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Lynch syndrome 8
rareAny 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.
- Identifiers
- MONDO:0013196 OMIM:613244
- Causal genes
- EPCAM
- Part of
- Lynch syndrome
- Also known as
- colorectal cancer, hereditary nonpolyposis, type 8 · EPCAM hereditary nonpolyposis colon cancer · hereditary nonpolyposis colon cancer caused by mutation in EPCAM · HNPCC8
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