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. 2020 Apr 13;12(4):956. doi: 10.3390/cancers12040956

Table 1.

Mutation frequencies in 1320 ovarian cancer cases and in 2278 population-matched controls (PMC).

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.