Table 1.
Gene | 1320 OC Patients (a) N Mutations (%) |
2278 PMC N mutations (%) |
OR (95% CI); p (a) |
---|---|---|---|
Increased OC risk (b) | |||
BRCA1 (c) | 229 (17.35) | 5 (0.22) | 95.2 (40.1–295.2); 1.83 × 10−97 |
BRCA2 (c) | 94 (7.12) | 7 (0.31) | 24.9 (11.6–63.6); 1.16 × 10−33 |
RAD51D | 13 (0.98) | 2 (0.09) | 11.3 (2.6–103.4); 9.66 × 10−5 |
RAD51C | 13 (0.98) | 4 (0.18) | 5.7 (1.7–23.8); 0.001 |
BRIP1 (c) | 10 (0.76) | 5 (0.22) | 3.5 (1.1–13); 0.03 |
MLH1 (c) | 4 (0.3) | 1 (0.04) | 6.9 (0.7–340.4); 0.06 (d) |
MSH2 | 3 (0.23) | 0 | 0.049 (d) |
MSH6 | 3 (0.23) | 0 | 0.049 (d) |
STK11 | 2 (0.15) | 0 | 0.13 |
Potentially increase or insufficient evidence OC risk (b) | |||
NBN (c) | 14 (1.06) | 7 (0.31) | 3.5 (1.3–10.2); 0.006 |
PALB2 | 8 (0.61) | 9 (0.40) | 1.5 (0.5–4.5); 0.45 |
ATM (c) | 6 (0.45) | 8 (0.35) | 1.3 (0.4–4.3); 0.78 |
BARD1 (c) | 3 (0.23) | 0 | 0.049 |
No increased risk of OC (b) | |||
CHEK2 (c) | 11 (0.83) | 8 (0.35) | 2.4 (0.9–6.8); 0.06 |
TP53 (c) | 1 (0.08) | 2 (0.09) | 0.9 (0–16.6); 1 |
CDH1 (c) | 0 | 0 | - |
PTEN (c) | 0 | 0 | - |
NF1 | 0 | 0 | - |
(a) Prevalence of mutations in all 1333 patients (including 13 multiple mutation carriers) is provided in Table S2. (b) Gene classification according to the NCCN guidelines version 2020.1. (c) Excluding 13 multiple mutation carriers described in Figure 1 and Table S3. (d) When analyzed Lynch syndrome genes collectively: OR = 22.63 (95% CI 3.4–958.5); p = 1.95 × 10−05.