hereditary nonpolyposis colorectal cancer type 8

Term ID

DOID:0070270

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. https://www.ncbi.nlm.nih.gov/pubmed/19098912

References

• MIM:613244

Ontology

Human Disease   ( DOID:0070270 )