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Table 2 Predictive performance of the primary PRSs for overall and ER+/ER− breast cancer

From: Development and validation of polygenic risk scores for prediction of breast cancer and breast cancer subtypes in Chinese women

PRS

N (Controls/Cases)

Cases (Median, IQR)

Controls (Median, IQR)

Q4th vs Q1st OR (95% CI)

IQ-OR (95% CI)

O/E OR (95% CI)

AUC (95% CI)

Adjustmenta

Overall breast cancer

 PRSRLR

374/427

0.62 (0.23–1.05)

0.44 (0.05–0.84)

2.09 (1.40–3.11)

1.49 (1.23–1.81)

1.10 (0.71–1.48)

0.586 (0.547–0.625)

None

0.15 (−0.23–0.58)

−0.01 (− 0.40–0.36)

2.02 (1.36–2.99)

1.43 (1.19–1.72)

1.08 (0.51–1.64)

0.582 (0.543–0.621)

B

 PRSLRR

0.14 (−0.06–0.32)

0.02 (− 0.18–0.23)

2.59 (1.71–3.91)

1.58 (1.29–1.92)

1.08 (0.62–1.55)

0.598 (0.559–0.637)

None

0.11 (−0.09–0.28)

− 0.01 (− 0.22–0.21)

2.47 (1.63–3.73)

1.57 (1.28–1.93)

1.08 (0.81–1.35)

0.595 (0.556–0.634)

B

 PRSANN

0.01 (− 0.24–0.13)

−0.17 (− 0.33–0.09)

2.61 (1.72–3.95)

1.76 (1.39–2.24)

1.09 (0.77–1.41)

0.601 (0.562–0.640)

None

0.15 (−0.10–0.26)

−0.02 (− 0.19–0.22)

2.51 (1.67–3.79)

1.68 (1.34–2.12)

1.17 (0.62–1.72)

0.596 (0.557–0.635)

B

ERb breast cancer

 PRSRLR

374/290

0.65 (0.24–1.06)

0.44 (0.05–0.84)

2.24 (1.44–3.48)

1.56 (1.26–1.93)

1.09 (0.61–1.57)

0.597 (0.553–0.641)

None

0.20 (−0.22–0.60)

− 0.01 (− 0.40–0.36)

2.18 (1.41–3.37)

1.49 (1.22–1.83)

1.06 (0.53–1.59)

0.592 (0.548–0.636)

B

 PRSLRR

0.15 (− 0.05–0.33)

0.02 (− 0.18–0.23)

2.94 (1.85–4.69)

1.67 (1.34–2.08)

1.12 (0.74–1.51)

0.613 (0.570–0.656)

None

0.12 (− 0.07–0.30)

−0.01 (− 0.22–0.21)

2.72 (1.71–4.32)

1.67 (1.33–2.10)

1.10 (0.75–1.45)

0.608 (0.565–0.651)

B

 PRSANN

0.04 (−0.22–0.15)

− 0.17 (− 0.33–0.09)

3.00 (1.87–4.78)

1.96 (1.50–2.55)

1.09 (0.80–1.38)

0.620 (0.577–0.663)

None

0.17 (− 0.09–0.28)

−0.02 (− 0.19–0.22)

2.89 (1.82–4.58)

1.85 (1.43–2.39)

1.12 (0.65–1.59)

0.614 (0.571–0.657)

B

ER− breast cancer

 PRSRLR

374/124

0.57 (0.19–0.92)

0.44 (0.05–0.84)

1.63 (0.91–2.95)

1.27 (0.96–1.69)

1.08 (0.42–1.74)

0.554 (0.495–0.613)

None

0.10 (−0.27–0.49)

− 0.01 (− 0.40–0.36)

1.53 (0.86–2.73)

1.24 (0.94–1.62)

1.17 (0.35–1.99)

0.549 (0.490–0.608)

B

 PRSLRR

0.08 (− 0.11–0.28)

0.02 (− 0.18–0.23)

1.79 (0.98–3.28)

1.29 (0.97–1.72)

1.23 (0.18–2.28)

0.555 (0.496–0.614)

None

0.05 (− 0.12–0.25)

− 0.01 (− 0.22–0.21)

1.87 (1.00–3.50)

1.30 (0.96–1.75)

1.15 (0.41–1.89)

0.555 (0.496–0.614)

B

 PRSANN

−0.13 (− 0.25–0.11)

−0.17 (− 0.33–0.09)

1.78 (0.96–3.30)

1.32 (0.93–1.87)

1.37 (− 0.62–3.35)

0.550 (0.491–0.609)

None

−0.01 (− 0.11–0.24)

−0.02 (− 0.19–0.22)

1.70 (0.92–3.14)

1.30 (0.93–1.82)

1.21 (− 0.18–2.60)

0.548 (0.489–0.607)

B

  1. aAdjustment B: adjusted for classical breast cancer risk factors; Q4th vs Q1st OR: participants in the fourth quartile of the PRS vs those in the first quartile
  2. ERb estrogen receptor positive, ER estrogen receptor negative, OR odds ratio, Q4th fourth quartile, Q1st first quartile, IQR interquartile range, PRS polygenic risk score, RLR repeated logistic regression, LRR logistic ridge regression, ANN Artificial Neural Network, IQ-OR OR per IQR increase of the PRS in controls, O/E OR observed to expected OR, AUC area under the receiver operator characteristic curve