TGFBR2 MSI Frameshift Mutants in Cancer

Stable Identifier
R-HSA-3642279
Type
Pathway
Species
Homo sapiens
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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.

Literature References
PubMed ID Title Journal Year
7761852 Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability

Fan, RS, Sun, L, Vogelstein, B, Myeroff, L, Wang, J, Kinzler, KW, Parsons, R, Markowitz, S, Zborowska, E, Lutterbaugh, J

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

Sun, L, Willson, JK, Myeroff, L, Gentry, LE, Wang, J, Yang, J, Wang, X, Liang, J, Markowitz, S, Zborowska, E

J. Biol. Chem. 1995
Participants
Participates
Disease
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
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