Table 1:
Clinical characteristics of a cohort of individuals with Lynch syndrome
| Entire cohort (n=607) |
Participants with Lynch-associated skin neoplasm1 (n=56) |
Participants without Lynch-associated skin neoplasm1 (n=551) |
Participants with non-Lynch-associated skin neoplasm (n=91) |
Participants without non-Lynch-associated skin neoplasm (n=516) |
|||
|---|---|---|---|---|---|---|---|
| N (%) | N (%) | N (%) | p-value | N (%) | N (%) | p-value | |
|
| |||||||
| Female | 413 (68.0) | 29 (51.8) | 384 (69.7) | 0.010 | 63 (69.2) | 350 (67.8) | 0.903 |
| Male | 194 (32.0) | 27 (48.2) | 167 (30.3) | 28 (30.8) | 166 (32.2) | ||
| Median age at germline testing, years (IQR) | 50.0 (39.5–61.0) | 55.5 (48.0–66.2) | 50.0 (39.0–60.0) | 0.001 | 60.0 (51.0–67.0) | 49.0 (38.0–59.0) | <0.001 |
| Race | |||||||
| White | 501 (82.5) | 53 (94.6) | 448 (81.3) | 0.132 | 81 (89.0) | 420 (81.4) | 0.177 |
| Black | 11 (1.8) | 0 | 11 (2.0) | 0 | 11 (2.1) | ||
| Asian/Pacific Islander | 15 (2.5) | 1 (1.8) | 14 (2.5) | 1 (1.1) | 14 (2.7) | ||
| Other | 19 (3.1) | 1 (1.8) | 18 (3.3) | 0 | 19 (3.7) | ||
| Missing | 61 (10.0) | 1 (1.8) | 60 (10.9) | 9 (9.9) | 52 (10.1) | ||
| Lynch syndrome gene with pathogenic variant | |||||||
| MLH1 | 137 (22.6) | 13 (23.2) | 124 (22.5) | <0.001 | 22 (24.2) | 115 (22.3) | 0.927 |
| MSH2 | 180 (29.7) | 36 (64.3) | 144 (26.1) | 28 (30.8) | 152 (29.5) | ||
| MSH6 | 145 (23.9) | 7 (12.5) | 138 (25.0) | 20 (22.0) | 125 (24.2) | ||
| PMS2 | 138 (22.7) | 0 | 138 (25.0) | 21 (23.1) | 117 (22.7) | ||
| EPCAM | 7 (1.2) | 0 | 7 (1.3) | 0 | 7 (1.4) | ||
| Personal history of any Lynch-associated visceral malignancy | 363 (59.8) | 43 (76.8) | 320 (58.1) | 0.006 | 62 (68.1) | 301 (58.3) | 0.083 |
| Colorectal cancer | 211 (34.8) | 27 (48.2) | 184 (33.4) | 0.038 | 36 (39.6) | 175 (33.9) | 0.340 |
| Endometrial cancer* | 129/413 (31.2)* | 15/29 (51.7)* | 114/384 (29.7)* | 0.021 | 27/63 (42.9)* | 102/350 (29.1)* | 0.038 |
| Ovarian cancer* | 30/413 (7.3)* | 2/29 (6.9)* | 28/384 (7.3)* | 1.000 | 10/63 (15.9)* | 20/350 (5.7)* | 0.014 |
| Urinary tract cancer | 27 (4.4) | 8 (14.3) | 19 (3.4) | 0.002 | 8 (8.8) | 19 (3.7) | 0.047 |
| Small bowel cancer | 10 (1.6) | 1 (1.8) | 9 (1.6) | 1.000 | 2 (2.2) | 8 (1.6) | 0.651 |
| Gastric cancer | 9 (1.5) | 3 (5.4) | 6 (1.1) | 0.042 | 0 | 9 (1.7) | 0.369 |
| Pancreatic cancer | 10 (1.6) | 0 | 10 (1.8) | 0.610 | 2 (2.2) | 8 (1.6) | 0.651 |
| Hepatobiliary cancer | 5 (0.8) | 2 (3.6) | 3 (0.5) | 0.070 | 1 (1.1) | 4 (0.8) | 0.557 |
| Brain cancer | 4 (0.7) | 0 | 4 (0.7) | 1.000 | 0 | 4 (0.8) | 1.000 |
| Family history of Lynch-associated neoplasm** | |||||||
| Any Lynch-associated skin neoplasm | 33 (5.4) | 9 (16.1) | 24 (4.4) | 0.002 | 9 (9.9) | 24 (4.7) | 0.073 |
| Colorectal cancer | 405 (66.7) | 46 (82.1) | 359 (65.2) | 0.011 | 66 (72.5) | 339 (65.7) | 0.228 |
| Endometrial cancer | 219 (36.1) | 24 (42.9) | 195 (35.4) | 0.307 | 31 (34.1) | 188 (36.4) | 0.723 |
| Ovarian cancer | 72 (11.9) | 5 (8.9) | 67 (12.2) | 0.664 | 11 (12.1) | 61 (11.8) | 1.000 |
| Urinary tract cancer | 126 (20.8) | 18 (32.1) | 108 (19.6) | 0.037 | 27 (29.7) | 99 (19.2) | 0.035 |
| Small bowel cancer | 21 (3.5) | 5 (8.9) | 16 (2.9) | 0.036 | 6 (6.6) | 15 (2.9) | 0.110 |
| Gastric cancer | 69 (11.4) | 8 (14.3) | 61 (11.1) | 0.505 | 11 (12.1) | 58 (11.2) | 0.858 |
| Pancreatic cancer | 64 (10.5) | 5 (8.9) | 59 (10.7) | 0.822 | 8 (8.8) | 56 (10.9) | 0.711 |
| Hepatobiliary cancer | 31 (5.1) | 2 (3.6) | 29 (5.3) | 1.000 | 5 (5.5) | 26 (5.0) | 0.798 |
| Brain cancer | 15 (2.5) | 0 | 15 (2.7) | 0.383 | 1 (1.1) | 14 (2.7) | 0.711 |
*
Denominator includes female participants only
**
Family history in any first- and/or second-degree relative
1
Lynch-associated skin neoplasms are defined as sebaceous neoplasms and keratoacanthomas
IQR = interquartile range