hereditary nonpolyposis colorectal cancer type 8 (DOID:0070270)
Alliance: disease page
Synonyms: HNPCC8
Alt IDs: OMIM:613244
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.