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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