Journal Article

DKFZ-2023-01463

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel.

Levi, H. ; Carmi, S. ; Rosset, S. ; Yerushalmi, R. ; Zick, A. ; Yablonski-Peretz, T. ; Consortium, B. (Collaboration Author) ; Wang, Q. ; Bolla, M. K. ; Dennis, J. ; Michailidou, K. ; Lush, M. ; Ahearn, T. ; Andrulis, I. L. ; Anton-Culver, H. ; Antoniou, A. C. ; Arndt, V.DKFZ* ; Augustinsson, A. ; Auvinen, P. ; Beane Freeman, L. ; Beckmann, M. ; Behrens, S.DKFZ* ; Bermisheva, M. ; Bodelon, C. ; Bogdanova, N. V. ; Bojesen, S. E. ; Brenner, H.DKFZ* ; Byers, H. ; Camp, N. ; Castelao, J. ; Chang-Claude, J.DKFZ* ; Chirlaque, M.-D. ; Chung, W. ; Clarke, C. ; NBCS Collaborators (Collaboration Author) ; Collee, M. J. ; Colonna, S. ; Consortium, C. (Collaboration Author) ; Couch, F. ; Cox, A. ; Cross, S. S. ; Czene, K. ; Daly, M. ; Devilee, P. ; Dork, T. ; Dossus, L. ; Eccles, D. M. ; Eliassen, A. H. ; Eriksson, M. ; Evans, G. ; Fasching, P. ; Fletcher, O. ; Flyger, H. ; Fritschi, L. ; Gabrielson, M. ; Gago-Dominguez, M. ; García-Closas, M. ; Garcia-Saenz, J. A. ; Genkinger, J. ; Giles, G. G. ; Goldberg, M. ; Guénel, P. ; Hall, P. ; Hamann, U.DKFZ* ; He, W. ; Hillemanns, P. ; Hollestelle, A. ; Hoppe, R. ; Hopper, J. ; Investigators, A. (Collaboration Author) ; Jakovchevska, S. ; Jakubowska, A. ; Jernström, H. ; John, E. ; Johnson, N. ; Jones, M. ; Vijai, J. ; Kaaks, R.DKFZ* ; Khusnutdinova, E. ; Kitahara, C. ; Koutros, S. ; Kristensen, V. ; Kurian, A. W. ; Lacey, J. ; Lambrechts, D. ; Le Marchand, L. ; Lejbkowicz, F. ; Lindblom, A. ; Loibl, S. ; Lori, A. ; Lubinski, J. ; Mannermaa, A. ; Manoochehri, M.DKFZ* ; Mavroudis, D. ; Menon, U. ; Mulligan, A. ; Murphy, R. ; Nevelsteen, I. ; Newman, W. G. ; Obi, N. ; O'Brien, K. ; Offit, K. ; Olshan, A. ; Plaseska-Karanfilska, D. ; Olson, J. ; Panico, S. ; Park-Simon, T.-W. ; Patel, A. ; Peterlongo, P. ; Rack, B. ; Radice, P. ; Rennert, G. ; Rhenius, V. ; Romero, A. ; Saloustros, E. ; Sandler, D. ; Schmidt, M. K. ; Schwentner, L. ; Shah, M. ; Sharma, P. ; Simard, J. ; Southey, M. ; Stone, J. ; Tapper, W. J. ; Taylor, J. ; Teras, L. ; Toland, A. E. ; Troester, M. ; Truong, T. ; van der Kolk, L. E. ; Weinberg, C. ; Wendt, C. ; Yang, X. R. ; Zheng, W. ; Ziogas, A. ; Dunning, A. M. ; Pharoah, P. ; Easton, D. F. ; Ben-Sachar, S. ; Elefant, N. ; Shamir, R. ; Elkon, R. ; Wang, Q. (Contributor) ; Bolla, M. K. (Contributor) ; Dennis, J. (Contributor) ; Michailidou, K. (Contributor) ; Lush, M. (Contributor) ; Ahearn, T. U. (Contributor) ; Andrulis, I. L. (Contributor) ; Anton-Culver, H. (Contributor) ; Antoniou, A. C. (Contributor) ; Arndt, V. (Contributor)DKFZ* ; Augustinsson, A. (Contributor) ; Auvinen, P. (Contributor) ; Laura, E. (Contributor) ; Freeman, B. (Contributor) ; Beckmann, M. W. (Contributor) ; Behrens, S. (Contributor)DKFZ* ; Bermisheva, M. (Contributor) ; Bodelon, C. (Contributor) ; Bogdanova, N. V. (Contributor) ; Bojesen, S. E. (Contributor) ; Brenner, H. (Contributor)DKFZ* ; Byers, H. (Contributor) ; Camp, N. J. (Contributor) ; Castelao, J. E. (Contributor) ; Chang-Claude, J. (Contributor)DKFZ* ; Chirlaque, M.-D. (Contributor) ; Chung, W. K. (Contributor) ; Clarke, C. L. (Contributor) ; Margriet Collee, J. (Contributor) ; Colonna, S. V. (Contributor) ; Couch, F. J. (Contributor) ; Cox, A. (Contributor) ; Cross, S. S. (Contributor) ; Czene, K. (Contributor) ; Daly, M. B. (Contributor) ; Devilee, P. (Contributor) ; Dork, T. (Contributor) ; Dossus, L. (Contributor) ; Eccles, D. M. (Contributor) ; Heather Eliassen, A. (Contributor) ; Eriksson, M. (Contributor) ; Gareth Evans, D. (Contributor) ; Fasching, P. A. (Contributor) ; Fletcher, O. (Contributor) ; Flyger, H. (Contributor) ; Fritschi, L. (Contributor) ; Gabrielson, M. (Contributor) ; Gago-Dominguez, M. (Contributor) ; Garcia-Closas, M. (Contributor) ; Garcia-Saenz, J. A. (Contributor) ; Genkinger, J. (Contributor) ; Giles, G. G. (Contributor) ; Goldberg, M. S. (Contributor) ; Guenel, P. (Contributor) ; Hall, P. (Contributor) ; Hamann, U. (Contributor)DKFZ* ; He, W. (Contributor) ; Hillemanns, P. (Contributor) ; Hollestelle, A. (Contributor) ; Hoppe, R. (Contributor) ; Hopper, J. L. (Contributor) ; Jakovchevska, S. (Contributor) ; Jakubowska, A. (Contributor) ; Jernstrom, H. (Contributor) ; John, E. M. (Contributor) ; Johnson, N. (Contributor) ; Jones, M. E. (Contributor) ; Joseph, V. (Contributor) ; Kaaks, R. (Contributor)DKFZ* ; Khusnutdinova, E. K. (Contributor) ; Kitahara, C. M. (Contributor) ; Koutros, S. (Contributor) ; Kristensen, V. N. (Contributor) ; Kurian, A. W. (Contributor) ; Lacey, J. V. (Contributor) ; Lambrechts, D. (Contributor) ; Marchand, L. L. (Contributor) ; Lejbkowicz, F. (Contributor) ; Lindblom, A. (Contributor) ; Loibl, S. (Contributor) ; Lori, A. (Contributor) ; Lubinski, J. (Contributor) ; Mannermaa, A. (Contributor) ; Manoochehri, M. (Contributor)DKFZ* ; Mavroudis, D. (Contributor) ; Menon, U. (Contributor) ; Mulligan, A. M. (Contributor) ; Murphy, R. A. (Contributor) ; Nevelsteen, I. (Contributor) ; Newman, W. G. (Contributor) ; Obi, N. (Contributor) ; O'Brien, K. M. (Contributor) ; Offit, K. (Contributor) ; Olshan, A. F. (Contributor) ; Olson, J. E. (Contributor) ; Panico, S. (Contributor) ; Alpa, V. (Contributor) ; Park-Simon, P. T. (Contributor) ; Peterlongo, P. (Contributor) ; Plaseska-Karanfilska, D. (Contributor) ; Rack, B. (Contributor) ; Radice, P. (Contributor) ; Rennert, G. (Contributor) ; Rhenius, V. (Contributor) ; Romero, A. (Contributor) ; Saloustros, E. (Contributor) ; Sandler, D. P. (Contributor) ; Schmidt, M. K. (Contributor) ; Schwentner, L. (Contributor) ; Shah, M. (Contributor) ; Sharma, P. (Contributor) ; Simard, J. (Contributor) ; Southey, M. C. (Contributor) ; Stone, J. (Contributor) ; Tapper, W. J. (Contributor) ; Taylor, J. A. (Contributor) ; Teras, L. R. (Contributor) ; Toland, A. E. (Contributor) ; Troester, M. A. (Contributor) ; Truong, T. (Contributor) ; van der Kolk, L. E. (Contributor) ; Weinberg, C. R. (Contributor) ; Wendt, C. (Contributor) ; Yang, X. R. (Contributor) ; Zheng, W. (Contributor) ; Ziogas, A. (Contributor) ; Dunning, A. M. (Contributor) ; Pharoah, P. D. P. (Contributor) ; Easton, D. F. (Contributor)

2023
BMJ Publishing Group London

This record in other databases:  

Please use a persistent id in citations: doi:10.1136/jmg-2023-109185

Abstract: 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.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.

Keyword(s): Genomics ; Polymorphism, Genetic

Note: 2023 Nov 27;60(12):1186-1197

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Contributing Institute(s):

1. C071 Cancer Survivorship (C071)
2. C070 Klinische Epidemiologie und Alternf. (C070)
3. Präventive Onkologie (C120)
4. DKTK HD zentral (HD01)
5. C020 Epidemiologie von Krebs (C020)
6. Molekulargenetik des Mammakarzinoms (B072)
7. B070 Funktionelle Genomanalyse (B070)

Research Program(s):

1. 313 - Krebsrisikofaktoren und Prävention (POF4-313) (POF4-313)

Appears in the scientific report 2023

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Database coverage:
; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Current Contents - Life Sciences ; Essential Science Indicators ; IF < 5 ; JCR ; National-Konsortium ; PubMed Central ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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