Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel

被引：1

作者：

Levi, Hagai ^{[1
,2
]}

Carmi, Shai ^{[3
]}

Rosset, Saharon ^{[4
]}

Yerushalmi, Rinat ^{[5
,6
]}

Zick, Aviad ^{[7
,8
]}

Yablonski-Peretz, Tamar ^{[7
,8
]}

Wang, Qin ^{[9
]}

Bolla, Manjeet K. ^{[9
]}

Dennis, Joe ^{[9
]}

Michailidou, Kyriaki ^{[9
,10
]}

Lush, Michael ^{[9
]}

Ahearn, Thomas ^{[11
]}

Andrulis, Irene L. ^{[12
,13
]}

Anton-Culver, Hoda ^{[14
]}

Antoniou, Antonis C. ^{[9
]}

Arndt, Volker ^{[15
]}

Augustinsson, Annelie ^{[16
]}

Auvinen, Paivi ^{[17
,18
,19
]}

Freeman, Laura Beane ^{[11
]}

Beckmann, Matthias ^{[20
]}

Behrens, Sabine ^{[21
]}

Bermisheva, Marina ^{[22
]}

Bodelon, Clara ^{[23
]}

Bogdanova, Natalia V. ^{[24
,25
,26
]}

Bojesen, Stig E. ^{[27
,28
,29
]}

Brenner, Hermann ^{[15
,30
,31
,32
]}

Byers, Helen ^{[33
]}

Camp, Nicola ^{[34
,35
]}

Castelao, Jose ^{[36
]}

Chang-Claude, Jenny ^{[21
,37
]}

Chirlaque, Maria-Dolores ^{[38
]}

Chung, Wendy ^{[39
,40
]}

Clarke, Christine ^{[41
]}

Collee, Margriet J. ^{[45
]}

Colonna, Sarah ^{[34
,35
]}

Couch, Fergus ^{[48
]}

Cox, Angela ^{[49
]}

Cross, Simon S. ^{[50
]}

Czene, Kamila ^{[51
]}

Daly, Mary ^{[52
]}

Devilee, Peter ^{[53
,54
]}

Dork, Thilo ^{[25
]}

Dossus, Laure ^{[55
]}

Eccles, Diana M. ^{[56
]}

Eliassen, A. Heather ^{[57
,58
,59
,60
]}

Eriksson, Mikael ^{[51
]}

Evans, Gareth ^{[33
,61
]}

Fasching, Peter ^{[20
]}

Fletcher, Olivia ^{[62
]}

Flyger, Henrik ^{[63
]}

机构：

[1] Tel Aviv Univ, Blavatnik Sch Comp Sci, Tel Aviv, Israel

[2] Tel Aviv Univ, Dept Human Mol Genet & Biochem, Tel Aviv, Israel

[3] Hebrew Univ Jerusalem, Braun Sch Publ Hlth & Community Med, Jerusalem, Israel

[4] Tel Aviv Univ, Dept Stat & Operat Res, Tel Aviv, Israel

[5] Beilinson Med Ctr, Inst Oncol, Davidoff Canc Ctr, Rabin Med Ctr, Petah Tiqwa, Israel

[6] Tel Aviv Univ, Sackler Sch Med, Tel Aviv, Israel

[7] Hadassah Med Ctr, Dept Oncol, Jerusalem, Israel

[8] Hebrew Univ Jerusalem, Jerusalem, Israel

[9] Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England

[10] Cyprus Inst Neurol & Genet, Biostat Unit, Nicosia, Cyprus

[11] Natl Canc Inst, Natl Inst Hlth, Div Canc Epidemiol & Genet, Bethesda, MD USA

[12] Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Fred A Litwin Ctr Canc Genet, Toronto, ON, Canada

[13] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada

[14] Univ Calif Irvine, Genet Epidemiol Res Inst, Dept Med, Irvine, CA USA

[15] German Canc Res Ctr, Div Clin Epidemiol & Aging Res, Heidelberg, Germany

[16] Lund Univ, Dept Clin Sci Lund, Oncol, Lund, Sweden

[17] Univ Eastern Finland, Translat Canc Res Area, Kuopio, Finland

[18] Univ Eastern Finland, Inst Clin Med, Oncol, Kuopio, Finland

[19] Kuopio Univ Hosp, Canc Ctr, Dept Oncol, Kuopio, Finland

[20] Friedrich Alexander Univ Erlangen Nuremberg, Comprehens Canc Ctr Erlangen EMN, Dept Gynecol & Obstet, Erlangen, Germany

[21] German Canc Res Ctr, Div Canc Epidemiol, Heidelberg, Germany

[22] Russian Acad Sci, Ufa Fed Res Ctr, Inst Biochem & Genet, Ufa, Russia

[23] Amer Canc Soc, Dept Populat Sci, Atlanta, GA USA

[24] Hannover Med Sch, Dept Radiat Oncol, Hannover, Germany

[25] Hannover Med Sch, Gynaecol Res Unit, Hamburg, Germany

[26] NN Alexandrov Res Inst Oncol & Med Radiol, Minsk, BELARUS

[27] Copenhagen Univ Hosp, Herlev & Gentofte Hosp, Copenhagen Gen Populat Study, Herlev, Denmark

[28] Copenhagen Univ Hosp, Herlev & Gentofte Hosp, Dept Clin Biochem, Herlev, Denmark

[29] Fac Hlth & Med Sci, Copenhagen, Denmark

[30] German Canc Res Ctr, German Canc Consortium DKTK, Heidelberg, Germany

[31] German Canc Res Ctr, Div Prevent Oncol, Heidelberg, Germany

[32] Natl Ctr Tumor Dis NCT, Heidelberg, Germany

[33] Manchester Acad Hlth Sci Ctr, Manchester Univ NHS Fdn Trust, St Marys Hosp, North West Genom Lab Hub,Manchester Ctr Genom Med, Manchester, Lancs, England

[34] Univ Utah, Dept Internal Med, Salt lake city, UT USA

[35] Univ Utah, Huntsman Canc Inst, Salt lake city, UT USA

[36] Xerencia Xestion Integrada Vigo SERGAS, Inst Invest Sanitaria Galicia IISGS, Oncol & Genet Unit, Vigo, Spain

[37] Univ Med Ctr Hamburg Eppendorf, Univ Canc Ctr Hamburg UCCH, Canc Epidemiol Grp, Hamburg, Germany

[38] CIBER Epidemiol & Publ Hlth CIBERESP, Madrid, Spain

[39] Columbia Univ, Dept Pediat, New York, NY USA

[40] Columbia Univ, Dept Med, New York, NY USA

[41] Univ Sydney, Westmead Inst Med Res, Sydney, NSW, Australia

[42] Univ Oslo, Inst Clin Med, Fac Med, Oslo, Norway

[43] Oslo Univ Hosp, Dept Med Genet, Oslo, Norway

[44] Univ Oslo, Oslo, Norway

[45] Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands

[46] City of Hope, Dept Comp & Quantitat Med, Duarte, CA USA

[47] City of Hope, City of Hope Comprehens Canc Ctr, Duarte, CA USA

[48] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA

[49] Univ Sheffield, Sheffield Inst Nucl Acids SInFoNiA, Dept Oncol & Metab, Sheffield, S Yorkshire, England

[50] Univ Sheffield, Dept Neurosci, Acad Unit Pathol, Sheffield, S Yorkshire, England

来源：

JOURNAL OF MEDICAL GENETICS | 2023年 / 60卷 / 12期

基金：

美国国家卫生研究院; 芬兰科学院; 澳大利亚国家健康与医学研究理事会; 新加坡国家研究基金会; 瑞典研究理事会;

关键词：

ASSOCIATION; PREDICTION; AMERICAN;

D O I：

10.1136/jmg-2023-109185

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 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.

引用

页码：1186 / 1197

页数：12

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