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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)

From: Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 years

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