Table 1.
Demographic characteristics of MMR mutation carriers
| Total N = 368 |
Cancer N = 260 |
No cancer N = 108 |
P | |
|---|---|---|---|---|
| Sex [N (%)] | ||||
| Male | 151 (41.0) | 108 (71.5) | 43 (28.5) | 0.76 |
| Female | 217 (59.0) | 152 (70.0) | 65 (30.0) | |
| Race [N (%)] | ||||
| White | 307 (83.4) | 216 (70.4) | 91 (29.6) | 0.51 |
| African American | 26 (7.1) | 20 (76.9) | 6 (23.1) | |
| Hispanic | 27 (7.3) | 20 (74.1) | 7 (25.9) | |
| Other | 8 (2.2) | 4 (50.0) | 4 (50.0) | |
| MMR mutation [N (%)] | ||||
| hMLH1 | 152 (41.3) | 105 (69.1) | 47 (30.9) | 0.51 |
| hMSH2 | 197 (53.5) | 139 (70.6) | 58 (29.4) | |
| hMSH6 | 16 (4.4) | 13 (81.3) | 3 (18.7) | |
| hPMS2 | 3 (0.8) | 3 (100.0) | 0 (0.0) | |
| MMR mutation type [N (%)] | ||||
| Deletion | 116 (31.5) | 88 (75.9) | 28 (24.1) | 0.48 |
| Duplication | 2 (0.5) | 2 (100.0) | 0 (0) | |
| Frameshift | 2 (0.5) | 2 (100.0) | 0 (0) | |
| Insertion | 29 (7.9) | 22 (75.9) | 7 (24.1) | |
| Missense | 50 (13.6) | 32 (64.00 | 18 (36.0) | |
| Nonsense | 73 (19.8) | 49 (67.1) | 24 (32.9) | |
| Splice | 96 (26.1) | 65 (67.7) | 31 (32.3) | |
| Location of index cancer [N (%)] | ||||
| Colorectal | 151 (58.1) | 151 (58.1) | – | |
| Extracolonic | 109 (41.9) | 109 (41.9) | – | |
| Age at diagnosis of index cancer (cases) or age at last contact (if no cancer) | ||||
| Mean ± SD | 41.2 (10.6) | 41.3 (10.0) | 40.9 (11.8) | 0.75 |