FIG A1.

OPTEC PMS2 and BRCA1/2 PV frequency compared with general population. Forest plot demonstrating the increased frequency of (A) PMS2 and (B) BRCA1/2 PVs in the prospective OPTEC cohort. Frequencies and 95% CIs (Clopper-Pearson exact tests) for OPTEC, three large population studies and the three control populations combined are shown. The OR of the combined population studies is 13.0 (95% CI, 5.3 to 27.4; P = 5.14 × 10^–7) for PMS2 and 2.1 (95% CI, 1.0 to 3.9; P = .03) for BRCA1/2. Because the population studies did not report deletion and insertion mutations, we did not include the cases with scale mutations in our calculation to avoid inflations of the ORs. All, HNV, UKB, and ASPREE combined; ASPREE, ASPirin in Reducing Events in the Elderly trial³⁰; HNV, Healthy Nevada Project³¹; OPTEC, Ohio Prevention and Treatment of Endometrial Cancer; OR, odds ratio; PVs, pathogenic variants; UKB, UK Biobank.²⁹