Family | Individual | Sex | Ageb | Cause of death | Mutation | Prediction | P53 activity | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
MP | D | F | C | P | PolyPhen | SIFT | ||||||
PJS03 | I:1 | M | NR | NR | NR | 60 | 60 | Colon cancer | c.250A > T/ p.K84a | NA | NA | Decreased |
II:1a | F | 5 | 31 | 27 | 27 | 33 | Colon cancer | |||||
II:2 | M | 6 | 19 | 26 | – | 28 | – | |||||
PJS06 | II:1 | F | NR | NR | NR | NR | 40 | Lung cancer | c.843insC/ p.P281Pfsa4 | NA | NA | Decreased |
II:2 | M | NR | NR | NR | NR | 39 | Lymphoma | |||||
II:3a | M | 3 | 21 | 21 | 39 | 45 | Colon cancer | |||||
II:4 | F | 3 | 20 | 20 | – | 39 | – | |||||
III:1 | F | 3 | 11 | 18 | – | 30 | – | |||||
PJS09 | II:1 | F | NR | 55 | NR | 65 | 65 | Stomach cancer | c.911G > C/ p.R304P | Probable damaging | Tolerated | Normal |
III:1a | M | 7 | 30 | 30 | – | 51 | – | |||||
PJS11 | Indexa | M | 6 | 37 | 37 | 47 | 47 | Colon cancer | c.962_963delCC/ p.P321Hfsa38 | NA | NA | Normal |
PJS12 | II:1 | M | NR | 43 | 43 | 48 | 52 | Colon cancer | c.1062C > G/ p.F354 L | Benign | Tolerated | Normal |
III:1 | F | 4 | 15 | – | – | 16 | Bowel obstruction | |||||
III:2a | F | 4 | 12 | 12 | – | 29 | – |