Summary results from the Ovarian Cancer Association Consortium studies for white European women (14 542 invasive ovarian cancer cases and 23 491 controls)
| Variant | Frequency* Controls | Frequency* Cases | OR (95% CI) | LRT p Value |
|---|---|---|---|---|
| PALB2 | ||||
| c.1592delT (p.Leu531Cysfs) | 0.00004 | 0.00012 | 2.50 (0.21 to 29.1) | 0.45 |
| c.2816T>G (p.Leu939Trp) | 0.00413 | 0.00399 | 0.96 (0.69 to 1.34) | 0.81 |
| c.3113G>A (p.Trp1038*) | 0.00034 | 0.00031 | 1.34 (0.36 to 4.97) | 0.66 |
| CHEK2 | ||||
| c.349A>G (p.Arg117Gly) | 0.00038 | 0.00031 | 1.07 (0.32 to 3.60) | 0.92 |
| c.538C>T (p.Arg180Cys) | 0.00128 | 0.00160 | 1.49 (0.83 to 2.67) | 0.18 |
| c.715G>A (p.Glu239Lys) | 0.00021 | 0.00037 | 1.47 (0.42 to 5.22) | 0.54 |
| c.1036C>T (p.Arg346Cys)‡ | 0 | 0 | – | – |
| c.1312G>T (p.Asp438Tyr) | 0.00081 | 0.00074 | 0.92 (0.42 to 1.99) | 0.83 |
| c.1343T>G (p.Ile448Ser) | 0.00009 | 0 | – | – |
| ATM | ||||
| c.7271T>G (p.Val2424Gly) | 0 | 0.00012 | – | – |
*Proportion of subjects carrying the variant.
‡c.1036C>T (p.Arg346Cys) was not observed in any sample.
LRT, likelihood ratio test; OR, OR for carriers of the variant versus common-allele homozygotes, adjusted for study and seven principal components.