Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel
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Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel. / 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; Freeman, Laura Beane; 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; Flyger, Henrik; The BCAC Consortium; NBCS Collaborators; CTS Consortium; ABCTB Investigators.
I: Journal of Medical Genetics, Bind 60, Nr. 12, 2023.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel
AU - Levi, Hagai
AU - Carmi, Shai
AU - Rosset, Saharon
AU - Yerushalmi, Rinat
AU - Zick, Aviad
AU - Yablonski-Peretz, Tamar
AU - Wang, Qin
AU - Bolla, Manjeet K.
AU - Dennis, Joe
AU - Michailidou, Kyriaki
AU - Lush, Michael
AU - Ahearn, Thomas
AU - Andrulis, Irene L.
AU - Anton-Culver, Hoda
AU - Antoniou, Antonis C.
AU - Arndt, Volker
AU - Augustinsson, Annelie
AU - Auvinen, Päivi
AU - Freeman, Laura Beane
AU - Beckmann, Matthias
AU - Behrens, Sabine
AU - Bermisheva, Marina
AU - Bodelon, Clara
AU - Bogdanova, Natalia V.
AU - Bojesen, Stig E.
AU - Brenner, Hermann
AU - Byers, Helen
AU - Camp, Nicola
AU - Castelao, Jose
AU - Chang-Claude, Jenny
AU - Chirlaque, María Dolores
AU - Chung, Wendy
AU - Clarke, Christine
AU - Collee, Margriet J.
AU - Colonna, Sarah
AU - Couch, Fergus
AU - Cox, Angela
AU - Cross, Simon S.
AU - Czene, Kamila
AU - Daly, Mary
AU - Devilee, Peter
AU - Dork, Thilo
AU - Dossus, Laure
AU - Eccles, Diana M.
AU - Eliassen, A. Heather
AU - Eriksson, Mikael
AU - Evans, Gareth
AU - Fasching, Peter
AU - Flyger, Henrik
AU - The BCAC Consortium
AU - NBCS Collaborators
AU - CTS Consortium
AU - ABCTB Investigators
N1 - Publisher Copyright: © Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ.
PY - 2023
Y1 - 2023
N2 - To date, most BC GWASs have been performed Background Polygenic risk score (PRS), calculated in individuals of European (EUR) ancestry, and based on genome-wide association studies (GWASs), the generalisation of EUR-based PRS to other can improve breast cancer (BC) risk assessment. 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.
AB - To date, most BC GWASs have been performed Background Polygenic risk score (PRS), calculated in individuals of European (EUR) ancestry, and based on genome-wide association studies (GWASs), the generalisation of EUR-based PRS to other can improve breast cancer (BC) risk assessment. 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.
KW - Genomics
KW - Polymorphism, Genetic
U2 - 10.1136/jmg-2023-109185
DO - 10.1136/jmg-2023-109185
M3 - Journal article
C2 - 37451831
AN - SCOPUS:85171799066
VL - 60
JO - Journal of Medical Genetics
JF - Journal of Medical Genetics
SN - 0022-2593
IS - 12
ER -
ID: 368621659