European polygenic risk score for prediction of breast cancer shows similar performance in Asian women

被引：78

作者：

Ho, Weang-Kee ^{[1
,2
]}

Tan, Min-Min ^{[1
,2
]}

Mavaddat, Nasim ^{[3
]}

Tai, Mei-Chee ^{[2
]}

Mariapun, Shivaani ^{[1
,2
]}

Li, Jingmei ^{[4
,5
,6
]}

Ho, Peh-Joo ^{[4
]}

Dennis, Joe ^{[3
]}

Tyrer, Jonathan P. ^{[7
]}

Bolla, Manjeet K. ^{[3
]}

Michailidou, Kyriaki ^{[3
,8
,9
]}

Wang, Qin ^{[3
]}

Kang, Daehee ^{[10
,11
,12
]}

Choi, Ji-Yeob ^{[11
,12
]}

Jamaris, Suniza ^{[13
]}

Shu, Xiao-Ou ^{[14
]}

Yoon, Sook-Yee ^{[2
]}

Park, Sue K. ^{[10
,11
,12
]}

Kim, Sung-Won ^{[15
]}

Shen, Chen-Yang ^{[16
,17
]}

Yu, Jyh-Cherng ^{[18
]}

Tan, Ern Yu ^{[19
]}

Chan, Patrick Mun Yew ^{[19
]}

Muir, Kenneth ^{[20
]}

Lophatananon, Artitaya ^{[20
]}

Wu, Anna H. ^{[21
]}

Stram, Daniel O. ^{[21
]}

Matsuo, Keitaro ^{[22
,23
]}

Ito, Hidemi ^{[22
,23
]}

Chan, Ching Wan ^{[24
,25
]}

Ngeow, Joanne ^{[26
,27
]}

Yong, Wei Sean ^{[28
]}

Lim, Swee Ho ^{[29
]}

Lim, Geok Hoon ^{[29
]}

Kwong, Ava ^{[30
,31
,32
]}

Chan, Tsun L. ^{[30
,33
]}

Tan, Su Ming ^{[34
]}

Seah, Jaime ^{[34
]}

John, Esther M. ^{[35
]}

Kurian, Allison W. ^{[35
,36
]}

Koh, Woon-Puay ^{[37
,38
,39
]}

Khor, Chiea Chuen ^{[4
]}

Iwasaki, Motoki ^{[40
]}

Yamaji, Taiki ^{[40
]}

Tan, Kiak Mien Veronique ^{[28
,41
]}

Tan, Kiat Tee Benita ^{[28
,41
]}

Spinelli, John J. ^{[42
,43
]}

Aronson, Kristan J. ^{[44
,45
]}

Hasan, Siti Norhidayu ^{[2
]}

Rahmat, Kartini ^{[46
]}

机构：

[1] Univ Nottingham Malaysia, Fac Sci & Engn, Sch Math Sci, Jalan Broga, Semenyih 43500, Selangor, Malaysia

[2] Canc Res Malaysia, 1 Jalan SS12-1A, Subang Jaya 47500, Selangor, Malaysia

[3] Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Publ Hlth & Primary Care, Cambridge CB1 8RN, England

[4] Genome Inst Singapore, Human Genet, 60 Biopolis St, Singapore 138672, Singapore

[5] Natl Univ Singapore Hosp, Dept Surg, 1E Kent Ridge Rd, Singapore 119228, Singapore

[6] NUHS, 1E Kent Ridge Rd, Singapore 119228, Singapore

[7] Univ Cambridge, Strangeways Res Lab, 2 Worts Causeway, Cambridge, England

[8] Cyprus Inst Neurol & Genet, Biostat Unit, 6 Iroon Ave, CY-2371 Ayios, Dometios, Cyprus

[9] Cyprus Inst Neurol & Genet, Cyprus Sch Mol Med, 6 Iroon Ave, CY-2371 Ayios, Dometios, Cyprus

[10] Seoul Natl Univ, Dept Prevent Med, Coll Med, 103 Daehak Ro, Seoul 03080, South Korea

[11] Seoul Natl Univ, Dept Biomed Sci, Grad Sch, 103 Daehak Ro, Seoul 03080, South Korea

[12] Seoul Natl Univ, Canc Res Inst, 103 Daehak Ro, Seoul 03080, South Korea

[13] Univ Malaya, Fac Med, Dept Surg, Jalan Univ, Kuala Lumpur 50630, Malaysia

[14] Vanderbilt Univ, Vanderbilt Epidemiol Ctr, Vanderbilt Ingram Canc Ctr, Dept Med,Sch Med,Div Epidemiol, 1161 21st Ave S D3300, Nashville, TN 37232 USA

[15] Daerim St Marys Hosp, Dept Surg, 657 Siheung Daero, Seoul 07442, South Korea

[16] Acad Sinica, Inst Biomed Sci, Sect 2,Acad Rd, Taipei 115128, Taiwan

[17] China Med Univ, Sch Publ Hlth, Taichung, Taiwan

[18] Triserv Gen Hosp, Dept Surg, Taipei 114, Taiwan

[19] Tan Tock Seng Hosp, Dept Gen Surg, Singapore 308433, Singapore

[20] Univ Manchester, Sch Hlth Sci, Div Populat Hlth Hlth Serv Res & Primary Care, Oxford Rd, Manchester M13 9PL, Lancs, England

[21] Univ Southern Calif, Keck Sch Med, Dept Prevent Med, 1975 Zonal Ave, Los Angeles, CA 90033 USA

[22] Aichi Canc Ctr, Div Canc Epidemiol & Prevent, Res Inst, Chikusa Ku, 1-1 Kanokoden, Nagoya, Aichi 4648681, Japan

[23] Nagoya Univ, Div Canc Epidemiol, Grad Sch Med, Showa Ku, 65 Tsurumai Cho, Nagoya, Aichi 4668550, Japan

[24] Natl Univ Singapore, Yong Loo Lin Sch Med, Dept Surg, Singapore 117597, Singapore

[25] Natl Univ Hlth Syst, Natl Univ Hosp, Singapore, Singapore

[26] Natl Canc Ctr Singapore, Div Med Oncol, 11 Hosp Dr, Singapore 169610, Singapore

[27] Duke NUS Grad Med Sch, Oncol Acad Clin Program, 8 Coll Rd, Singapore 169857, Singapore

[28] Natl Canc Ctr, Div Surg Oncol, Singapore, Singapore

[29] KK Womens & Childrens Hosp, Breast Dept, Singapore100 Bukit Timah Rd, Singapore 229899, Singapore

[30] Canc Genet Ctr, Hong Kong Hereditary Breast Canc Family Registry, Happy Valley, 18A Kung Ngam Village Rd, Hong Kong, Peoples R China

[31] Univ Hong Kong, Dept Surg, Pok Fu Lam, 102 Pokfulam Rd, Hong Kong, Peoples R China

[32] Hong Kong Sanat & Hosp, Dept Surg, Happy Valley, 2 Village Rd, Hong Kong, Peoples R China

[33] Hong Kong Sanat & Hosp, Dept Pathol, Happy Valley, 2 Village Rd, Hong Kong, Peoples R China

[34] Changi Gen Hosp, Gen Surg, Singapore, Singapore

[35] Stanford Univ, Stanford Canc Inst, Dept Med, Div Oncol,Sch Med, 780 Welch Rd,Suite CJ250C, Stanford, CA 94304 USA

[36] Stanford Univ, Dept Hlth Res & Policy Epidemiol, Sch Med, 259 Campus Dr, Stanford, CA 94305 USA

[37] Stanford Univ, Duke NUS Med Sch, Hlth Serv & Syst Res, Sch Med, 8 Coll Rd, Singapore 169857, Singapore

[38] Natl Univ Singapore, Saw Swee Hock Sch Publ Hlth, 12 Sci Dr 2,10-01, Singapore 117549, Singapore

[39] Natl Univ Hlth Syst, 12 Sci Dr 2,10-01, Singapore 117549, Singapore

[40] Natl Canc Ctr, Ctr Publ Hlth Sci, Div Epidemiol, Chuo Ku, 5-1-1 Tsukiji, Tokyo 1040045, Japan

[41] Singapore Gen Hosp, Dept Gen Surg, Singapore, Singapore

[42] BC Canc, Populat Oncol, 675 West 10th Ave, Vancouver, BC V5Z 1G1, Canada

[43] Univ British Columbia, Sch Populat & Publ Hlth, 2329 West Mall, Vancouver, BC V6T 1Z4, Canada

[44] Queens Univ, Dept Publ Hlth Sci, 10 Stuart St, Kingston, ON K7L 3N6, Canada

[45] Queens Univ, Canc Res Inst, 10 Stuart St, Kingston, ON K7L 3N6, Canada

[46] Univ Malaya, Fac Med, Biomed Imaging Dept, Kuala Lumpur, Malaysia

[47] Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Oncol, 2 Worts Causeway, Cambridge CB1 8RN, England

[48] Univ Laval Res, CHU Quebec, Genom Ctr, 2705 Blvd Laurier Quebec, Quebec City, PQ G1V 4G2, Canada

[49] Natl Univ Singapore, Yong Loo Lin Sch Med, Dept Med, Singapore, Singapore

[50] Sime Darby Med Ctr, 1 Jalan SS12-1A, Subang Jaya 47500, Selangor, Malaysia

来源：

NATURE COMMUNICATIONS | 2020年 / 11卷 / 01期

基金：

英国惠康基金; 欧盟地平线“2020”; 加拿大健康研究院; 新加坡国家研究基金会;

关键词：

D O I：

10.1038/s41467-020-17680-w

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Polygenic risk scores (PRS) have been shown to predict breast cancer risk in European women, but their utility in Asian women is unclear. Here we evaluate the best performing PRSs for European-ancestry women using data from 17,262 breast cancer cases and 17,695 controls of Asian ancestry from 13 case-control studies, and 10,255 Chinese women from a prospective cohort (413 incident breast cancers). Compared to women in the middle quintile of the risk distribution, women in the highest 1% of PRS distribution have a similar to 2.7-fold risk and women in the lowest 1% of PRS distribution has similar to 0.4-fold risk of developing breast cancer. There is no evidence of heterogeneity in PRS performance in Chinese, Malay and Indian women. A PRS developed for European-ancestry women is also predictive of breast cancer risk in Asian women and can help in developing risk-stratified screening programmes in Asia.

引用

页数：11

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