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Differences in polygenic score distributions in European ancestry populations: implications for breast cancer risk prediction. 2024
Kristia Yiangou, and
Nasim Mavaddat, and
Joe Dennis, and
Maria Zanti, and
Qin Wang, and
Manjeet K Bolla, and
Mustapha Abubakar, and
Thomas U Ahearn, and
Irene L Andrulis, and
Hoda Anton-Culver, and
Natalia N Antonenkova, and
Volker Arndt, and
Kristan J Aronson, and
Annelie Augustinsson, and
Adinda Baten, and
Sabine Behrens, and
Marina Bermisheva, and
Amy Berrington de Gonzalez, and
Katarzyna Białkowska, and
Nicholas Boddicker, and
Clara Bodelon, and
Natalia V Bogdanova, and
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Kristen D Brantley, and
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Hermann Brenner, and
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Federico Canzian, and
Jose E Castelao, and
Melissa H Cessna, and
Jenny Chang-Claude, and
Georgia Chenevix-Trench, and
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Angela Cox, and
Simon S Cross, and
Kamila Czene, and
Mary B Daly, and
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Diana M Eccles, and
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Christoph Engel, and
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Eric Hahnen, and
Christopher A Haiman, and
Ute Hamann, and
Jaana M Hartikainen, and
Vikki Ho, and
James Hodge, and
Antoinette Hollestelle, and
Ellen Honisch, and
Maartje J Hooning, and
Reiner Hoppe, and
John L Hopper, and
Sacha Howell, and
Anthony Howell, and
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Simona Jakovchevska, and
Anna Jakubowska, and
Helena Jernström, and
Nichola Johnson, and
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Elza K Khusnutdinova, and
Cari M Kitahara, and
Stella Koutros, and
Vessela N Kristensen, and
James V Lacey, and
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Flavio Lejbkowicz, and
Annika Lindblom, and
Michael Lush, and
Arto Mannermaa, and
Dimitrios Mavroudis, and
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Rachel A Murphy, and
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Nadia Obi, and
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Eleanor Roberts, and
Juan Rodriguez, and
Atocha Romero, and
Efraim H Rosenberg, and
Emmanouil Saloustros, and
Dale P Sandler, and
Elinor J Sawyer, and
Rita K Schmutzler, and
Christopher G Scott, and
Xiao-Ou Shu, and
Melissa C Southey, and
Jennifer Stone, and
Jack A Taylor, and
Lauren R Teras, and
Irma van de Beek, and
Walter Willett, and
Robert Winqvist, and
Wei Zheng, and
Celine M Vachon, and
Marjanka K Schmidt, and
Per Hall, and
Robert J MacInnis, and
Roger L Milne, and
Paul D P Pharoah, and
Jacques Simard, and
Antonis C Antoniou, and
Douglas F Easton, and
Kyriaki Michailidou
Biostatistics Unit, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus, 2371.
The 313-variant polygenic risk score (PRS313) provides a promising tool for breast cancer risk prediction. However, evaluation of the PRS313 across different European populations which could influence risk estimation has not been performed. Here, we explored the distribution of PRS313 across European populations using genotype data from 94,072 females without breast cancer, of European-ancestry from 21 countries participating in the Breast Cancer Association Consortium (BCAC) and 225,105 female participants from the UK Biobank. The mean PRS313 differed markedly across European countries, being highest in south-eastern Europe and lowest in north-western Europe. Using the overall European PRS313 distribution to categorise individuals leads to overestimation and underestimation of risk in some individuals from south-eastern and north-western countries, respectively. Adjustment for principal components explained most of the observed heterogeneity in mean PRS. Country-specific PRS distributions may be used to calibrate risk categories in individuals from different countries.
| UI | MeSH Term | Description | Entries |
|---|
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Nadia Obi, and
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Alpa V Patel, and
Cheng Peng, and
Paolo Peterlongo, and
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Dijana Plaseska-Karanfilska, and
Katri Pylkäs, and
Paolo Radice, and
Muhammad U Rashid, and
Gad Rennert, and
Eleanor Roberts, and
Juan Rodriguez, and
Atocha Romero, and
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Emmanouil Saloustros, and
Dale P Sandler, and
Elinor J Sawyer, and
Rita K Schmutzler, and
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Xiao-Ou Shu, and
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Irma van de Beek, and
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Marina Bermisheva, and
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Nicholas Boddicker, and
Clara Bodelon, and
Natalia V Bogdanova, and
Stig E Bojesen, and
Kristen D Brantley, and
Hiltrud Brauch, and
Hermann Brenner, and
Nicola J Camp, and
Federico Canzian, and
Jose E Castelao, and
Melissa H Cessna, and
Jenny Chang-Claude, and
Georgia Chenevix-Trench, and
Wendy K Chung, and
, and
Sarah V Colonna, and
Fergus J Couch, and
Angela Cox, and
Simon S Cross, and
Kamila Czene, and
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Thilo Dörk, and
Alison M Dunning, and
Diana M Eccles, and
A Heather Eliassen, and
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D Gareth Evans, and
Peter A Fasching, and
Olivia Fletcher, and
Henrik Flyger, and
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Manuela Gago-Dominguez, and
Aleksandra Gentry-Maharaj, and
Anna González-Neira, and
Pascal Guénel, and
Eric Hahnen, and
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Ute Hamann, and
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Vikki Ho, and
James Hodge, and
Antoinette Hollestelle, and
Ellen Honisch, and
Maartje J Hooning, and
Reiner Hoppe, and
John L Hopper, and
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Cari M Kitahara, and
Stella Koutros, and
Vessela N Kristensen, and
James V Lacey, and
Diether Lambrechts, and
Flavio Lejbkowicz, and
Annika Lindblom, and
Michael Lush, and
Arto Mannermaa, and
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Usha Menon, and
Rachel A Murphy, and
Heli Nevanlinna, and
Nadia Obi, and
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Cheng Peng, and
Paolo Peterlongo, and
Guillermo Pita, and
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Katri Pylkäs, and
Paolo Radice, and
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Gad Rennert, and
Eleanor Roberts, and
Juan Rodriguez, and
Atocha Romero, and
Efraim H Rosenberg, and
Emmanouil Saloustros, and
Dale P Sandler, and
Elinor J Sawyer, and
Rita K Schmutzler, and
Christopher G Scott, and
Xiao-Ou Shu, and
Melissa C Southey, and
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