angel Garcia-SaenzMedical Oncology, Hospital Clinico San Carlos, Madrid, Spain, USA.
Jeanine GenkingerDepartment of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA.
Graham G GilesCancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Victoria, Australia.
Mark GoldbergDepartment of Medicine, McGill University, Montreal, Quebec, Canada.
Pascal GuénelTeam 'Exposome and Heredity', CESP, Gustave Roussy, INSERM, University Paris-Saclay, UVSQ, Villejuif, France.
Per HallDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Ute HamannMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Wei HeDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Peter HillemannsGynaecology Research Unit, Hannover Medical School, Hamburg, Germany.
Antoinette HollestelleMedical Oncology, Erasmus Medical Center, Rotterdam, Netherlands.
Reiner HoppeDr Margarete Fischer Bosch Institute of Clinical Pharmacology, Stuttgart, Germany.
John HopperCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.
ABCTB Investigators
Simona JakovchevskaResearch Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', Skopje, North Macedonia.
Anna JakubowskaDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Helena JernströmOncology, Department of Clinical Sciences in Lund, Lund University, Lund, Sweden.
Esther JohnDepartment of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, USA.
Nichola JohnsonThe Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, UK.
Michael JonesDivision of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, UK.
Joseph VijaiClinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Rudolf KaaksDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Elza KhusnutdinovaInstitute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of Sciences, Ufa, Russia.
Cari KitaharaRadiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Stella KoutrosDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Vessela KristensenInstitute of Clinical Medicine, Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
Allison W KurianDepartment of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, USA.
James 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.
Loic Le MarchandEpidemiology Program, University of Hawaii Cancer Center, Honolulu, HI, USA.
Flavio LejbkowiczClalit National Cancer Control Center, Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel.
Annika LindblomMolecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Sibylle LoiblGerman Breast Group, GmbH, Neu Isenburg, Germany.
Adriana LoriDepartment of Population Science, American Cancer Society, Atlanta, GA, USA.
Jan LubinskiDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Arto MannermaaTranslational Cancer Research Area, University of Eastern Finland, Kuopio, Finland.
Mehdi ManoochehriMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
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, UK.
AnnaMarie MulliganDepartment of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Rachel MurphySchool of Population and Public Health, University of British Columbia, Vancouver, BC, Canada.
Ines NevelsteenLeuven Multidisciplinary Breast Center, Department of Oncology, Leuven Cancer Institute, University Hospitals Leuven, Leuven, Belgium.
William G NewmanNorth West Genomics Laboratory Hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.ORCID 0000-0002-6382-4678
Nadia ObiInstitute for Medical Biometry and Epidemiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Katie O'BrienEpidemiology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC, USA.
Ken OffitClinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Andrew OlshanDepartment of Epidemiology, Gillings School of Global Public Health and UNC Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Dijana Plaseska-KaranfilskaResearch Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', Skopje, North Macedonia.
Janet OlsonDepartment of Quantitative Health Sciences, Division of Epidemiology, Mayo Clinic, Rochester, MN, USA.
Salvatore PanicoDipertimento Di Medicina Clinca e Chirurgia, Federico II University, Naples, Italy.
Tjoung-Won Park-SimonGynaecology Research Unit, Hannover Medical School, Hamburg, Germany.
Alpa PatelDepartment of Population Science, American Cancer Society, Atlanta, GA, USA.
Paolo PeterlongoGenome Diagnostics Program, IFOM ETS - the AIRC Institute of Molecular Oncology, Milan, Italy.
Brigitte RackDepartment of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany.
Paolo RadiceUnit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy.ORCID 0000-0001-6298-4111
Gad RennertClalit National Cancer Control Center, Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel.
Valerie RheniusCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Atocha RomeroLaboratorio de Oncología Molecular, Hospital Clínico San Carlos, Madrid, Spain.
Emmanouil SaloustrosDepartment of Oncology, University Hospital of Larissa, Larissa, Greece.
Dale SandlerEpidemiology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC, USA.
Marjanka K SchmidtDivision of Molecular Pathology, The Netherlands Cancer Institute, Amsterdam, Netherlands.
Lukas SchwentnerDepartment of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany.
Mitul ShahCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Priyanka SharmaDepartment of Internal Medicine, Division of Medical Oncology, University of Kansas Medical Center, Westwood, KS, USA.
Jacques SimardGenomics Center, Molecular Medicine, Université Laval, Quebec, Quebec, Canada.
Melissa SoutheyCancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Victoria, Australia.
Jennifer StoneCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.
William J TapperCancer Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
Jack TaylorEpidemiology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC, USA.
Lauren TerasDepartment of Population Science, American Cancer Society, Atlanta, GA, USA.
Amanda E TolandDepartment of Cancer Biology and Genetics, The Ohio State University, Columbus, OH, USA.
Melissa TroesterDepartment of Epidemiology, Gillings School of Global Public Health and UNC Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Thérèse TruongTeam 'Exposome and Heredity', CESP, Gustave Roussy, INSERM, University Paris-Saclay, UVSQ, Villejuif, France.
Lizet E van der KolkFamily Cancer Clinic, The Netherlands Cancer Institute, Amsterdam, Netherlands.
Clarice WeinbergBiostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC, USA.
Camilla WendtDepartment of Clinical Science and Education, Karolinska Institutet, Stockholm, Sweden.
Xiaohong Rose YangDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Wei ZhengDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA.
Argyrios ZiogasDepartment of Medicine, Genetic Epidemiology Research Institute, University of California Irvine, Irvine, CA, USA.
Alison M DunningCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Paul PharoahCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Shay Ben-SacharSackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Naama ElefantClalit Research Institute, Clalit Health Services, Ramat Gan, Israel ranel@tauex.tau.ac.il rshamir@tau.ac.il naamael1@clalit.org.il.
Ron ShamirThe Blavatnik School of Computer Science, Tel Aviv University, Tel Aviv, Israel ranel@tauex.tau.ac.il rshamir@tau.ac.il naamael1@clalit.org.il.
Ran ElkonDepartment of Human Molecular Genetics and Biochemistry, Tel Aviv University, Tel Aviv, Israel ranel@tauex.tau.ac.il rshamir@tau.ac.il naamael1@clalit.org.il.ORCID 0000-0003-3440-1286
University of Cambridge · GBGerman Cancer Research Center · DENational Institutes of Health · USThe University of Melbourne · AUTel Aviv University · ILAmerican Cancer Society · USInstitute of Cancer Research · GBInserm · FRKarolinska Institutet · SEManchester Academic Health Science Centre · GBMedizinische Hochschule Hannover · DEMemorial Sloan Kettering Cancer Center · USUniversity of North Carolina at Chapel Hill · USErasmus MC · NLHebrew University of Jerusalem · ILHospital Clínico San Carlos · ESUniversity of Utah · USBC Cancer Agency · CABrigham and Women's Hospital · USCarmel Medical Center · IL
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Hongbiao Carl Lekaye · 1985 to 2026
$347.4MTumor Immunology and Microenvironment Research ProgramP30CA068485 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI STACIE B DUSETZINA · 1995 to 2026
$172.8MVIRAL MALIGNANCYP30CA023100 · NCI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Jesse Nodora · 1985 to 2026
$124.9MTransgenic Mouse FacilityP30CA033572 · NCI · CITY OF HOPE/BECKMAN RESEARCH INSTITUTE · PI XIWEI WU · 1985 to 2026
$86.3MStatistical MethodsP01CA087969 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI ROSNER, BERNARD A · 2000 to 2019
$77.8MSouthern Community Cohort StudyR01CA092447 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BLOT, WILLIAM J., ZHENG, WEI · 2001 to 2015
$74.0MTissue Procurement & PathologyP50CA058223 · NCI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI CHARLES M PEROU · 1992 to 2026
$59.3MUniv.of Calif., Irvine Cancer Center Support GrantP30CA062203 · NCI · UNIVERSITY OF CALIFORNIA-IRVINE · PI Melanie Funes · 1994 to 2026
$57.9MThe Role of CHFR in Tumorigenesis and Paclitaxel-Sensitivity in Breast CancerP50CA116201 · NCI · MAYO CLINIC ROCHESTER · PI Fergus Joseph Couch · 2005 to 2026
$49.9MUnderstanding Population Differences in Cancer: The MEC StudyU01CA164973 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI HAIMAN, CHRISTOPHER ALAN, LE MARCHAND, LOIC · 2015 to 2025
$37.4MUNC-CH CENTER FOR ENVIRONMENTAL HEALTH &SUSCEPTIBILITYP30ES010126 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Stephanie Engel · 2001 to 2026
$36.3MCALIFORNIA TEACHERS STUDYR01CA077398 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI BERNSTEIN, LESLIE · 1998 to 2014
$29.7MCancer Research UK 14136Intramural NIH HHS Z01 CP010119Intramural NIH HHS Z01 ES044005Intramural NIH HHS Z01 ES049030Intramural NIH HHS Z01 ES049033Medical Research Council G1000143Medical Research Council MC_UU_00004/01NCCDPHP CDC HHS NU58DP006344NCI NIH HHS HHSN261201800009CNCI NIH HHS HHSN261201800009INCI NIH HHS HHSN261201800015CNCI NIH HHS HHSN261201800015INCI NIH HHS HHSN261201800016CNCI NIH HHS HHSN261201800016INCI NIH HHS HHSN261201800032CNCI NIH HHS HHSN261201800032INCI NIH HHS K07 CA092044NCI NIH HHS P01 CA087969NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA023100NCI NIH HHS P30 CA033572NCI NIH HHS P30 CA062203NCI NIH HHS P30 CA068485NCI NIH HHS P50 CA058223NCI NIH HHS P50 CA116201NCI NIH HHS R01 CA047147NCI NIH HHS R01 CA047305NCI NIH HHS R01 CA054281NCI NIH HHS R01 CA058860NCI NIH HHS R01 CA063464NCI NIH HHS R01 CA064277NCI NIH HHS R01 CA069664NCI NIH HHS R01 CA077398NCI NIH HHS R01 CA092447NCI NIH HHS R01 CA100374NCI NIH HHS R01 CA116167NCI NIH HHS R01 CA128978NCI NIH HHS R01 CA132839NCI NIH HHS R01 CA148667NCI NIH HHS R01 CA163353NCI NIH HHS R01 CA176785NCI NIH HHS R01 CA192393NCI NIH HHS R35 CA253187NCI NIH HHS R37 CA054281NCI NIH HHS R37 CA070867NCI NIH HHS U01 CA058860NCI NIH HHS U01 CA063464NCI NIH HHS U01 CA098758NCI NIH HHS U01 CA164920NCI NIH HHS U01 CA164973NCI NIH HHS U01 CA179715NCI NIH HHS U01 CA199277NCI NIH HHS U19 CA148065NCI NIH HHS U19 CA148112NCI NIH HHS U19 CA148537NCI NIH HHS U54 CA156733NCI NIH HHS UM1 CA164917NCI NIH HHS UM1 CA164920NCI NIH HHS UM1 CA164973NCI NIH HHS UM1 CA176726NCI NIH HHS UM1 CA186107NIEHS NIH HHS P30 ES010126Wellcome TrustWorld Health Organization 001
Abstract
backgroundPolygenic risk score (PRS), calculated based on genome-wide association studies (GWASs), can improve breast cancer (BC) risk assessment. To date, most BC GWASs have been performed in individuals of European (EUR) ancestry, and the generalisation of EUR-based PRS to other populations is a major challenge. In this study, we examined the performance of EUR-based BC PRS models in Ashkenazi Jewish (AJ) women.
methodsWe generated PRSs based on data on EUR women from the Breast Cancer Association Consortium (BCAC). We tested the performance of the PRSs in a cohort of 2161 AJ women from Israel (1437 cases and 724 controls) from BCAC (BCAC cohort from Israel (BCAC-IL)). In addition, we tested the performance of these EUR-based BC PRSs, as well as the established 313-SNP EUR BC PRS, in an independent cohort of 181 AJ women from Hadassah Medical Center (HMC) in Israel.
resultsIn the BCAC-IL cohort, the highest OR per 1 SD was 1.56 (±0.09). The OR for AJ women at the top 10% of the PRS distribution compared with the middle quintile was 2.10 (±0.24). In the HMC cohort, the OR per 1 SD of the EUR-based PRS that performed best in the BCAC-IL cohort was 1.58±0.27. The OR per 1 SD of the commonly used 313-SNP BC PRS was 1.64 (±0.28).
conclusionsExtant EUR GWAS data can be used for generating PRSs that identify AJ women with markedly elevated risk of BC and therefore hold promise for improving BC risk assessment in AJ women.
Indexed as
Breast NeoplasmsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansIsraelJewsMultifactorial InheritanceRisk FactorsTranscription FactorsTranscription FactorsGenomicsPolymorphism, Genetic
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