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Table 1 Summary of PRS and breast cancer risk studies

From: Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field

Reference Year Study design Cohort Cohort location Sample size No. of SNPs AUC (95% CI) Risk prediction
Hüsing et al. [28] 2012 Retrospective Non-familial USA, Europe 6009 cases
7827 controls
32 0.58 (0.57–0 .60)
Sawyer et al. [7] 2012 Retrospective High-risk families Australia 1143 cases
892 controls
22 0.65 (0.63–0.68) 4.5-fold increased risk between lowest to highest quartile
Lifetime risk: 6 to 27% for lowest and top quartile
Mavaddat et al. [29] 2015 Retrospective Non-familial USA, Canada, Australia, Europe 33,673 cases
33,381 controls
77 0.62 (0.62–0.63) Threefold increased risk between fist centile and middle quintile
Lifetime risk: 3.5 to 29% for lowest centile to highest centile
Shieh et al. [30] 2016 Retrospective Non-familial USA Caucasian 387 cases
387 controls
83 0.59 (0.56–0.53) Twofold increased risk between lowest and higher quartile
Asian American 51 cases
51 controls
76 0.64 (0.53–0.74)
Evans et al. [31] 2016 Retrospective High-risk families England 364 cases
1605 controls
18 0.59 (0.55–0.63) Twofold increased risk between lowest to highest quintile
Muranen et al. [32] 2016 Retrospective High-risk families Finland 427 cases
1272 controls
75 Not reported 1.55 odds ratio per unit increase in the PRS within the family dataset
Wen et al. [33] 2016 Retrospective Non-familial East Asia 11,760 cases
11,612 controls
88 0.60 (not reported) 2.26-fold increased risk between lowest and top quartile
Li et al. [34] 2017 Prospective High-risk families USA, Australia, Canada 2869 unaffected
1496 affected
24 0.59 (0.55–0.63) Threefold increased risk lowest and highest quintile
Lifetime risk: 21 to 51% for lowest and highest quintile
Hsieh et al. [35] 2017 Retrospective Non-familial Taiwan 446 cases
514 controls
6 0.60 (not reported) 2.26-fold increased risk between lowest and highest quartile
Khera et al. [9] 2019 Retrospective Non-familial UK Biobank 6586 cases
157,895 controls
5218 (LDpred) 0.69 (0.68–0.69)
Chan et al. [36] 2018 Retrospective Non-familial Singapore-Chinese 301 cases
243 controls
51 0.57 (0.51–0.61) 1.88-fold increased risk between the lowest and higher quartile
Wang et al. [37] 2018 Retrospective Non-familial African 1657 cases
2029 controls
34 0.53 (0.51–0.55) 4.74-fold increased risk between lowest percentile and top percentile
Mavaddat et al. [38] 2019 Prospective Non-familial USA Caucasian 11,428 cases
18,323 controls
305 0.63 (0.63-0.65) 4.37-fold increased risk between middle quintile and highest 1%
Lifetime risk of ER-positive disease: 2 to 31% for lowest centile to highest centile
Lifetime risk of ER-negative disease: 0.55 to 4% for lowest centile to highest centile
  1. CI confidence interval