Table 1 Fifty-four recurrent mutations identified in APC gene and age of onset in a group of 124 diagnosed Polish FAP families
No. | Family | Clinical manifestation | Mutation | Exon | Age of onset |
|---|---|---|---|---|---|
1. | 9001 | FAP | 1490–1491insT | 11 | 35 |
2. | 9129 | FAP | 1490–1491insT | 11 | 10 |
3. | 9117 | FAP | 1500T>A | 11 | ND |
4. | 9141 | FAP | 1500T>A | 11 | ND |
5. | 9158 | FAP | 1500T>A | 11 | ND |
6. | 9182 | FAP | 1500T>A | 11 | ND |
7. | 9031 | FAP | 2626subC>T | 15 | ND |
8. | 9043 | FAP | 2626subC>T | 15 | 30 |
9. | 9099 | FAP | 2932C>T | 15 | ND |
10. | 9139 | FAP | 2932C>T | 15 | ND |
11. | 9152 | FAP | 2932C>T | 15 | ND |
12. | 9028 | FAP | 3183–3187delACAAA | 15 | 28 |
13. | 9067 | FAP | 3183–3187delACAAA | 15 | 19 |
14. | 9093 | FAP | 3183–3187delACAAA | 15 | 17 |
15. | 9108 | FAP | 3183–3187delACAAA | 15 | ND |
16. | 9111 | FAP | 3183–3187delACAAA | 15 | ND |
17. | 9192 | FAP | 3183–3187delACAAA | 15 | ND |
18. | 9262 | FAP | 3183–3187delACAAA | 15 | 24 |
19. | 9311 | FAP | 3183–3187delACAAA | 15 | ND |
20. | 9088 | FAP | 3202–3205delTCAA | 15 | 30 |
21. | 9106 | FAP | 3202–3205delTCAA | 15 | 26 |
22. | 9213 | FAP | 3202–3205delTCAA | 15 | 28 |
23. | 9226 | FAP | 3202–3205delTCAA | 15 | ND |
24. | 9342 | FAP | 3202–3205delTCAA | 15 | 12 |
25. | 9016 | FAP | 3927–3931delAAAGA | 15 | 20 |
26. | 9032 | FAP | 3927–3931delAAAGA | 15 | ND |
27. | 9036 | FAP | 3927–3931delAAAGA | 15 | 13 |
28. | 9059 | FAP | 3927–3931delAAAGA | 15 | 18 |
29. | 9065 | FAP | 3927–3931delAAAGA | 15 | 36 |
30. | 9069 | FAP | 3927–3931delAAAGA | 15 | ND |
31. | 9071 | FAP | 3927–3931delAAAGA | 15 | 36 |
32. | 9075 | FAP | 3927–3931delAAAGA | 15 | ND |
33. | 9084 | FAP | 3927–3931delAAAGA | 15 | ND |
34. | 9103 | FAP | 3927–3931delAAAGA | 15 | 26 |
35. | 9104 | FAP | 3927–3931delAAAGA | 15 | ND |
36. | 9105 | FAP | 3927–3931delAAAGA | 15 | 20 |
37. | 9118 | FAP | 3927–3931delAAAGA | 15 | ND |
38. | 9142 | FAP | 3927–3931delAAAGA | 15 | ND |
39. | 9147 | FAP | 3927–3931delAAAGA | 15 | 29 |
40. | 9149 | FAP | 3927–3931delAAAGA | 15 | 16 |
41. | 9162 | FAP | 3927–3931delAAAGA | 15 | ND |
42. | 9187 | FAP | 3927–3931delAAAGA | 15 | ND |
43. | 9193 | FAP | 3927–3931delAAAGA | 15 | ND |
44. | 9229 | FAP | 3927–3931delAAAGA | 15 | 22 |
45. | 9235 | FAP | 3927–3931delAAAGA | 15 | ND |
46. | 9237 | FAP | 3927–3931delAAAGA | 15 | 21 |
47. | 9244 | FAP | 3927–3931delAAAGA | 15 | 16 |
48. | 9292 | FAP | 3927–3931delAAAGA | 15 | 19 |
49. | 9300 | FAP | 3927–3931delAAAGA | 15 | 17 |
50. | 9312 | FAP | 3927–3931delAAAGA | 15 | ND |
51. | 9321 | FAP | 3927–3931delAAAGA | 15 | 31 |
52. | 9324 | FAP | 3927–3931delAAAGA | 15 | ND |
53. | 9070 | Gardner syndrome | 4129–4130delGT | 15 | ND |
54. | 9119 | FAP | 4129–4130delGT | 15 | ND |