TGFBR2 Kinase Domain Mutants in Cancer
Species Homo sapiens
Missense mutations in the kinase domain (KD) of TGF-beta receptor II (TGFBR2) are found in ~20% of microsatellite stable (MSS) colon cancers and make affected tumors resistant to TGF-beta (TGFB1)-mediated growth inhibition (Grady et al. 1999). While both alleles of TGFBR2 are affected by inactivating mutations in MSS colorectal cancer (Grady et al. 1999), a study of MSS esophageal carcinoma indicates that TGFBR2 KD mutations may function in a dominant-negative way (Tanaka et al. 2000). KD mutations in TGFBR2 are rarely reported in microsatellite instable (MSI) colorectal cancer (Parsons et al. 1995, Takenoshita et al. 1997).
Locations in the PathwayBrowser
||[malignant tumor, malignant neoplasm, primary cancer]