EPCAM

2 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

Redefining the EPCAM Phenotype: Deletion Architecture Determines Lynch Syndrome Cancer Risk

Lynch syndrome (EPCAM deletions)

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

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

How is a EPCAM-related condition inherited?+

Autosomal dominant

What is the clinical spectrum associated with EPCAM?+

Colorectal, endometrial cancer (Lynch syndrome)

What is the management associated with EPCAM?+

Surveillance colonoscopy; management per Lynch guidelines.

How many Geno'X publications cover the EPCAM gene?+

2 publication(s) on EPCAM have been selected, summarised and scored by Geno'X on a public grading grid (domains: Cancer genetics).