| Title: |
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel |
| Authors: |
Levi, Hagai; Carmi, Shai; Rosset, Saharon; Yerushalmi, Rinat; Zick, Aviad; Yablonski-Peretz, Tamar; Wang, Qin; Bolla, Manjeet K; Dennis, Joe; Michailidou, Kyriaki; Lush, Michael; Ahearn, Thomas; Andrulis, Irene L; Anton-Culver, Hoda; Antoniou, Antonis C; Arndt, Volker; Augustinsson, Annelie; Auvinen, Päivi; Beane Freeman, Laura; Beckmann, Matthias; Behrens, Sabine; Bermisheva, Marina; Bodelon, Clara; Bogdanova, Natalia V; Bojesen, Stig E; Brenner, Hermann; Byers, Helen; Camp, Nicola; Castelao, Jose; Chang-Claude, Jenny; Chirlaque, María-Dolores; Chung, Wendy; Clarke, Christine; Collee, Margriet J; Colonna, Sarah; Couch, Fergus; Cox, Angela; Cross, Simon S; Czene, Kamila; Daly, Mary; Devilee, Peter; Dork, Thilo; Dossus, Laure; Eccles, Diana M; Eliassen, A. Heather; Eriksson, Mikael; Evans, Gareth; Fasching, Peter; Fletcher, Olivia; Flyger, Henrik |
| Contributors: |
Consellería de Industria Programa Sectorial de Investigación Aplicada; Statistics Netherlands; South Eastern Norway Health Authority; Lower Saxonian Cancer Society; Lise Boserup Fund; Heidelberger Zentrum für Personalisierte Onkologie Deutsches Krebsforschungszentrum In Der Helmholtz-Gemeinschaft; Lon V. Smith Foundation; Scottish Funding Council; Komen Foundation; Claudia von Schilling Foundation for Breast Cancer Research; Russian Foundation for Basic Research; Ligue Contre le Cancer; Sigrid Juselius Foundation; Kuopion Yliopistollinen Sairaala; Sheffield Experimental Cancer Medicine Centre; Stockholm läns landsting; Department of Health and Human Services; Department of Defence; Stichting Tegen Kanker; David F. and Margaret T. Grohne Family Foundation; Sundhed og Sygdom, Det Frie Forskningsråd; Stavros Niarchos Foundation; Post-Cancer GWAS initiative; Institute of the Ruhr University Bochum; Instituto de Salud Carlos III; Institute of Cancer Research; Public Health Institute; Fondation du cancer du sein du Québec; Institut National de la Santé et de la Recherche Médicale; Pink Ribbon; Cancer Research UK; Institute for Prevention and Occupational Medicine; K.G. Jebsen Centre for Breast Cancer Research; Research Centre for Genetic Engineering and Biotechnology; Center of Excellence; Robert and Kate Niehaus Clinical Cancer Genetics Initiative; Rudolf Bartling Foundation; Center for Disease Control and Prevention; Karolinska Institutet; Norges Forskningsråd; Robert Bosch Stiftung; Intramural Research Funds of the National Cancer Institute; Regional Governments of Andalucía, Asturias, Basque Country, Murcia and Navarra, ISCIII RETIC; Intramural Research Program of the Division of Cancer Epidemiology and Genetics; Centre International de Recherche sur le Cancer; Queensland Cancer Fund; Red Temática de Investigación Cooperativa en Cáncer; Intramural Research Program of the National Institutes of Health; National Health Service; Ministerie van Volksgezondheid, Welzijn en Sport; National cancer institute; KWF Kankerbestrijding; Märit and Hans Rausings Initiative Against Breast Cancer; Associazione Italiana per la Ricerca sul Cancro; Fundación Científica Asociación Española Contra el Cáncer; ERC advanced grant; Australian National Health and Medical Research Council; Agence Nationale de la Recherche; Dutch Prevention Funds; Agence Nationale de Sécurité Sanitaire de l'Alimentation, de l'Environnement et du Travail; American Cancer Society; Dutch Zorg Onderzoek; Alexander von Humboldt-Stiftung; Ministerio de Economia y Competitividad; Ministère du Développement Économique, de l’Innovation et de l’Exportation; Susan G. Komen for the Cure; Minister of Science and Higher Education; Medical Research Council UK; Ministry of Science and Higher Education of the Russian Federation; Ministry of Science and Higher Education; Against Breast Cancer; Mutuelle Générale de l’Education Nationale; Academy of Finland; Deutsche Krebshilfe e.V.; Dietmar-Hopp Foundation; Division of Cancer Prevention, National Cancer Institute; Deutsche Krebshilfe; World Cancer Research Fund; Genome Québec; National Cancer Institute’s Surveillance, Epidemiology and End Results Program; Breast Cancer Campaign; National Cancer Research Network; Berta Kamprad Foundation FBKS; Wellcome Trust; Bert von Kantzows foundation; Biomedical Research Centre at Guy’s and St Thomas; Genome Canada; Freistaat Sachsen; Biobanking and Biomolecular Resources Research Infrastructure; Friends of Hannover Medical School; Breast Cancer Research Foundation; California Department of Public Health; Government of Russian Federation; Deutsche Forschungsgemeinschaft; National Institute for Health and Care Research; National Health and Medical Research Council; German Federal Ministry of Research and Education; National Institute of Environmental Health Sciences; Breast Cancer Now; Seventh Framework Programme; Transcan; Centrum för idrottsforskning; UK National Institute for Health Research Biomedical Research Centre; University of Crete; National Breast Cancer Foundation; European Regional Development Fund; United States Army Medical Research and Materiel Command; EU Horizon 2020 Research and Innovation Programme; Directorate-General XII, Science, Research, and Development; Baden Württemberg Ministry of Science, Research and Arts; VicHealth; Fondo de Investigación Sanitario; Victorian Breast Cancer Research Consortium.; Finnish Cancer Foundation; University of Southern California San Francisco; Fomento de la Investigación Clínica Independiente; the Cancer Biology Research Center (CBRC), Djerassi Oncology Center; Bundesministerium für Bildung und Forschung; Cancerfonden; Tel Aviv University Center for AI and Data Science; University of Oulu; Safra Center for Bioinformatics; Fondation de France, Institut National du Cancer; Israeli Science Foundation; University of Utah; National Cancer Center Research and Development Fund; Chief Scientist Office, Scottish Government Health and Social Care Directorate; Oak Foundation; Health Research Fund; Ontario Familial Breast Cancer Registry; New South Wales Cancer Council; North Carolina University Cancer Research Fund; Kreftforeningen; Northern California Breast Cancer Family Registry; Institut Gustave Roussy; Huntsman Cancer Institute, University of Utah; Ovarian Cancer Research Fund; NIHR Oxford Biomedical Research Centre; Hellenic Health Foundation; Oulun Yliopistollinen Sairaala; Helmholtz Society; Herlev and Gentofte Hospital; PSRSIIRI-701; Helsinki University Hospital Research Fund; Cancer Council Victoria; National Research Council; Cancer Council Tasmania; Cancer Council Western Australia; Hamburger Krebsgesellschaft; Gustav V Jubilee foundation; National Program of Cancer Registries; Canadian Cancer Society; Cancer Council South Australia; Canadian Institutes of Health Research; Cancer Council NSW; Guy's & St. Thomas' NHS Foundation Trust; Netherlands Organisation of Scientific Research; Cancer Institute NSW; National Institutes of Health; National Research Foundation of Korea; Syöpäsäätiö; Cancer Foundation of Western Australia; Netherlands Cancer Registry (NKR); Cancer Fund of North Savo |
| Source: |
Journal of Medical Genetics ; volume 60, issue 12, page 1186-1197 ; ISSN 0022-2593 1468-6244 |
| Publisher Information: |
BMJ |
| Publication Year: |
2023 |
| Description: |
Background Polygenic 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. Methods We 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. Results In 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). Conclusions Extant 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. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1136/jmg-2023-109185 |
| Availability: |
https://doi.org/10.1136/jmg-2023-109185; https://syndication.highwire.org/content/doi/10.1136/jmg-2023-109185 |
| Rights: |
https://creativecommons.org/licenses/by/4.0/ |
| Accession Number: |
edsbas.79CD5FC8 |
| Database: |
BASE |