Lynch syndrome 8

MONDO:0013196

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: EPCAM hereditary nonpolyposis colon cancer, colorectal cancer, hereditary nonpolyposis, type 8, hereditary nonpolyposis colon cancer caused by mutation in EPCAM, HNPCC8

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