Table 1
Clinical details and STK11 mutation status of the 38 PJS probands studied
| Patient identifier | Sex | Family history of PJS | Age at diagnosis(years) | Personal history of cancer | Family history of cancer | Mutation | Effect of mutation |
|---|---|---|---|---|---|---|---|
| CRC, colorectal cancer. | |||||||
| Mutation positive | |||||||
| PJS 048 | M | + | 2 | c.180C>A | Y60X | ||
| PJS 038 | M | 7 | c.153delG | M51fs | |||
| PJS 077 | M | + | 13 | Cervix, CRC | c.208G>T | E70X | |
| PJS 068 | M | 23 | c.241A>T | K81X | |||
| PJS 036 | F | 7 | c.336delG | Q112fs | |||
| PJS 060 | F | 16 | Breast | c.368delA | Q123fs | ||
| PJS 052 | F | + | 18 | c.454C>T | Q152X | ||
| PJS 056 | F | + | 8 | Stomach | c.426delC | S142fs | |
| PJS 024 | F | 20 | c.717_718insA | W239fs | |||
| PJS 047 | F | + | 25 | c.814_816insA | Y272X | ||
| PJS 042 | F | + | 10 | Breast | c.843delG | P281fs | |
| PJS 051 | M | + | 4 | c.843delG | P281fs | ||
| PJS 059 | F | + | 4 | c.470T>C | F157S | ||
| PJS 020 | F | + | 15 | c.580G>A | D194N | ||
| PJS 045 | F | + | 10 | Pancreas | c.725G>A | G242E | |
| PJS 035 | F | + | 16 | Breast | Breast | c.910C>T | R304W |
| PJS 069 | F | 21 | c.733+1G>A | Splice site error | |||
| PJS 061 | M | + | 19 | c.921-2A>G | Splice site error | ||
| PJS 033 | M | + | 31 | c.921-2A>G | Splice site error | ||
| PJS 066 | F | 5 | c.1−?_76+?del | Kinase domain deletion | |||
| PJS 115 | F | + | 34 | c.1−?_76+?del | Kinase domain deletion | ||
| PJS 062 | F | + | 13 | c.1−?_76+?del | Kinase domain deletion | ||
| PJS 055 | M | 15 | c.333−?_424+?del | Kinase domain deletion | |||
| PJS 049 | F | + | 22 | c333−?_1302+?del | Kinase domain deletion | ||
| PJS 039 | M | 11 | c.1082−?_1183+?del | Regulatory domain deletion | |||
| Mutation negative | |||||||
| PJS 001 | F | 5 | |||||
| PJS 011 | F | 12 | Astrocytoma | ||||
| PJS 025 | M | 20 | |||||
| PJS 037 | F | + | 38 | ||||
| PJS 040 | M | 26 | |||||
| PJS 064 | M | 5 | |||||
| PJS 067 | M | + | 2 | Stomach | |||
| PJS 070 | F | + | 3 | ||||
| PJS 071 | M | + | 34 | ||||
| PJS 099 | F | <1 | |||||
| PJS 102 | M | 6 | Sertoli | ||||
| PJS 110 | F | <1 | |||||
| PJS 113 | F | + | 34 | Prostate | |||
