Table 4.
Univariate Risk Factors (Polyp Histology) for Germline Mutations in ENG, PTEN, STK11, BMPR1A and SMAD4
| Variable | N | ENG (11; 1.8%) | PTEN (13; 2.2%) | STK11 (13; 2.2%) | BMPR1A (20; 3.3%) | SMAD4 (21; 3.5%) | Any Gene (77; 12.8%) | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
| |||||||||||||
| # | (%) | # | (%) | # | (%) | # | (%) | # | (%) | # | (%) | ||
| Polyp Histology | |||||||||||||
| Hamartomas | |||||||||||||
| 0 | 559 | 10 | (1.8) | 11 | (2.0) | 8 | (1.4) | 16 | (2.9) | 19 | (3.4) | 63 | (11.3) |
| ≥1 | 44 | 1 | (2.3) | 2 | (4.5) | 5 | (11.4) | 4 | (9.1) | 2 | (4.5) | 14 | (31.8) |
| P-value | 0.57 | 0.24 | 0.001 | 0.05 | 0.66 | <0.001 | |||||||
| Juvenile polyps | |||||||||||||
| 0 | 521 | 10 | (1.9) | 13 | (2.5) | 12 | (2.3) | 10 | (1.9) | 9 | (1.7) | 53 | (10.2) |
| 1–17 | 71 | 1 | (1.4) | 0 | (0.0) | 1 | (1.4) | 5 | (7.0) | 10 | (14.1) | 17 | (23.9) |
| ≥18 | 11 | 0 | (0.0) | 0 | (0.00 | 0 | (0.0) | 5 | (45.5) | 2 | (18.2) | 7 | (63.6) |
| P-value | 1.0 | 0.52 | 1.0 | <0.001 | <0.001 | <0.001 | |||||||
| Ganglioneuromas | |||||||||||||
| 0 | 589 | 10 | (1.7) | 9 | (1.5) | 13 | (2.2) | 19 | (3.2) | 21 | (3.6) | 71 | (12.1) |
| ≥1 | 14 | 1 | (7.1) | 4 | (28.6) | 0 | (0.0) | 1 | (7.1) | 0 | (0.0) | 6 | (42.9) |
| P-value | 0.23 | <0.001 | 1.0 | 0.38 | 1.0 | 0.005 | |||||||
| Adenomas | |||||||||||||
| 0–4 | 423 | 10 | (2.4) | 10 | (2.4) | 11 | (2.6) | 15 | (3.5) | 16 | (3.8) | 62 | (14.7) |
| ≥5 | 180 | 1 | (0.6) | 3 | (1.7) | 2 | (1.1) | 5 | (2.8) | 5 | (2.8) | 15 | (8.3) |
| P-value | 0.19 | 0.76 | 0.36 | 0.81 | 0.63 | 0.033 | |||||||
| Mixed histology | |||||||||||||
| No | 588 | 10 | (1.7) | 10 | (1.7) | 12 | (2.0) | 18 | (3.1) | 20 | (3.4) | 69 | (11.7) |
| Yes | 15 | 1 | (6.7) | 3 | (20.0) | 1 | (6.7) | 2 | (13.3) | 1 | (6.7) | 8 | (53.3) |
| P-value | 0.24 | 0.003 | 0.28 | 0.08 | 0.42 | <0.001 | |||||||