Table 2.
Gene | Controls* | OR | (95% CI) | P |
BAP1 | ExAC | 1,458 | (196, 10,843) | <10e-30 |
WHI | 393 | (53, 2,923) | <10e-30 | |
BRCA2 | ExAC | 2.80 | (1.02, 7.66) | 0.036 |
WHI | 5.67 | (1.82, 17.65) | 0.0007 | |
CHEK2 | ExAC | 3.29 | (1.61, 6.75) | 0.00004 |
WHI | 4.28 | (1.96, 9.34) | 0.0006 | |
MLH1 | ExAC | 20.9 | (2.16, 201.0) | 0.00008 |
MRE11A | ExAC | 6.98 | (1.62, 30.19) | 0.002 |
WHI | 6.78 | (1.31, 35.04) | 0.008 | |
PALB2 | ExAC | 5.24 | (1.24, 22.23) | 0.012 |
WHI | 4.84 | (1.00, 23.37) | 0.030 | |
POT1 | ExAC | 8.94 | (1.11, 72.84) | 0.013 |
Control series are ExAC: Exome Aggregation Consortium with exomes from TCGA removed, n = 27,173; and WHI: Women’s Health Initiative participants, age >70 y and cancer free, n = 7,325. All patients with damaging mutations were of European ancestry, so only European ancestry controls were included in analyses.