Lynch syndrome 8

Definition

Any hereditary nonpolyposis colon cancer in which the cause of the disease is a heterozygous deletion of 3-prime exons of the EPCAM gene and intergenic regions directly upstream of the MSH2 gene, resulting in transcriptional read-through and epigenetic silencing of MSH2 in tissues expressing EPCAM.

Also known as colorectal cancer, hereditary nonpolyposis, type 8, EPCAM hereditary nonpolyposis colon cancer, hereditary nonpolyposis colon cancer caused by mutation in EPCAM — per MONDO

Also identified as

• DOID 0070270 per MONDO
• MESH C567685 per MONDO
• OMIM 613244 per MONDO
• UMLS C2750471 per MONDO