Table 1.
Clinical History of Probands According to Mutation Status, by Gene
| Characteristics | Total | No Mutation | MLH1 | MSH2 | MSH6 | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| N | N | (%) | N | (%) | N | (%) | N | (%) | p- value* |
||
| Total | 4539 | (100) | 4014 | (88) | 204 | (4) | 250 | (6) | 71 | (2) | NA |
| Male | 1214 | (27) | 1024 | (26) | 88 | (43) | 86 | (34) | 16 | (23) | <0.001 |
| Personal History: | |||||||||||
| CRC | |||||||||||
| 0 | 2013 | (44) | 1859 | (46) | 45 | (22) | 78 | (31) | 31 | (44) | <0.001 |
| 1 | 2357 | (52) | 2045 | (51) | 135 | (66) | 142 | (57) | 35 | (49) | |
| ≥2 | 169 | (4) | 110 | (3) | 24 | (12) | 30 | (12) | 5 | (7) | |
| Adenoma | 701 | (15) | 642 | (16) | 21 | (10) | 31 | (12) | 7 | (10) | 0.04 |
| Endometrial Cancer | 615 | (14) | 473 | (16) | 36 | (31) | 74 | (45) | 32 | (58) | <0.001 |
| (among females) | |||||||||||
| Other LS cancers | 441 | (10) | 361 | (9.0) | 19 | (9) | 53 | (21) | 8 | (11) | <0.001 |
| Multiple LS cancers | 521 | (11) | 380 | (9) | 40 | (20) | 83 | (33) | 18 | (25) | <0.001 |
| No LS cancers | |||||||||||
| (unaffected) | 927 | (20) | 896 | (22) | 12 | (6) | 15 | (6) | 4 | (6) | <0.001 |
| FDR with history of: | |||||||||||
| CRC, # of relatives | |||||||||||
| 0 | 2599 | (57) | 2415 | (60) | 67 | (33) | 75 | (30) | 42 | (59) | <0.001 |
| 1 | 1490 | (33) | 1274 | (32) | 77 | (38) | 114 | (46) | 25 | (35) | |
| ≥2 | 450 | (10) | 325 | (8) | 60 | (29) | 61 | (24) | 4 | (6) | |
| Endometrial Cancer | |||||||||||
| 0 | 4082 | (90) | 3667 | (91) | 167 | (82) | 197 | (79) | 51 | (72) | <0.001 |
| 1 | 406 | (9) | 315 | (8) | 34 | (17) | 44 | (17) | 13 | (18) | |
| ≥2 | 51 | (1) | 32 | (1) | 3 | (2) | 9 | (4) | 7 | (10) | |
| Other LS cancers | |||||||||||
| 0 | 3878 | (85) | 3447 | (86) | 177 | (87) | 201 | (81) | 53 | (75) | 0.01 |
| 1 | 604 | (13) | 519 | (13) | 24 | (12) | 43 | (17) | 18 | (25) | |
| ≥2 | 57 | (1) | 48 | (1) | 3 | (1) | 6 | (2) | 0 | (0) | |
| SDR with history of: | |||||||||||
| CRC, # of relatives | |||||||||||
| 0 | 3105 | (68) | 2721 | (68) | 124 | (61) | 155 | (62) | 48 | (67) | 0.01 |
| 1 | 1045 | (23) | 922 | (23) | 50 | (25) | 57 | (23) | 16 | (23) | |
| ≥2 | 446 | (10) | 371 | (9) | 30 | (15) | 38 | (15) | 7 | (10) | |
| Endometrial Cancer | |||||||||||
| 0 | 4230 | (93) | 3748 | (93) | 191 | (93) | 228 | (91) | 63 | (89) | 0.31 |
| 1 | 273 | (6) | 235 | (6) | 12 | (6) | 18 | (7) | 8 | (11) | |
| ≥2 | 36 | (1) | 31 | (1) | 1 | (1) | 4 | (2) | 0 | (0) | |
CRC=colorectal cancer, LS= Lynch Syndrome, FDR=first-degree relative, SDR=second-degree relative;
*
ANOVA test for comparison of 4 groups