首页|Polygenic risk scores for prediction of breast cancer risk in Asian populations

Polygenic risk scores for prediction of breast cancer risk in Asian populations

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  • NSTL
  • Elsevier
Purpose: Non-European populations are under-represented in genetics studies, hindering clinical implementation of breast cancer polygenic risk scores (PRSs). We aimed to develop PRSs using the largest available studies of Asian ancestry and to assess the transferability of PRS across ethnic subgroups. Methods: The development data set comprised 138,309 women from 17 case-control studies. PRSs were generated using a clumping and thresholding method, lasso penalized regression, an Empirical Bayes approach, a Bayesian polygenic prediction approach, or linear combinations of multiple PRSs. These PRSs were evaluated in 89,898 women from 3 prospective studies (1592 incident cases). Results: The best performing PRS (genome-wide set of single-nucleotide variations [formerly single-nucleotide polymorphism]) had a hazard ratio per unit SD of 1.62 (95% CI = 1.46-1.80) and an area under the receiver operating curve of 0.635 (95% CI = 0.622-0.649). Combined Asian and European PRSs (333 single-nucleotide variations) had a hazard ratio per SD of 1.53 (95% CI = 1.37-1.71) and an area under the receiver operating curve of 0.621 (95% CI = 0.608-0.635). The distribution of the latter PRS was different across ethnic subgroups, confirming the importance of population-specific calibration for valid estimation of breast cancer risk. Conclusion: PRSs developed in this study, from association data from multiple ancestries, can enhance risk stratification for women of Asian ancestry. (C) 2021 by American College of Medical Genetics and Genomics. Published by Elsevier Inc.

Breast cancerGeneticPolygenic risk scoreRisk predictionVARIANTSHEALTH

Zheng, Wei、Hartman, Mikael、Easton, Douglas F.、Teo, Soo-Hwang、BioBank Japan Project、Koh, Woon-Puay、Khor, Chiea-Chuen、Yuan, Jian-Min、Dorajoo, Rajkumar、Walters, Robin G.、Chen, Zhengming、Li, Liming、Lv, Jun、Jung, Keum-Ji、Kraft, Peter、Pharoah, Paul D. B.、Dunning, Alison M.、Simard, Jacques、Shu, Xiao-Ou、Yip, Cheng-Har、Taib, Nur Aishah Mohd、Antoniou, Antonis C.、Ho, Weang-Kee、Tai, Mei-Chee、Dennis, Joe、Shu, Xiang、Li, Jingmei、Ho, Peh Joo、Millwood, Iona Y.、Lin, Kuang、Jee, Yon-Ho、Lee, Su-Hyun、Mavaddat, Nasim、Bolla, Manjeet K.、Wang, Qin、Michailidou, Kyriaki、Long, Jirong、Wijaya, Eldarina Azfar、Hassan, Tiara、Rahmat, Kartini、Tan, Veronique Kiak Mien、Tan, Benita Kiat Tee、Tan, Su Ming、Tan, Ern Yu、Lim, Swee Ho、Gao, Yu-Tang、Zheng, Ying、Kang, Daehee、Choi, Ji-Yeob、Han, Wonshik、Lee, Han-Byoel、Kubo, Michiki、Okada, Yukinori、Namba, Shinichi、Park, Sue K.、Kim, Sung-Won、Shen, Chen-Yang、Wu, Pei-Ei、Park, Boyoung、Muir, Kenneth R.、Lophatananon, Artitaya、Wu, Anna H.、Tseng, Chiu-Chen、Matsuo, Keitaro、Ito, Hidemi、Kwong, Ava、Chan, Tsun L.、John, Esther M.、Kurian, Allison W.、Iwasaki, Motoki、Yamaji, Taiki、Kweon, Sun-Seog、Aronson, Kristan J.、Murphy, Rachel A.

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Div Epidemiol,Vanderbilt Univ

Univ Surg Cluster,Natl Univ Singapore Hosp

Ctr Canc Genet Epidemiol,Univ Cambridge

Canc Res Malaysia

Inst Med Sci,Univ Tokyo

Yong Loo Lin Sch Med,Natl Univ Singapore

Genome Inst Singapore,ASTAR

UPMC Hillman Canc Ctr,Univ Pittsburgh

Nuffield Dept Populat Hlth,Univ Oxford

Sch Publ Hlth,Peking Univ

Grad Sch Publ Hlth,Yonsei Univ

Dept Epidemiol,Harvard TH Chan Sch Publ Hlth

Genom Ctr,CHU Quebec Univ Laval Res Ctr

Subang Jaya Med Ctr

Fac Med,Univ Malaya Ctr

Fac Sci & Engn,Univ Nottingham Malaysia

Lab Womens Hlth & Genet,Genome Inst Singapore

Fac Med,Univ Malaya

Dept Breast Surg,Singapore Gen Hosp

Div Breast Surg,Changi Gen Hosp

Dept Gen Surg,Tan Tock Seng Hosp

KK Breast Dept,KK Womens & Childrens Hosp

Renji Hosp,Shanghai Jiao Tong Univ

Shanghai Municipal Ctr Dis Control & Prevent

Dept Prevent Med,Seoul Natl Univ

Canc Res Inst,Seoul Natl Univ

RIKEN Ctr Integrat Med Sci IMS

Fac Med,Osaka Univ

Dept Surg,Daerim St Marys Hosp

Inst Biomed Sci,Acad Sinica

Dept Med,Hanyang Univ

Sch Hlth Sci,Univ Manchester

Keck Sch Med,Univ Southern Calif

Div Canc Epidemiol & Prevent,Aichi Canc Ctr Res Inst

Div Canc Informat & Control,Aichi Canc Ctr Res Inst

Hong Kong Hereditary Breast Canc Family Registry,Canc Genet Ctr

Stanford Canc Inst,Stanford Univ

Ctr Publ Hlth Sci,Natl Canc Ctr

Dept Prevent Med,Chonnam Natl Univ Med Sch

Sch Med,Queens Univ

Canc Control Res,BC Canc

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2022

10.1016/j.gim.2021.11.008

Genetics in medicine

Genetics in medicine

ISTP
ISSN：1098-3600
年,卷(期)：2022.24(3)
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