has material basis in germline mutation in EPCAM Lynch syndrome Lynch syndrome 8 https://github.com/monarch-initiative/mondo/issues/5666 https://www.malacards.org/card/lynch_syndrome_8 MEDGEN:412966 EPCAM hereditary nonpolyposis colon cancer hereditary nonpolyposis colon cancer caused by mutation in EPCAM MESH:C567685 DOID:0070270 OMIM:613244 UMLS:C2750471 This disease is specifically caused by a deletion of the 3′ end of the EPCAM gene, including its polyadenylation signal. Other variations in the EPCAM genes are NOT associated with Lynch syndrome. (PMID:23264089; https://www.clinicalgenome.org/working-groups/clinical-domain/hereditary-cancer/) GARD:0015638 colorectal cancer, hereditary nonpolyposis, type 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. HNPCC8 MONDO:0013196