EPCAM

1 article(s) in the watch · Cancer genetics

Deletions of the 3' end of EPCAM silence the adjacent MSH2 gene by methylation, causing Lynch syndrome.

InheritanceAutosomal dominant

Clinical spectrumColorectal, endometrial cancer (Lynch syndrome)

ManagementSurveillance colonoscopy; management per Lynch guidelines.

Curated publications

Identification of a novel intergenic EPCAM-MSH2 deletion causing EPCAM-associated Lynch syndrome

Lynch syndrome — novel EPCAM-MSH2 intergenic deletion, MSH2 epigenetic silencing mechanism