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| Term | hereditary nonpolyposis colorectal cancer type 8 | ID (Ontology) | DOID:0070270 (Human Disease) |
| 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. | ||
| Also Known As | "HNPCC8" | ||
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autosomal dominant disease |__Lynch syndrome_________________ chromosomal disease | |__chromosomal deletion syndrome__| syndrome | |__Lynch syndrome_________________| hereditary nonpolyposis colorectal cancer type 8 |
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| Is a |
chromosomal deletion syndrome Lynch syndrome |
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| MIM:613244 | |||