/Lynch syndrome 8

Lynch syndrome 8

Rare Disease

MONDO:0013196

Also Known As

EPCAM hereditary nonpolyposis colon cancercolorectal cancer, hereditary nonpolyposis, type 8hereditary nonpolyposis colon cancer caused by mutation in EPCAMHNPCC8

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.