Table 2.
Prevalence of Mutations by Adenoma Count (n=7225)
|
Cumulative
Adenoma Count |
≥ 1000
Classic Polyposis (n=119) |
100-999
Classic Polyposis (n=1338) |
20-99
Attenuated Polyposis (n=3253) |
10-19
(n=970) |
< 10
(n=1147) |
Missing Adenoma
Count (n=398) |
Total
(n=7225) |
||||||
| Alteration |
n/
total |
% (95%CI) |
n/
total |
% (95%CI) |
n/
total |
% (95%CI) |
n/
total |
% (95%CI) |
n/
total |
% (95%CI) |
n/
total |
% (95%CI) | n (%) |
| Pathogenic APC mutation |
95 | 80 (71-87) |
756 | 56 (54-59) |
326 | 10 (9-11) |
50 | 5 (4-7) |
44 | 4 (3-5) |
109 | 27 (23-32) |
1380 (19) |
| CRC in FDR | 36/ 44 |
82 (68-87) |
295/ 457 |
65 (60-69) |
142/ 954 |
15 (13-17) |
18/ 287 |
6 (4-10) |
19/ 372 |
5 (3-8) |
39/ 121 |
32 (24-41) |
549 (40) |
| No CRC in FDR | 59/ 75 |
79 (71-87) |
461/ 881 |
52 (49-56) |
184/ 2299 |
8 (7-9) |
32/ 683 |
5 (3-6) |
25/ 775 |
5 (2-5) |
70/ 277 |
25 (20-31) |
831 (60) |
| Pathogenic biallelic MUTYH mutation |
2 | 2 (0.2-6) |
94 | 7 (6-8) |
233 | 7 (6-8) |
37 | 4 (3-5) |
19 | 2 (1-3) |
16 | 4 (2-6) |
401 (6) |
| CRC in FDR | 2/ 44 |
4 (0.60-15) |
25/ 457 |
5 (4-8) |
52/ 954 |
5 (4-7) |
5/ 287 |
2 (0.5-4) |
4/ 372 |
1 (0.29-3) |
6/ 121 |
5 (2-10) |
94 (23) |
| No CRC in FDR | 0/ 75 |
0 (0-5) |
69/ 881 |
8 (6-10) |
181/ 2299 |
8 (7-9) |
32/ 683 |
5 (3-6) |
15/ 775 |
2 (1-3) |
10/ 277 |
4 (2-6) |
307 (77) |
| Pathogenic monoallelic MUTYH mutation |
0 | 0 (0-3) |
15 | 1 (0.6-2) |
74 | 2 (2-3) |
12 | 1 (0.6-2) |
28 | 2 (2-3) |
6 | 2 (0.6-3) |
135 (2) |
| Non-pathogenic/ no alteration |
22 | 18 (12-26) |
473 | 35 (33-38) |
2620 | 81 (79-82) |
871 | 90 (88-92) |
1056 | 92 (90-94) |
267 | 67 (62-72) |
5309 (73) |