Table 2:
Clinical characteristics of individuals with Lynch syndrome
| Lynch syndrome carriers with a personal history of UTC (N=158) | Lynch syndrome carriers without a personal history of UTC (N=3670) | P value | |
|---|---|---|---|
| N (%) | N (%) | ||
| Male | 73 (46.2) | 1324 (36.1) | 0.01 |
| Female | 85 (53.8) | 2346 (63.9) | |
| Median age at LS testing, years (IQR) | 64.0 (57.0, 70.0) | 49.0 (41.0, 58.0) | <0.0001 |
| Median age at UTC diagnosis, years (IQR)* | 56.0 (48.0, 64.0) | - | - |
| Race | 0.05 | ||
| Caucasian/White | 110 (69.6) | 2161 (58.9) | |
| African American/Black | 2 (1.3) | 183 (5.0) | |
| Asian | 3 (1.9) | 108 (2.9) | |
| Other/Multiple | 18 (11.4) | 510 (13.9) | |
| Missing/No Answer | 25 (15.8) | 708 (19.3) | |
| Pathogenic MMR gene variant | <0.0001 | ||
| MLH1 | 26 (16.5) | 1320 (36.0) | |
| EPCAM/MSH2 | 113 (71.5) | 1554 (42.3) | |
| MSH6 | 18 (11.4) | 652 (17.8) | |
| PMS2 | 1 (0.6) | 144 (3.9) | |
| Personal history of Lynch-associated cancer | |||
| Any Lynch syndrome-associated cancer (except UTC) | 140 (88.6) | 3028 (82.5) | 0.047 |
| Colorectal cancer | 119 (75.3) | 2377 (64.8) | 0.006 |
| Endometrial cancer** | 43/85 (50.6) | 865/2346 (36.9) | 0.01 |
| Ovarian cancer** | 5/85 (5.9) | 189/2346 (8.1) | 0.47 |
| Gastric cancer | 5 (3.2) | 36 (1.0) | 0.009 |
| Pancreatic cancer | 2 (1.3) | 21 (0.6) | 0.27 |
| Small bowel cancer | 7 (4.4) | 49 (1.3) | 0.002 |
| Other Lynch syndrome cancer*** | 22 (13.9) | 144 (3.9) | <0.001 |
| Family history of Lynch-associated cancer**** | |||
| Urinary tract cancer | 48 (30.4) | 321 (8.7) | <0.001 |
| Colorectal cancer | 126 (79.7) | 2871 (78.2) | 0.65 |
| Endometrial cancer | 44 (27.8) | 922 (25.1) | 0.44 |
| Ovarian cancer | 25 (15.8) | 386 (10.5) | 0.035 |
| Gastric cancer | 16 (10.1) | 334 (9.1) | 0.66 |
| Pancreatic cancer | 15 (9.5) | 238 (6.5) | 0.14 |
| Small bowel cancer | 6 (3.8) | 64 (1.7) | 0.059 |
| Other Lynch-associated cancer*** | 25 (15.8) | 285 (7.8) | <.001 |
*
Age at UTC diagnosis missing for 19 LS carriers
**
Denominator is for females only
***
Includes hepatobiliary cancers, brain cancers/gliomas, and sebaceous neoplasms of the skin
****
First and second-degree relatives