Type of mutations found in PJS patients with and without cancer
| PJS without cancer (n = 83) | PJS with cancer (n = 49) | |
|---|---|---|
| Truncation (n = 79) | 46/79 (58%) | 33/79 (42%) |
| Missense (n = 29) | 16/29 (55%) | 13/29 (45%) |
| Splice site (n = 15) | 12/15 (80%) | 3/15 (20%) |
| Inframe deletion (n = 9) | 9/9 (100%) | 0/9 (0%) |