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TGFBR2 MSI Frameshift Mutants in Cancer (R-HSA-3642279) [Homo sapiens]

Pathway
Summation

The short adenine repeat in the coding sequence of TGF-beta receptor II (TGFBR2) gene is frequently targeted by loss-of-function frameshift mutations in colon cancers with microsatellite instability (MSI). The 1- or 2-bp deletions in the adenine stretch of TGFBR2 cDNA introduce a premature stop codon that leads to degradation of the majority of mutant transcripts through nonsense-mediated decay or to production of a truncated TGFBR2 that cannot be presented on the cell surface. Cells that harbor TGFBR2 MSI frameshift mutations are resistant to TGF-beta (TGFB1)-mediated growth inhibition.

Locations in the PathwayBrowser
Cross References
Database Identifier
BioModels Database BIOMD0000000499, BIOMD0000000173, BIOMD0000000342
Diseases
Name Identifier Synonyms
cancer 162 [malignant tumor, malignant neoplasm, primary cancer]
Literature References
pubMedId Title Journal Year
7761852 Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability Science 1995
7665626 Demonstration that mutation of the type II transforming growth factor beta receptor inactivates its tumor suppressor activity in replication error-positive colon carcinoma cells J. Biol. Chem. 1995
 
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