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Metadata
DOID 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
Synonyms

HNPCC8 [EXACT]

Xrefs

OMIM:613244

Relationships

is_a Lynch syndrome

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