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. Author manuscript; available in PMC: 2021 Oct 7.
Published in final edited form as: Genet Med. 2021 Jun 10;23(9):1726–1737. doi: 10.1038/s41436-021-01198-7

Table 2. Results of association analyses between the PRS313 and contralateral breast cancer risk.

BRCA1 heterozygotes [ER-negative PRS313] BRCA2 heterozygotes [ER-positive PRS313]
UBC cases, n CBC cases, n HRa 95% CI P UBC cases, n CBC cases, n HRa 95% CI P
PRS
continuous		 All CBC 5,189 1,402 1.12 1.06-1.18 5.98x10−5 3,561 647 1.15 1.07-1.25 1.94x10−4
Invasive CBC 5,324 1,267 1.13 1.07-1.20 3.15x10−5 3,663 545 1.15 1.06-1.25 6.02x10−4
Categorical
PRS
percentiles		 0-5 260 48 0.81 0.59-1.11 0.188 166 28 1.06 0.71-1.58 0.782
5-10 259 54 0.77 0.57-1.03 0.082 198 26 0.68 0.44-1.04 0.074
10-20 519 131 0.94 0.76-1.15 0.544 355 51 0.91 0.66-1.25 0.554
20-40 1,038 230 0.83 0.70-0.98 0.031 697 108 0.87 0.68-1.13 0.295
40-60 [reference] 1,037 282 1.00 695 123 1.00
60-80 1,038 313 1.04 0.88-1.22 0.664 734 128 0.96 0.75-1.23 0.748
80-90 519 170 1.11 0.92-1.34 0.255 358 90 1.35 1.03-1.77 0.030
90-95 259 82 1.18 0.92-1.51 0.185 178 46 1.35 0.96-1.90 0.082
95-100 260 92 1.24 0.98-1.56 0.074 180 47 1.31 0.94-1.82 0.116
PRS*age Main effect 5,189 1,402 1.48 1.15-1.89 2.03x10−3 3,561 647 1.53 1.11-2.12 0.010
BC1 continuous Interaction effect 0.99 0.99-1.00 0.025 0.99 0.99-1.00 0.089
PRS effect
per age
group		 <40 2,339 815 1.22 1.14-1.31 4.79x10−8 1,238 268 1.23 1.09-1.38 5.78x10−4
40-50 1,821 456 0.99 0.90-1.09 0.785 1,306 261 1.19 1.05-1.34 6.91x10−3
≥50 1,029 131 1.03 0.86-1.24 0.715 1,017 118 0.97 0.81-1.15 0.698
Variant
classb 		Class I 3,354 904 1.11 1.03-1.18 4.32x10−3 3,207 570 1.16 1.07-1.26 1.99x10−4
Class II 1,345 374 1.15 1.04-1.28 4.75x10−3 125 25 0.91 0.65-1.28 0.594
a

HRs for association with breast cancer and the continuous PRS313 are reported per standard deviation of the PRS in population-based controls.

b

Class I pathogenic variants result in an unstable or no protein. Class II pathogenic variants yield stable mutant proteins.

Abbreviations: BC1, First primary Breast Cancer; CBC, Contralateral Breast Cancer; CI, Confidence Interval; HR, Hazard Ratio; PRS, Polygenic Risk Score; UBC, Unilateral Breast Cancer.