Term Name: hereditary nonpolyposis colorectal cancer type 8
Synonyms: HNPCC8
Definition: A Lynch syndrome that has_material_basis_in heterozygous deletion of the 3' part of the EPCAM gene and intergenic regions adjacent to the MSH2 gene on chromosome 2p21. This results in transcriptional read-through and silencing of MSH2 in tissues expressing EPCAM.
Ontology: Human Disease [DOID:0070270]   ( DOID:0070270 )

Relationships
is a type of: chromosomal deletion syndrome Lynch syndrome