Breast cancer-predisposition gene | ER-positive breast cancer (n = 18,428) | ER-negative breast cancer (n = 3805) | Triple-negative breast cancer (n = 1463) | |||
Participants with pathogenic variant (Number [%]) | Odds ratio (95% CI)¶ | Participants with pathogenic variant (Number [%]) | Odds ratio (95% CI)¶ | Participants with pathogenic variant (Number [%]) | Odds ratio (95% CI)¶ | |
ATM | 151 (0.82) | 1.96 (1.52-2.53) | 19 (0.50) | 1.04 (0.59-1.72) | 5 (0.34) | 0.50 (0.12-1.36) |
BARD1 | 20 (0.11) | 0.91 (0.49-1.64) | 11 (0.29) | 2.52 (1.18-5.00) | 6 (0.41) | 3.18 (1.16-7.42) |
BRCA1 | 73 (0.40) | 3.39 (2.17-5.45) | 114 (3.00) | 26.33 (17.28-41.52) | 65 (4.44) | 42.88 (26.56-71.25) |
BRCA2 | 201 (1.09) | 4.66 (3.52-6.23) | 82 (2.16) | 8.89 (6.36-12.47) | 30 (2.05) | 9.70 (5.97-15.47) |
CDH1 | 13 (0.07) | 3.37 (1.24-10.72) | 3 (0.08) | N/A | 1 (0.07) | N/A |
CHEK2 | 205 (1.11) | 2.60 (2.05-3.31) | 20 (0.53) | 1.40 (0.83-2.25) | 8 (0.55) | 1.63 (0.72-3.20) |
NF1Δ | 10 (0.05) | 1.63 (0.65-4.03) | 2 (0.05) | N/A | 1 (0.07) | N/A |
PALB2 | 64 (0.35) | 3.13 (2.02-4.96) | 42 (1.10) | 9.22 (5.63-15.25) | 24 (1.64) | 13.03 (7.08-23.75) |
PTEN | 3 (0.02) | N/A | 0 | N/A | 0 | N/A |
RAD51C | 16 (0.09) | 0.83 (0.44-1.54) | 9 (0.24) | 2.19 (0.97-4.49) | 4 (0.27) | N/A |
RAD51D | 13 (0.07) | 1.61 (0.71-3.70) | 7 (0.18) | 3.93 (1.40-10.29) | 1 (0.07) | N/A |
TP53Δ | 9 (0.05) | N/A | 2 (0.05) | N/A | 2 (0.14) | N/A |
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