Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel.
Genomics
Polymorphism, Genetic
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
27 Nov 2023
27 Nov 2023
Historique:
received:
26
01
2023
accepted:
28
05
2023
medline:
29
11
2023
pubmed:
15
7
2023
entrez:
14
7
2023
Statut:
epublish
Résumé
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.
Sections du résumé
BACKGROUND
BACKGROUND
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.
METHODS
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
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
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.
Identifiants
pubmed: 37451831
pii: jmg-2023-109185
doi: 10.1136/jmg-2023-109185
pmc: PMC10715538
doi:
Substances chimiques
Transcription Factors
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1186-1197Subventions
Organisme : NCI NIH HHS
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Investigateurs
Qin Wang
(Q)
Manjeet K Bolla
(MK)
Joe Dennis
(J)
Kyriaki Michailidou
(K)
Michael Lush
(M)
Thomas U Ahearn
(TU)
Irene L Andrulis
(IL)
Hoda Anton-Culver
(H)
Antonis C Antoniou
(AC)
Volker Arndt
(V)
Annelie Augustinsson
(A)
Paivi Auvinen
(P)
E Laura
(E)
Beane Freeman
(B)
Matthias W Beckmann
(MW)
Sabine Behrens
(S)
Marina Bermisheva
(M)
Clara Bodelon
(C)
Natalia V Bogdanova
(NV)
Stig E Bojesen
(SE)
Hermann Brenner
(H)
Helen Byers
(H)
Nicola J Camp
(NJ)
Jose E Castelao
(JE)
Jenny Chang-Claude
(J)
Maria-Dolores Chirlaque
(MD)
Wendy K Chung
(WK)
Christine L Clarke
(CL)
J Margriet Collee
(J)
Sarah V Colonna
(SV)
Fergus J Couch
(FJ)
Angela Cox
(A)
Simon S Cross
(SS)
Kamila Czene
(K)
Mary B Daly
(MB)
Peter Devilee
(P)
Thilo Dork
(T)
Laure Dossus
(L)
Diana M Eccles
(DM)
A Heather Eliassen
(A)
Mikael Eriksson
(M)
D Gareth Evans
(D)
Peter A Fasching
(PA)
Olivia Fletcher
(O)
Henrik Flyger
(H)
Lin Fritschi
(L)
Marike Gabrielson
(M)
Manuela Gago-Dominguez
(M)
Montserrat Garcia-Closas
(M)
Jose A Garcia-Saenz
(JA)
Jeanine Genkinger
(J)
Graham G Giles
(GG)
Mark S Goldberg
(MS)
Pascal Guenel
(P)
Per Hall
(P)
Ute Hamann
(U)
Wei He
(W)
Peter Hillemanns
(P)
Antoinette Hollestelle
(A)
Reiner Hoppe
(R)
John L Hopper
(JL)
Simona Jakovchevska
(S)
Anna Jakubowska
(A)
Helena Jernstrom
(H)
Esther M John
(EM)
Nichola Johnson
(N)
Michael E Jones
(ME)
Vijai Joseph
(V)
Rudolf Kaaks
(R)
Elza K Khusnutdinova
(EK)
Cari M Kitahara
(CM)
Stella Koutros
(S)
Vessela N Kristensen
(VN)
Allison W Kurian
(AW)
James V Lacey
(JV)
Diether Lambrechts
(D)
Loic Le Marchand
(LL)
Flavio Lejbkowicz
(F)
Annika Lindblom
(A)
Sibylle Loibl
(S)
Adriana Lori
(A)
Jan Lubinski
(J)
Arto Mannermaa
(A)
Mehdi Manoochehri
(M)
Dimitrios Mavroudis
(D)
Usha Menon
(U)
Anna Marie Mulligan
(AM)
Rachel A Murphy
(RA)
Ines Nevelsteen
(I)
William G Newman
(WG)
Nadia Obi
(N)
Katie M O'Brien
(KM)
Kenneth Offit
(K)
Andrew F Olshan
(AF)
Janet E Olson
(JE)
Salvatore Panico
(S)
V Alpa
(V)
Patel Tjoung-Won Park-Simon
(PT)
Paolo Peterlongo
(P)
Dijana Plaseska-Karanfilska
(D)
Brigitte Rack
(B)
Paolo Radice
(P)
Gad Rennert
(G)
Valerie Rhenius
(V)
Atocha Romero
(A)
Emmanouil Saloustros
(E)
Dale P Sandler
(DP)
Marjanka K Schmidt
(MK)
Lukas Schwentner
(L)
Mitul Shah
(M)
Priyanka Sharma
(P)
Jacques Simard
(J)
Melissa C Southey
(MC)
Jennifer Stone
(J)
William J Tapper
(WJ)
Jack A Taylor
(JA)
Lauren R Teras
(LR)
Amanda E Toland
(AE)
Melissa A Troester
(MA)
Therese Truong
(T)
Lizet E van der Kolk
(LE)
Clarice R Weinberg
(CR)
Camilla Wendt
(C)
Xiaohong R Yang
(XR)
Wei Zheng
(W)
Argyrios Ziogas
(A)
Alison M Dunning
(AM)
Paul D P Pharoah
(PDP)
Douglas F Easton
(DF)
Informations de copyright
© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: BCAC conflict of interest: MWB conducts research funded by Amgen, Novartis and Pfizer. PAF conducts research funded by Amgen, Novartis and Pfizer. He received Honoraria from Roche, Novartis and Pfizer. JV is one ofthe inventors of diagnosis and treatment of ERCC3-mutant cancer. AWK has a research funding for his institution from Myriad Genetics for an unrelated project (funding dates 2017–2019). UM has research collaborations with Mercy BioAnalytics, RNA Guardian, Dana Farber and iLOF (Intelligent Lab on Fiber). RAM is a consultant for Pharmavite.
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