Table 1.
Clinical phenotype of FAP patients tested by MAMA
| Patient no. | MAMA result | IVSP result | Age at diagnosis | No. of polyps | No. of affected family members | Extracolonic features in the family |
|---|---|---|---|---|---|---|
| 1 | No expression | Negative | 54 | >100 | 2 | Cysts |
| 2 | No expression | Negative | 13 | >100 | 5 | Cysts, pancreatic CA |
| 3 | No expression | Negative | 44 | >100 | 32 | Cysts, osteoma |
| 4 | No expression | Negative | 16 | >100 | 2 | Desmoids |
| 5 | No expression | Negative | 29 | >100 | 11 | None |
| 6 | No expression | Negative | 18 | >100 | 4 | Pancreatic CA |
| 7 | Reduced expression | Negative | NA | >100 | 37 | NA |
| 8 | Full-length expression | Negative | 13 | >100 | 3 | None |
| 9 | Full-length expression | Negative | 27 | >100 | 3 | Cysts |
NA, not available.