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. 2020 Jun 16;58(5):305–313. doi: 10.1136/jmedgenet-2019-106739

Table 1.

Frequency of mutations and estimated risk of EOC in candidate genes (p<0.05) from targeted sequencing and exome sequencing

Set* Histotype Gene Controls Cases Or (95% CI) P value
No. % No. %
TS Overall POLK 9 0.17 29 0.52 3.04 (1.43 to 6.43) 0.0037
PALB2 6 0.12 19 0.34 3.10 (1.23 to 7.78) 0.016
SLX4 4 0.08 13 0.23 3.08 (1.00 to 9.48) 0.0049
FBXO10 9 0.17 3 0.053 0.30 (0.08 to 1.11) 0.071
Non-carrier 5174 99.5 5492 98.8
HGSOC POLK 9 0.17 27 0.53 3.17 (1.48 to 6.79) 0.003
PALB2 6 0.12 18 0.35 3.30 (1.30 to 8.38) 0.012
SLX4 4 0.08 13 0.25 3.51 (1.13 to 10.9) 0.029
FBXO10 9 0.17 3 0.059 0.32 (0.09 to 1.18) 0.086
Non-carrier 5174 99.5 5062 98.8
ES Overall POLK 7 0.77 6 0.72 0.94 (0.32 to 2.82) 0.92
PALB2 2 0.22 3 0.36 1.65 (0.28 to 9.93) 0.58
SLX4 0 0 2 0.24 NA
FBXO10 1 0.11 0 0
Non-carrier 903 98.9 818 98.7
HGSOC POLK 7 0.77 6 0.72 0.94 (0.32 to 2.82) 0.92
PALB2 2 0.22 3 0.36 1.66 (0.28 to 9.94) 0.58
SLX4 0 0 2 0.24 NA
FBXO10 1 0.11 0 0 NA
Non-carrier 903 98.9 817 98.7

*TS: targeted sequencing; ES: exome sequencing.

EOC, epithelial ovarian cancer; HGSOC, high-grade serous ovarian cancer; OCAC, Ovarian Cancer Association Consortium.