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@ARTICLE{Levi:277746,
author = {H. Levi and S. Carmi and S. Rosset and R. Yerushalmi and A.
Zick and T. Yablonski-Peretz and Q. Wang and M. K. Bolla and
J. Dennis and K. Michailidou and M. Lush and T. Ahearn and
I. L. Andrulis and H. Anton-Culver and A. C. Antoniou and V.
Arndt$^*$ and A. Augustinsson and P. Auvinen and L. Beane
Freeman and M. Beckmann and S. Behrens$^*$ and M. Bermisheva
and C. Bodelon and N. V. Bogdanova and S. E. Bojesen and H.
Brenner$^*$ and H. Byers and N. Camp and J. Castelao and J.
Chang-Claude$^*$ and M.-D. Chirlaque and W. Chung and C.
Clarke and M. J. Collee and S. Colonna and F. Couch and A.
Cox and S. S. Cross and K. Czene and M. Daly and P. Devilee
and T. Dork and L. Dossus and D. M. Eccles and A. H.
Eliassen and M. Eriksson and G. Evans and P. Fasching and O.
Fletcher and H. Flyger and L. Fritschi and M. Gabrielson and
M. Gago-Dominguez and M. García-Closas and J. A.
Garcia-Saenz and J. Genkinger and G. G. Giles and M.
Goldberg and P. Guénel and P. Hall and U. Hamann$^*$ and W.
He and P. Hillemanns and A. Hollestelle and R. Hoppe and J.
Hopper and S. Jakovchevska and A. Jakubowska and H.
Jernström and E. John and N. Johnson and M. Jones and J.
Vijai and R. Kaaks$^*$ and E. Khusnutdinova and C. Kitahara
and S. Koutros and V. Kristensen and A. W. Kurian and J.
Lacey and D. Lambrechts and L. Le Marchand and F. Lejbkowicz
and A. Lindblom and S. Loibl and A. Lori and J. Lubinski and
A. Mannermaa and M. Manoochehri$^*$ and D. Mavroudis and U.
Menon and A. Mulligan and R. Murphy and I. Nevelsteen and W.
G. Newman and N. Obi and K. O'Brien and K. Offit and A.
Olshan and D. Plaseska-Karanfilska and J. Olson and S.
Panico and T.-W. Park-Simon and A. Patel and P. Peterlongo
and B. Rack and P. Radice and G. Rennert and V. Rhenius and
A. Romero and E. Saloustros and D. Sandler and M. K. Schmidt
and L. Schwentner and M. Shah and P. Sharma and J. Simard
and M. Southey and J. Stone and W. J. Tapper and J. Taylor
and L. Teras and A. E. Toland and M. Troester and T. Truong
and L. E. van der Kolk and C. Weinberg and C. Wendt and X.
R. Yang and W. Zheng and A. Ziogas and A. M. Dunning and P.
Pharoah and D. F. Easton and S. Ben-Sachar and N. Elefant
and R. Shamir and R. Elkon},
collaboration = {B. Consortium and NBCS Collaborators and C. Consortium and
A. Investigators},
othercontributors = {Q. Wang and M. K. Bolla and J. Dennis and K. Michailidou
and M. Lush and T. U. Ahearn and I. L. Andrulis and H.
Anton-Culver and A. C. Antoniou and V. Arndt$^*$ and A.
Augustinsson and P. Auvinen and E. Laura and B. Freeman and
M. W. Beckmann and S. Behrens$^*$ and M. Bermisheva and C.
Bodelon and N. V. Bogdanova and S. E. Bojesen and H.
Brenner$^*$ and H. Byers and N. J. Camp and J. E. Castelao
and J. Chang-Claude$^*$ and M.-D. Chirlaque and W. K. Chung
and C. L. Clarke and J. Margriet Collee and S. V. Colonna
and F. J. Couch and A. Cox and S. S. Cross and K. Czene and
M. B. Daly and P. Devilee and T. Dork and L. Dossus and D.
M. Eccles and A. Heather Eliassen and M. Eriksson and D.
Gareth Evans and P. A. Fasching and O. Fletcher and H.
Flyger and L. Fritschi and M. Gabrielson and M.
Gago-Dominguez and M. Garcia-Closas and J. A. Garcia-Saenz
and J. Genkinger and G. G. Giles and M. S. Goldberg and P.
Guenel and P. Hall and U. Hamann$^*$ and W. He and P.
Hillemanns and A. Hollestelle and R. Hoppe and J. L. Hopper
and S. Jakovchevska and A. Jakubowska and H. Jernstrom and
E. M. John and N. Johnson and M. E. Jones and V. Joseph and
R. Kaaks$^*$ and E. K. Khusnutdinova and C. M. Kitahara and
S. Koutros and V. N. Kristensen and A. W. Kurian and J. V.
Lacey and D. Lambrechts and L. L. Marchand and F. Lejbkowicz
and A. Lindblom and S. Loibl and A. Lori and J. Lubinski and
A. Mannermaa and M. Manoochehri$^*$ and D. Mavroudis and U.
Menon and A. M. Mulligan and R. A. Murphy and I. Nevelsteen
and W. G. Newman and N. Obi and K. M. O'Brien and K. Offit
and A. F. Olshan and J. E. Olson and S. Panico and V. Alpa
and P. T. Park-Simon and P. Peterlongo and D.
Plaseska-Karanfilska and B. Rack and P. Radice and G.
Rennert and V. Rhenius and A. Romero and E. Saloustros and
D. P. Sandler and M. K. Schmidt and L. Schwentner and M.
Shah and P. Sharma and J. Simard and M. C. Southey and J.
Stone and W. J. Tapper and J. A. Taylor and L. R. Teras and
A. E. Toland and M. A. Troester and T. Truong and L. E. van
der Kolk and C. R. Weinberg and C. Wendt and X. R. Yang and
W. Zheng and A. Ziogas and A. M. Dunning and P. D. P.
Pharoah and D. F. Easton},
title = {{E}valuation of {E}uropean-based polygenic risk score for
breast cancer in {A}shkenazi {J}ewish women in {I}srael.},
journal = {Journal of medical genetics},
volume = {60},
number = {12},
issn = {0022-2593},
address = {London},
publisher = {BMJ Publishing Group},
reportid = {DKFZ-2023-01463},
pages = {1186-1197},
year = {2023},
note = {2023 Nov 27;60(12):1186-1197},
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.},
keywords = {Genomics (Other) / Polymorphism, Genetic (Other)},
cin = {C071 / C070 / C120 / HD01 / C020 / B072 / B070},
ddc = {610},
cid = {I:(DE-He78)C071-20160331 / I:(DE-He78)C070-20160331 /
I:(DE-He78)C120-20160331 / I:(DE-He78)HD01-20160331 /
I:(DE-He78)C020-20160331 / I:(DE-He78)B072-20160331 /
I:(DE-He78)B070-20160331},
pnm = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
pid = {G:(DE-HGF)POF4-313},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:37451831},
doi = {10.1136/jmg-2023-109185},
url = {https://inrepo02.dkfz.de/record/277746},
}
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