Visualize Submit Comment

Metadata
ID	DOID:0070270
Name	hereditary nonpolyposis colorectal cancer type 8
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. https://www.ncbi.nlm.nih.gov/pubmed/19098912
Xrefs	MIM:613244
Synonyms	HNPCC8 [EXACT]
Parent Relationships	is_a Lynch syndrome is_a chromosomal deletion syndrome