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 ) |