Table 2.
Distribution of rare variants and results of the association tests for the 7 genes showing association with BC (p ≤ 0.05)
| Any variant | LoF | Likely deleterious MV | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gene | Control carriers | Case carriers | OR1 (95%CI) | p‐Value | OR2 (95%CI) | p‐Value | Control carriers | Case carriers | OR1 (95%CI) | p‐Value | Control carriers | Case carriers | OR1 (95%CI) | p‐Value | P het 3 |
| ATM | 40 | 77 | 1.9 (1.3, 2.9) | 0.001 | 1.8 (1.2, 2.7) | 0.003 | 1 | 16 | 17.4 (2.3, 132) | 0.006 | 39 | 61 | 1.6 (1.0, 2.3) | 0.04 | 0.002 |
| CHEK2 | 22 | 62 | 3.0 (1.9, 5.0) | 0.00001 | 2.9 (1.7, 4.7) | 0.0004 | 4 | 21 | 5.8 (2.0, 16.9) | 0.001 | 18 | 41 | 2.4 (1.4, 4.3) | 0.002 | 0.14 |
| FANCI | 22 | 13 | 0.6 (0.3, 1.2) | 0.13 | 0.5 (0.3, 1.1) | 0.08 | 1 | 4 | 3.7 (0.4, 33.6) | 0.24 | 21 | 9 | 0.4 (0.2, 1.0) | 0.04 | 0.04 |
| MAST1 | 8 | 17 | 2.2 (0.9, 5.1) | 0.07 | 2.0 (0.9, 4.7) | 0.11 | 1 | 0 | ‐ | ‐ | 7 | 17 | 2.5 (1.0, 6.0) | 0.04 | ‐ |
| PALB2 | 9 | 30 | 3.5 (1.7, 7.5) | 0.001 | 3.2 (1.5, 6.9) | 0.002 | 3 | 10 | 3.6 (1.0, 13.3) | 0.05 | 6 | 20 | 3.5 (1.4, 8.7) | 0.008 | 0.95 |
| POLH | 13 | 5 | 0.4 (0.1, 1.1) | 0.07 | 0.3 (0.1, 1.0) | 0.04 | 0 | 1 | ‐ | ‐ | 13 | 4 | 0.3 (0.1, 1.0) | 0.04 | ‐ |
| RTEL1 | 20 | 8 | 0.4 (0.2, 0.9) | 0.03 | 0.4 (0.2, 0.8) | 0.02 | 0 | 0 | ‐ | ‐ | 20 | 8 | 0.4 (0.2, 0.9) | 0.03 | ‐ |
1
Reference group: noncarriers of a variant in the tested gene; adjusting for ethnicity and age at inclusion.
2
Reference group: noncarriers of a variant in the tested gene; adjusting for ethnicity, age at inclusion and number of altered genes (continuous).
3
p‐Value of the likelihood ratio test to test for heterogeneity between the effect of LoF and MV.