Table 2 Association of known pathogenic variants and DCIS in women < 50 years of age by gene. For the GnomAD comparison, Non-Finnish European controls were used (v2.1)
Gene | Pathogenic variants in cases (N = 655) | Pathogenic variants in controls (N = 1611) | OR (95% CI) | P value | Pathogenic variants in gnomAD controls (N = 21,384) | OR (95% CI) (vs gnomAD controls) | P value (vs gnomAD controls) |
|---|---|---|---|---|---|---|---|
BRCA2 | 22 (3.4%) | 2 (0.1%) | 27.96 (6.56–119.26) | 2 × 10−10 | 76 (0.35%) | 9.74 (6.02–15.76) | 1 × 10−13 |
CHEK2 | 16 (2.4%) | 5 (0.3%) | 8.04 (2.93–22.05) | 9 × 10−6 | 144 (0.67%) | 3.69 (2.19–6.23) | 2 × 10−5 |
PALB2 | 6 (0.9%) | 1 (0.06%) | 14.88 (1.79–123.88) | 0.003 | 22 (0.1%) | 8.98 (3.63–22.21) | 1 × 10−4 |
BRCA1 | 4 (0.6%) | 0 (0%) | inf | 0.007 | 81 (0.38%) | 1.62 (0.59–4.42) | 0.32 |
TP53 | 3 (0.5%) | 0 (0%) | inf | 0.02 | 16 (0.07%) | 6.14 (1.79–21.14) | 0.018 |