Table 4:
Gene | P/LP Variant | Age of cancer diagnosis (years) | Type of cancer |
---|---|---|---|
BMPR1A | c.1433G>A | 26 | Colon |
c.44_47delTGTT | 68 | Pancreas | |
c.182G>A | 44 | Rectosigmoid | |
SMAD4 | c.372_373dupTA | 45;64 | Gastric; Colon |
c.692dupG | 29 | Gastric | |
c.692dupG | 39 | Cervical | |
c.692dupG | 46 | Esophageal | |
c.1507_1508insATCC | 44 | Breast cancer | |
c.1206dupT | 24 | Colon | |
c.1447+2T>C | 48 | Papillary thyroid cancer | |
c.403C>T | 39 | Colon | |
c.1308+2T>G | 47 | Colon | |
c.1231_1232delAG | 28 | Colon | |
c.1245_1248delGACA | 15 | Gastric | |
No disease-causing variant | NA | 55 | Colon |
NA | 34 | Bladder |
Bolded cancers were considered within the JPS spectrum