How does EPCAM cause Lynch syndrome?

EPCAM deletions lead to a transcriptional read-through, silencing MSH29 and are estimated to cause Lynch syndrome in ∼20–25% of patients with MSH2-negative cancers, but no detectable MSH2 germline mutation. This corresponds to ∼2–3% of Lynch syndrome patients.

What does EPCAM bind to?

Later, Schön and colleagues21 reported that the extracellular domain of EpCAM is covalently bound to a protein of a high molecular weight, which is located in the extracellular matrix.

What type of gene is EPCAM?

Protein Coding gene
EPCAM (Epithelial Cell Adhesion Molecule) is a Protein Coding gene. Diseases associated with EPCAM include Diarrhea 5, With Tufting Enteropathy, Congenital and Colorectal Cancer, Hereditary Nonpolyposis, Type 8. Among its related pathways are Adhesion and Response to elevated platelet cytosolic Ca2+.

What is Lynch disease?

Lynch syndrome, also known as hereditary non-polyposis colorectal cancer (HNPCC), is the most common cause of hereditary colorectal (colon) cancer. People with Lynch syndrome are more likely to get colorectal cancer and other cancers, and at a younger age (before 50), including.

What is EpCAM CD 326?

EpCAM (Epithelial Cell Adhesion Molecule; CD326) is a surface glycoprotein expressed in developing and adult epithelia, and selected carcinomas. EpCAM was initially reported to mediate homophilic adhesion but subsequent studies have suggested that EpCAM is not a typical intercellular adhesion molecule [1].

Is EpCAM involved in the maintenance of embryonic stem cell phenotype?

Gonzalez B., Denzel S., Mack B., Conrad M., Gires O. EpCAM is involved in maintenance of the murine embryonic stem cell phenotype. Stem Cells. 2009;27:1782–1791. doi: 10.1002/stem.97.

What is EpCAM?

EpCAM is a type-I transmembrane protein, and is expressed primarily on the basolateral surface of most epithelia. Although normal epithelia express low levels of EpCAM, increased expression has been correlated with increased proliferation and progression to a mesenchymal phenotype.

Does EpCAM need the EGF-like domain to bind to claudin-7?

A novel interaction of EpCAM was found with the serine-phosphorylated version of claudin-7, a protein found in tight junctions and the basolateral side of epithelia. Crosslinking experiments implied that interaction with EpCAM was direct and does not require the EGF-like and TY domain for binding (see Figure 1 ).