Table 2.
List of Published EPCAM Mutations Related to Lynch Syndrome
| Reference | EPCAM mutation | Frequency* | Ethnicity |
|---|---|---|---|
| Ligtenberg et al3 | c.859-1462_*1999del | 4/10 (40%) | Dutch |
| c.555 + 894_*14194del | 2/? | Chinese | |
| Niessen et al21 | c.859-1462_*1999del | 3/11 (27%) | Dutch |
| Kovacs et al4 | g.77631_92364del14734 | 5/27 (19%) | Hungarian |
| g.77436_86109del8674 | |||
| g.79459_85516del6058 | |||
| g.72468_82822del10355 | |||
| Present study | g.77525_86198del8674 | 1/10 (10%) | Spanish |
*
Frequency: number of index subjects with EPCAM deletions/number of index subjects analyzed with loss of MSH2 expression and no MSH2/MSH6 mutation.