Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction
Our 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.
Authors
- Annelie Augustinsson (ORCID: https://orcid.org/0000-0003-3415-0536)
- Marina Bermisheva (ORCID: https://orcid.org/0000-0002-0584-3969)
- Federico Canzian (ORCID: https://orcid.org/0000-0002-4261-4583)
- Nichola Johnson (ORCID: https://orcid.org/0000-0002-8230-5662)
- Simona Jakovchevska
- Volker Arndt (ORCID: https://orcid.org/0000-0001-9320-8684)
- Angela Cox (ORCID: https://orcid.org/0000-0002-5138-1099)
- Marjanka K. Schmidt (ORCID: https://orcid.org/0000-0002-2228-429X)
- Guillermo Pita (ORCID: https://orcid.org/0000-0003-2393-0510)
- Lin Fritschi (ORCID: https://orcid.org/0000-0002-7692-3560)
- Michael Lush (ORCID: https://orcid.org/0000-0001-5945-3440)
- Hiltrud Brauch (ORCID: https://orcid.org/0000-0001-7531-2736)
- Wei Zheng (ORCID: https://orcid.org/0000-0003-3655-0429)
- Cheng Peng (ORCID: https://orcid.org/0000-0002-0220-5128)
- A. Heather Eliassen (ORCID: https://orcid.org/0000-0002-3961-6609)
- Natalia Bogdanova (ORCID: https://orcid.org/0000-0002-9736-4593)
- Alpa V. Patel (ORCID: https://orcid.org/0000-0001-9997-1218)
- Peter A. Fasching (ORCID: https://orcid.org/0000-0003-4885-8471)
- Wendy K. Chung (ORCID: https://orcid.org/0000-0003-3438-5685)
- Melissa H. Cessna
- Jose E. Castelao (ORCID: https://orcid.org/0000-0001-7110-1376)
- Annika Lindblom (ORCID: https://orcid.org/0000-0001-7675-7569)
- Simon S. Cross (ORCID: https://orcid.org/0000-0003-2044-1754)
- Manuela Gago-Domínguez (ORCID: https://orcid.org/0000-0001-6713-4351)
- Helena Jernström (ORCID: https://orcid.org/0000-0002-2301-5147)
- John L. Hopper (ORCID: https://orcid.org/0000-0002-8567-173X)
- Thilo Dörk (ORCID: https://orcid.org/0000-0002-9458-0282)
- Qin Wang (ORCID: https://orcid.org/0000-0001-7447-1671)
- Jack A. Taylor (ORCID: https://orcid.org/0000-0001-5303-6398)
- Sacha J. Howell (ORCID: https://orcid.org/0000-0001-8141-6515)
- Eleanor Roberts (ORCID: https://orcid.org/0000-0003-2711-1934)
- Lauren R. Teras (ORCID: https://orcid.org/0000-0003-2419-8536)
- Katri Pylkäs (ORCID: https://orcid.org/0000-0002-2449-0521)
- Mustapha Abubakar (ORCID: https://orcid.org/0000-0003-3728-6535)
- Vessela N. Kristensen (ORCID: https://orcid.org/0000-0002-1458-0304)
- Rudolf Kaaks (ORCID: https://orcid.org/0000-0003-3751-3929)
- Christoph Engel (ORCID: https://orcid.org/0000-0002-7247-282X)
- Flavio Lejbkowicz
- Ute Hamann
- Clara Bodelón (ORCID: https://orcid.org/0000-0002-6578-2678)
- Vikki Ho (ORCID: https://orcid.org/0000-0002-0724-7917)
- Pascal Guénel (ORCID: https://orcid.org/0000-0002-8359-518X)
- Cari M. Kitahara (ORCID: https://orcid.org/0000-0001-6416-4432)
- Mikael Eriksson (ORCID: https://orcid.org/0000-0001-8135-4270)
- Antonis C. Antoniou (ORCID: https://orcid.org/0000-0001-9223-3116)
- Alison M. Dunning (ORCID: https://orcid.org/0000-0001-6651-7166)
- Kristia Yiangou (ORCID: https://orcid.org/0009-0005-2559-9747)
- Efraim H. Rosenberg (ORCID: https://orcid.org/0000-0002-3859-6941)
- Anna González‐Neira (ORCID: https://orcid.org/0000-0002-5421-2020)
- Georgia Chenevix‐Trench (ORCID: https://orcid.org/0000-0002-1878-2587)
- Roger Laughlin Milne (ORCID: https://orcid.org/0000-0001-5764-7268)
- Muhammad Usman Rashid (ORCID: https://orcid.org/0000-0002-7684-3122)
- Stella Koutros (ORCID: https://orcid.org/0000-0001-5294-5485)
- James M. Hodge (ORCID: https://orcid.org/0000-0002-6253-7394)
- Robert Winqvist (ORCID: https://orcid.org/0000-0003-0932-9104)
- Thomas U. Ahearn (ORCID: https://orcid.org/0000-0003-0771-7752)
- Kyriaki Michailidou (ORCID: https://orcid.org/0000-0001-7065-1237)
- Douglas F. Easton (ORCID: https://orcid.org/0000-0003-2444-3247)
- Nasim Mavaddat (ORCID: https://orcid.org/0000-0003-0307-055X)
- Irma van de Beek (ORCID: https://orcid.org/0000-0003-1021-171X)
- Rachel A. Murphy (ORCID: https://orcid.org/0000-0003-4383-5641)
- Aleksandra Gentry‐Maharaj (ORCID: https://orcid.org/0000-0001-7270-9762)
- Irene L. Andrulis (ORCID: https://orcid.org/0000-0002-4226-6435)
- Kristen D. Brantley (ORCID: https://orcid.org/0000-0003-0084-4775)
- Katarzyna Białkowska (ORCID: https://orcid.org/0000-0001-8489-6665)
- Sabine Behrens (ORCID: https://orcid.org/0000-0002-9714-104X)
- Per Hall (ORCID: https://orcid.org/0000-0002-5640-9126)
- Amy Berrington de González (ORCID: https://orcid.org/0000-0002-7332-8387)
- Antoinette Hollestelle (ORCID: https://orcid.org/0000-0003-1166-1966)
- Henrik Flyger
- Anna Jakubowska (ORCID: https://orcid.org/0000-0002-5650-0501)
- Sarah V. Colonna (ORCID: https://orcid.org/0000-0002-9026-6990)
- Joe Dennis
- Dale P. Sandler (ORCID: https://orcid.org/0000-0002-6776-0018)
- Jacques Simard (ORCID: https://orcid.org/0000-0001-6906-3390)
- Heli Nevanlinna (ORCID: https://orcid.org/0000-0002-0916-2976)
- Maria Zanti (ORCID: https://orcid.org/0000-0002-0136-9921)
- Emmanouil Saloustros (ORCID: https://orcid.org/0000-0002-0485-0120)
- Adinda Baten (ORCID: https://orcid.org/0000-0001-7104-7808)
- Jennifer Stone (ORCID: https://orcid.org/0000-0001-5077-0124)
- Elinor J. Sawyer (ORCID: https://orcid.org/0000-0001-8285-4111)
- Celine M. Vachon
- Robert J. MacInnis (ORCID: https://orcid.org/0000-0002-1627-5047)
- Nadia Obi (ORCID: https://orcid.org/0000-0002-0903-9142)
- Olivia Fletcher (ORCID: https://orcid.org/0000-0003-4436-5143)
- Nicola J. Camp (ORCID: https://orcid.org/0000-0002-4788-1998)
- Eric Hahnen (ORCID: https://orcid.org/0000-0002-1152-8367)
- Stig E. Bojesen (ORCID: https://orcid.org/0000-0002-4061-4133)
- Tjoung‐Won Park‐Simon (ORCID: https://orcid.org/0000-0002-2863-3040)
- Hermann Brenner (ORCID: https://orcid.org/0000-0002-6129-1572)
- Hoda Anton‐Culver (ORCID: https://orcid.org/0000-0002-9603-0110)
- Diether Lambrechts (ORCID: https://orcid.org/0000-0002-3429-302X)
- Jaana M. Hartikainen (ORCID: https://orcid.org/0000-0001-8267-1905)
- Nicholas Boddicker (ORCID: https://orcid.org/0000-0002-6784-2072)
- Usha Menon (ORCID: https://orcid.org/0000-0003-3708-1732)
- Gad Rennert (ORCID: https://orcid.org/0000-0002-8512-068X)
- Walter Churchill Willett (ORCID: https://orcid.org/0000-0003-1458-7597)
- Atocha Romero (ORCID: https://orcid.org/0000-0002-1634-7397)
- Ellen Honisch
- Xiao‐Ou Shu (ORCID: https://orcid.org/0000-0002-0711-8314)
- D. Gareth Evans (ORCID: https://orcid.org/0000-0002-8482-5784)
- Paul D.P. Pharoah (ORCID: https://orcid.org/0000-0001-8494-732X)
- Melissa C. Southey (ORCID: https://orcid.org/0000-0002-6313-9005)
- Kristan J. Aronson (ORCID: https://orcid.org/0000-0002-7865-7243)
- Juan Rodríguez (ORCID: https://orcid.org/0000-0001-9803-8346)
- Reiner Hoppe (ORCID: https://orcid.org/0000-0003-2213-9612)
- Kamila Czene
- Peter Devilee
- Maartje J. Hooning
- Paolo Peterlongo (ORCID: https://orcid.org/0000-0001-6951-6855)
- Paolo Radice (ORCID: https://orcid.org/0000-0001-6298-4111)
- Natalia Antonenkova
- Jenny Chang‐Claude
- Mary B. Daly
- Kenneth Offit
- Arto Mannermaa
- James V. Lacey (ORCID: https://orcid.org/0000-0002-4560-8592)
- Dimitrios Mavroudis
- Christopher G. Scott
- Fergus J. Couch
- Manjeet K. Bolla (ORCID: https://orcid.org/0000-0002-4351-9326)
- Dijana Plaseska-Karanfilska
- Rita K. Schmutzler
- Elza K. Khusnutdinova
- Christopher A. Haiman
- Diana Eccles (ORCID: https://orcid.org/0000-0002-9935-3169)
Institutions
- Intermountain Healthcare (US)
- University of Southern California (US)
- University of Copenhagen (DK)
- Oslo University Hospital (NO)
- Cedars-Sinai Medical Center (US)
- Brigham and Women's Hospital (US)
- American Cancer Society (US)
- Boston Children's Hospital (US)
- Fox Chase Cancer Center (US)
- BC Cancer Agency (CA)
- Mount Sinai Hospital (CA)
- National Institutes of Health (US)
- Memorial Sloan Kettering Cancer Center (US)
- Karolinska University Hospital (SE)
- University of Helsinki (FI)
- Harvard University (US)
- University of British Columbia (CA)
- Institute of Cancer Research (GB)
- Inserm (FR)
- Universität Hamburg (DE)
- The University of Melbourne (AU)
- St Petersburg University (RU)
- University of Eastern Finland (FI)
- The University of Western Australia (AU)
- German Cancer Research Center (DE)
- University of Cologne (DE)
- King's College London (GB)
- University of Oslo (NO)
- University of Toronto (CA)
- Lund University (SE)
- Université de Versailles Saint-Quentin-en-Yvelines (FR)
- Cancer Council Victoria (AU)
- Vanderbilt University (US)
- University of California, Irvine (US)
- Queen's University (CA)
- Curtin University (AU)
- Lunenfeld-Tanenbaum Research Institute (CA)
- QIMR Berghofer Medical Research Institute (AU)
- University of Utah (US)
- Heidelberg University (DE)
- University of Cambridge (GB)
- Manchester Academic Health Science Centre (GB)
- Breast Cancer Now (GB)
- Leiden University Medical Center (NL)
- Helsinki University Hospital (FI)
- Huntsman Cancer Institute (US)
- Copenhagen University Hospital (DK)
- Gentofte Hospital (DK)
- Karolinska Institutet (SE)
- University of Manchester (GB)
- The Netherlands Cancer Institute (NL)
- Medizinische Hochschule Hannover (DE)
- Universitätsklinikum Erlangen (DE)
- Düsseldorf University Hospital (DE)
- Cancer Research UK Cambridge Center (GB)
- Spanish National Cancer Research Centre (ES)
- MRC Clinical Trials Unit at UCL (GB)
- VIB-KU Leuven Center for Cancer Biology (BE)
- Manchester University NHS Foundation Trust (GB)
- Kuopio University Hospital (FI)
- Centre hospitalier universitaire de Québec (CA)
- Stockholm South General Hospital (SE)
- National Institute of Environmental Health Sciences (US)
- Complejo Hospitalario Universitario de Santiago (ES)
- Centre de recherche en Epidémiologie et Santé des Populations (FR)
- Ufa Institute of Chemistry (RU)
- Hospital Universitario Puerta de Hierro Majadahonda (ES)
- St Mary's Hospital (GB)
- University Hospital of Larissa (GR)
- University Medical Center Hamburg-Eppendorf (DE)
- City of Hope (US)
- Oncode Institute (NL)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Carmel Medical Center (IL)
- IFOM (IT)
- Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology (DE)
- Monash Health (AU)
- Fundación Pública Galega de Medicina Xenómica (ES)
- NordLab (FI)
- Mayo Clinic in Arizona (US)
- University Cancer Center Hamburg (DE)
- Shaukat Khanum Memorial Cancer Hospital and Research Center (PK)
- Cancer Research UK Manchester Institute (GB)
- N.N. Alexandrov National Cancer Centre (BY)
- The Christie Hospital (GB)
- University Hospital of Heraklion (GR)
- National Cancer Institute (US)
- Mayo Clinic in Florida (US)
- Instituto de Investigación Sanitaria de Santiago (ES)
- Comprehensive Cancer Center Erlangen (DE)
- Erasmus MC Cancer Institute (NL)
- Wythenshawe Hospital (GB)
- University Hospital Cologne (DE)
- Fondazione IRCCS Istituto Nazionale dei Tumori (IT)
- Servicio Gallego de Salud (ES)
- MRC Epidemiology Unit (GB)
- Université Laval (CA)
- University of Southampton (GB)
- Division of Cancer Epidemiology and Genetics
- Heinrich Heine University Düsseldorf (DE)
- University College London (GB)
- Cyprus Institute of Neurology and Genetics (CY)
- Monash University (AU)
- Université de Montréal (CA)
- Pomeranian Medical University (PL)
- University of Tübingen (DE)
- University of Sheffield (GB)
- Leipzig University (DE)
- University of Oulu (FI)
- KU Leuven (BE)
Publication Details
- Journal
- Breast Cancer Research
- Published
- 2024-12-29
- DOI
- https://doi.org/10.1186/s13058-024-01947-x
- Citations
- 11
- Primary Topic
- Genetic Associations and Epidemiology
- Type
- article
- Field-Weighted Citation Impact
- 6.05
Funders
- Vanderbilt University
- Vanderbilt-Ingram Cancer Center
- Cedars-Sinai Medical Center
- King's College London
- Universiteit Leiden
- Monash University
- University of Melbourne
- Leids Universitair Medisch Centrum
- Universität zu Köln
- Universitätsklinikum Köln
- National Institutes of Health
- School of Medicine, Vanderbilt University
- Medical Research Council
- Cancer Council Victoria