Table 3.
Univariate Risk Factors (Clinical Characteristics) 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%) | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
| |||||||||||||
| # | (%) | # | (%) | # | (%) | # | (%) | # | (%) | # | (%) | ||
| Clinical Characteristics | |||||||||||||
| Age, years | |||||||||||||
| <40 | 155 | 3 | (1.9) | 3 | (1.9) | 7 | (4.5) | 6 | (3.9) | 11 | (7.1) | 30 | (19.4) |
| ≥40 | 448 | 8 | (1.8) | 10 | (2.2) | 6 | (1.3) | 14 | (3.1) | 10 | (2.2) | 47 | (10.5) |
| P-value | 1.0 | 1.0 | 0.047 | 0.61 | 0.009 | 0.008 | |||||||
| Gender | |||||||||||||
| F | 360 | 5 | (1.4) | 7 | (1.9) | 4 | (1.1) | 11 | (3.1) | 10 | (2.8) | 37 | (10.3) |
| M | 243 | 6 | (2.5) | 6 | (2.5) | 9 | (3.7) | 9 | (3.7) | 11 | (4.5) | 40 | (16.5) |
| P-value | 0.36 | 0.78 | 0.044 | 0.65 | 0.26 | 0.034 | |||||||
| Number of polyps | |||||||||||||
| 5–29 | 461 | 10 | (2.2) | 8 | (1.7) | 9 | (2.0) | 9 | (2.0) | 14 | (3.0) | 50 | (10.8) |
| ≥30 | 142 | 1 | (0.7) | 5 | (3.5) | 4 | (2.8) | 11 | (7.7) | 7 | (4.9) | 27 | (19.0) |
| P-value | 0.47 | 0.20 | 0.52 | 0.002 | 0.30 | 0.014 | |||||||
| Family history of colonic polyps | |||||||||||||
| No | 308 | 5 | (1.6) | 8 | (2.6) | 7 | (2.3) | 7 | (2.3) | 5 | (1.6) | 32 | (10.4) |
| Yes | 295 | 6 | (2.0) | 5 | (1.7) | 6 | (2.0) | 13 | (4.4) | 16 | (5.4) | 45 | (15.3) |
| P-value | 0.77 | 0.58 | 1.0 | 0.17 | 0.013 | 0.09 | |||||||
| Personal history of CRC | |||||||||||||
| No | 484 | 7 | (1.4) | 11 | (2.3) | 12 | (2.5) | 16 | (3.3) | 20 | (4.1) | 65 | (13.4) |
| Yes | 119 | 4 | (3.4) | 2 | (1.7) | 1 | (0.8) | 4 | (3.4) | 1 | (0.8) | 12 | (10.1) |
| P-value | 0.24 | 1.0 | 0.48 | 1.0 | 0.10 | 0.36 | |||||||
| Family history of CRC | |||||||||||||
| No | 278 | 5 | (1.8) | 13 | (4.7) | 8 | (2.9) | 10 | (3.6) | 16 | (5.8) | 51 | (18.3) |
| Yes | 325 | 6 | (1.8) | 0 | (0.0) | 5 | (1.5) | 10 | (3.1) | 5 | (1.5) | 26 | (8.0) |
| P-value | 1.0 | <0.001 | 0.28 | 0.82 | 0.006 | <0.001 | |||||||