Summary results from the Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome studies for white European men* (22 301 prostate cancer cases and 22 320 controls)
| Variant | Frequency† Controls | Frequency† Cases | OR (95% CI) | LRT p Value |
|---|---|---|---|---|
| PALB2 | ||||
| c.1592delT (p.Leu531Cysfs) | 0.00018 | 0.00031 | 2.06 (0.59 to 7.11) | 0.24 |
| c.2816T>G (p.Leu939Trp) | 0.00354 | 0.00381 | 0.95 (0.69 to 1.29) | 0.73 |
| c.3113G>A (p.Trp1038*) | 0.00045 | 0.00027 | 0.49 (0.18 to 1.36) | 0.16 |
| CHEK2‡ | ||||
| c.349A>G (p.Arg117Gly) | 0.00063 | 0.00081 | 1.46 (0.71 to 3.02) | 0.30 |
| c.538C>T (p.Arg180Cys) | 0.00341 | 0.00296 | 1.02 (0.73 to 1.44) | 0.90 |
| c.715G>A (p.Glu239Lys) | 0.00018 | 0.00027 | 1.47 (0.41 to 5.35) | 0.55 |
| c.1036C>T (p.Arg346Cys) | 0.00018 | 0.00022 | 1.07 (0.28 to 4.07) | 0.93 |
| c.1312G>T (p.Asp438Tyr) | 0.00049 | 0.00103 | 2.21 (1.06 to 4.63) | 0.03 |
| c.1343T>G (p.Ile448Ser) | 0 | 0.00009 | – | – |
| c.1343T>G (Africans§) | 0.019 | 0.057 | 3.03 (1.53 to 6.03) | 0.001 |
| ATM | ||||
| c.7271T>G (p.Val2424Gly) | 0.00004 | 0.00027 | 4.37 (0.52 to 36.4) | 0.17 |
*For white European men, unless otherwise indicated.
†Proportion of subjects carrying the variant.
‡CHEK2 c.1343T>G (p.Ile448Ser) was the only CHEK2 variant observed in African men and was identified in two cases and no controls of white European origin.
§Based on data from 623 and 569 African-American cases and controls, respectively.
LRT, likelihood ratio test; OR, OR for carriers of the variant versus common-allele homozygotes, adjusted for study and seven principal components.