Table 3.
Results of gene-level association tests in All, CDKN2A+, and CDKN2A− PC patients versus 1001 population controls
| All PC Cases (n=66) | CDKN2A+ PC Cases (n=43) | CDKN2A− PC Cases (n=23) | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Gene | Number of Controls with rare variant | Number of PC Cases with rare variant | No. Families with rare variant | p-value [All PC Cases vs controls] | Number of CDKN2A+ PC Cases with rare variant | No. Families with rare variant | p-value [CDKN2A+ PC cases vs controls] | Number of CDKN2A− PC Cases with rare variant | p-value [CDKN2A− PC cases vs controls] | p-value, Fisher's exact test [CDKN2A− PC cases vs controls]* |
| APC | 43 | 1 | 1 | 0.931 | 1 | 1 | 0.823 | 0 | -- | -- |
| ATM | 51 | 5 | 5 | 0.237 | 0 | 0 | -- | 5 | 0.006 | 0.005 |
| BRCA1 | 26 | 3 | 2 | 0.24 | 2 | 1 | 0.317 | 1 | 0.459 | 0.463 |
| BRCA2 | 52 | 4 | 4 | 0.414 | 1 | 1 | 0.864 | 3 | 0.108 | 0.116 |
| CASR | 7 | 1 | 1 | 0.374 | 0 | 0 | -- | 1 | 0.157 | 0.167 |
| CFTR | 61 | 5 | 4 | 0.384 | 4 | 3 | 0.285 | 1 | 0.721 | 0.725 |
| CPA1 | 12 | 2 | 2 | 0.211 | 0 | 0 | -- | 2 | 0.021 | 0.037 |
| FANCA | 51 | 1 | 1 | 0.959 | 0 | 0 | -- | 1 | 0.715 | 1.000 |
| MLH1 | 19 | 1 | 1 | 0.687 | 1 | 1 | 0.499 | 0 | -- | -- |
| MSH2 | 19 | 3 | 3 | 0.128 | 2 | 2 | 0.2 | 1 | 0.357 | 0.368 |
| MSH6 | 17 | 3 | 3 | 0.092 | 2 | 2 | 0.179 | 1 | 0.303 | 0.338 |
| PALB2 | 12 | 1 | 1 | 0.527 | 0 | 0 | -- | 1 | 0.253 | 0.257 |
| PALLD | 19 | 1 | 1 | 0.694 | 1 | 1 | 0.517 | 0 | -- | -- |
| PMS2 | 30 | 5 | 5 | 0.057 | 2 | 2 | 0.367 | 3 | 0.038 | 0.032 |
| TP53 | 7 | 1 | 1 | 0.365 | 0 | 0 | -- | 1 | 0.166 | 0.167 |
PC, pancreatic cancer
*
Gene-level association tests also computed using Fisher's exact test for comparison purposes.