Table 1.
Mean age at diagnosis and cumulative risk by age 70 of colorectal and endometrial cancer in Lynch mutation carriers
| EPCAM | EPCAM-MSH21 | MSH2 | MSH6 | MLH1 | |
|---|---|---|---|---|---|
| Families (n) | 41 | 7 | 32 | 26 | 26 |
| Mutation carriers (n) | 194 | 42 | 143 | 160 | 128 |
| Colorectal cancer: | |||||
| Carriers affected (n) | 93 | 18 | 60 | 45 | 68 |
| Mean age at diagnosis (yrs (range)) | 43 (18-79)2 | 41 (21-58) | 44 (19-65) | 54 (32-79) | 44 (22-78) |
| Cumulative risk (%[95%CI]) | 75 [65-85]3 | 69 [47-91] | 77 [64-90] | 50 [38-62] | 79 [68-90] |
| Excess risk (%)4 | 73 | 67 | 75 | 48 | 77 |
| Endometrial cancer: | |||||
| Female carriers (n) | 92 | 15 | 78 | 87 | 67 |
| Carriers affected (n) | 3 | 5 | 20 | 20 | 11 |
| Mean age at diagnosis (yrs (range)) | 49 (43-56) | 42 (33-51) | 47 (33-61) | 50 (28-72) | 52 (46-64) |
| Cumulative risk (%[95%CI]) | 12 [0-27]5 | 55 [20-90] | 51 [33-69] | 34 [20-48] | 33 [15-51] |
| Excess risk (%)5 | 11 | 54 | 50 | 33 | 32 |
| Ratio of females colorectal to endometrial cancer (n/n) |
12.3 | 0.8 | 1.6 | 1.1 | 2.9 |
Combined deletion of EPCAM and MSH2
Mean age at diagnosis of first colorectal cancer in EPCAM deletion carriers was based on the data of 91 affected carriers, because in two carriers the exact age at onset was not known
The cumulative risk of colorectal cancer was based on the data of 186 EPCAM deletion carriers
In the Netherlands, the cumulative risk at 70 years of age (for both sexes combined) of developing colorectal cancer is 2.5%. For endometrial cancer this risk is 1.6% (source Kiemeney et al (17) and Netherlands Cancer Registry at www.ikcnet.nl(18)). In the USA, these risks are 1.9% and 1.6%, respectively among caucasians (source www.seer.cancer.gov(19)).
The cumulative risk of endometrial cancer was based on the data of 87 EPCAM deletion carriers