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000277746 0247_ $$2doi$$a10.1136/jmg-2023-109185
000277746 0247_ $$2pmid$$apmid:37451831
000277746 0247_ $$2ISSN$$a0022-2593
000277746 0247_ $$2ISSN$$a1468-6244
000277746 0247_ $$2altmetric$$aaltmetric:151535445
000277746 037__ $$aDKFZ-2023-01463
000277746 041__ $$aEnglish
000277746 082__ $$a610
000277746 1001_ $$aLevi, Hagai$$b0
000277746 245__ $$aEvaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel.
000277746 260__ $$aLondon$$bBMJ Publishing Group$$c2023
000277746 3367_ $$2DRIVER$$aarticle
000277746 3367_ $$2DataCite$$aOutput Types/Journal article
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000277746 3367_ $$2BibTeX$$aARTICLE
000277746 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000277746 3367_ $$00$$2EndNote$$aJournal Article
000277746 500__ $$a2023 Nov 27;60(12):1186-1197
000277746 520__ $$aPolygenic 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.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.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).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.
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000277746 650_7 $$2Other$$aGenomics
000277746 650_7 $$2Other$$aPolymorphism, Genetic
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