Lynch syndrome 8
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.
MONDO:0005835
Lynch syndrome
is_a
EPCAM hereditary nonpolyposis colon cancer
exact
HNPCC8
related
colorectal cancer, hereditary nonpolyposis, type 8
exact
hereditary nonpolyposis colon cancer caused by mutation in EPCAM
exact