Table 2 Pathogenic and likely pathogenic variants in the Slovenian population in 17 gynecologic cancer genes.
From: Assessment of pathogenic variation in gynecologic cancer genes in a national cohort
Genes | Number of P/LP variants | Number of heterozygotes with P/LP variants | Frequency of heterozygotes with P/LP variants in Slovenian population (%) (N = 7091) | Frequency of heterozygotes with P/LP variants in controls (%) (N = 134.187) | Odds ratio (OR) (95% CI) | Chi-square statistic (two-tailed) | Chi-square p-value |
|---|---|---|---|---|---|---|---|
ATM | 18 | 36 | 0.51 | 0.29 | 1.73 CI 1.23–2.43 | 10.171 | 0.00143 |
BARD1 | 4 | 4 | 0.06 | 0.06 | 0.96 CI 0.35–2.62 | 0.007 | 0.934 |
BRCA1 | 10 | 28 | 0.40 | 0.22 | 1.81 CI 1.22–2.66 | 9.150 | 0.00249 |
BRCA2 | 6 | 18 | 0.25 | 0.30 | 0.84 CI 0.52–1.34 | 0.549 | 0.459 |
BRIP1 | 3 | 3 | 0.04 | 0.09 | 0.45 CI 0.14–1.40 | 2.007 | 0.157 |
CDH1 | 3 | 3 | 0.04 | 0.01 | 6.31 CI 1.71–23.31 | 10.050 | 0.00152 |
CHEK2 | 8 | 22 | 0.31 | 0.57 | 0.54 CI 0.36–0.83 | 8.136 | 0.00434 |
MLH1 | 3 | 3 | 0.04 | 0.03 | 1.67 CI 0.51–5.44 | 0.741 | 0.389 |
MSH2 | 2 | 2 | 0.03 | 0.01 | 2.37 CI 0.54–10.29 | 1.401 | 0.236 |
MSH6 | 5 | 5 | 0.07 | 0.09 | 0.80 CI 0.33–1.96 | 0.235 | 0.628 |
PALB2 | 5 | 9 | 0.13 | 0.15 | 0.87 CI 0.45–1.70 | 0.158 | 0.691 |
PMS2 | 4 | 10 | 0.14 | 0.12 | 1.18 CI 0.62–2.24 | 0.266 | 0.606 |
PTEN | NA | NA | NA | 0.01 | NA | NA | NA |
RAD51C | 3 | 9 | 0.13 | 0.09 | 1.47 CI 0.74–2.89 | 1.248 | 0.264 |
RAD51D | NA | NA | NA | 0.04 | NA | NA | NA |
STK11 | NA | NA | NA | NA | NA | NA | NA |
TP53 | NA | NA | NA | 0.02 | NA | NA | NA |
Sum | 74 | 152 | 2.14 | 2.10 | 1.02 CI 0.87–1.21 | 0.073 | 0.787 |
