Table 2
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%)