Reactome: A Curated Pathway Database

TGFBR2 Kinase Domain Mutants in Cancer

Stable Identifier
R-HSA-3645790
Type
Pathway
Species
Homo sapiens
Locations in the PathwayBrowser
Summation

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).

Literature References
Participants
Participant Of
Disease
Diseases
Name Identifier Synonyms
cancer 162 [malignant tumor, malignant neoplasm, primary cancer]
Cross References