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

Table 2.

Frequency of mutations and estimated risk of EOC in candidate genes for validation chip genotyping data

Set* Histotype Gene Controls Cases OR (95% CI) P value
No. % No. %
OCAC Overall PALB2 6 0.03 11 0.08 2.10 (0.74 to 5.94) 0.16
Non-carrier 18 930 99.97 13 277 99.9
HGSOC PALB2 6 0.03 6 0.097 3.48 (1.10 to 11.1) 0.035
Non-carrier 18 930 99.97 6168 99.9
Biobank Overall PALB2 11 0.11 3 0.35 3.12 (0.87 to 11.2) 0.081
POLK 29 0.30 2 0.23 0.78 (0.19 to 3.29) 0.74
Non-carrier 9685 99.6 853 99.4
HGSOC† PALB2 11 0.11 1 0.28 2.49 (0.32 to 19.4) 0.38
POLK 29 0.30 1 0.28 0.92 (0.12 to 6.74) 0.93
Non-carrier 9685 99.6 361 99.4

*OCAC: OCAC sample genotype on the OncoArray; Biobank: genotype from UK Biobank Axiom Array.

†Information on tumour grade was not available for UK Biobank cases, all the serous cases in UK Biobank were assumed to be HGSOC.

EOC, epithelial ovarian cancer.