Table 4 Impact of polygenic risk score (PRS) on the breast cancer risk conferred by the CHEK2 frameshift mutation.

From: The role of polygenic risk and susceptibility genes in breast cancer over the course of life

 

HR (95% CI)

p value

Lifetime risk, % (95% CI)

Cases

Controls

CHEK2 & PRS >90%

5.71 (4.33–7.52)

5.31 × 10−35

59.2 (52.1–66.3)

51

133

CHEK2

2.12 (1.81–2.48)

2.35 × 10−20

29.3 (26.8–31.8)

158

1163

PRS 10–90%

1.00 (reference)

–

15.3 (15.1–15.5)

6116

90,945

CHEK2 & PRS <10%

0.58 (0.24–1.41)

0.23

9.3 (4.5–14.1)

5

138

  1. Population level was defined as women with PRS between the 10th and 90th percentiles. The estimates were obtained from a Cox proportional hazards model in 122,978 women, without adjusting for multiple comparisons. All tests were two-tailed.
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