From: Germline deletions in the EPCAM gene as a cause of Lynch syndrome – literature review
Gene inactivation | Cancer risk | |||
---|---|---|---|---|
EPCAM | MSH2 | Colorectal | Endometrial | |
3’ end EPCAM deletion | Yes | Mosaic | High | Low |
EPCAM-MSH2 deletion | Yes | Yes | High | High |
Intragenic MSH2 deletion | No | Yes | High | High |