Table 7.
Description of APC mutations and correlation with phenotypic abnormalities among the families analyzed
| ID | Codon | N | DT | Brain Tumors | Osteomas | CHRPE | Thyroid CN/Ca | Stomach Ca | Duodenal PapillaryCa |
|---|---|---|---|---|---|---|---|---|---|
| 32 | 1958 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 17 |
Deletion of exons 1 to 15 |
1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 12 | Deletion of exon 15, 578 | 3 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 23 | 719 | 2 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 2 | 213 | 11 | 1 | 0 | 3 | 0 | 2 | 0 | 0 |
|
30 33 |
232 | 3 | 1 | 0 | 1 | 1 | 0 | 0 | 0 |
|
10 21 |
283 | 3 | 0 | 0 | 1 | 0 | 0 | 0 | 0 |
|
5 11 19 24 |
302 | 14 | 1 | 0 | 1 | 0 | 0 | 0 | 0 |
| 22 | 554 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 0 |
| 15 | 805 | 2 | 0 | 0 | 0 | 1 | 0 | 0 | 0 |
| 14 | 1017 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 |
| 7 | 849 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 |
| 6 | 1041 | 2 | 1 | 0 | 0 | 0 | 0 | ||
|
1 16 25 29 |
1062 | 15 | 0 | 0 | 1 | 7 | 4 | 0 | 0 |
| 27 | 1260 | 4 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 20 | 1328 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 31 | 541 | 4 | 0 | 0 | 0 | 0 | 1 | 0 | 0 |
|
3 18 26 |
1309 | 8 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| 35 | 287 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 34 | 1060 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | 0 |
| 8 | 1104 | 2 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 28 | 713 | 3 | 0 | 0 | 1 | 0 | 0 | 0 | 0 |
| 13 | 1166 | 1 | 0 | 0 | 0 | 0 | 0 | 1 | 0 |
| 4 | 1179 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 9 | 986 | 13 | 3 | 1 | 0 | 0 | 0 | 1 | 0 |
| Total | 99 | 9 | 1 | 10 | 9 | 8 | 2 | 1 | |
Ca, cancer; CHRPE, congenital hypertrophy of the retinal pigment epithelium; CN, complex thyroid nodules; DT, desmoid tumor; ID, family identification; N, number of individuals.