TGFBR2 Kinase Domain Mutants in Cancer

Stable Identifier
Homo sapiens
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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
PubMed ID Title Journal Year
10789724 A dominant negative mutation of transforming growth factor-beta receptor type II gene in microsatellite stable oesophageal carcinoma

Tanaka, S, Ohno, S, Sugimachi, K, Mori, M, Mafune, K

Br. J. Cancer 2000
7585632 Microsatellite instability and mutations of the transforming growth factor beta type II receptor gene in colorectal cancer

Willson, JK, Vogelstein, B, Myeroff, L, Kinzler, KW, Markowitz, SD, Parsons, R, Liu, B

Cancer Res. 1995
9927040 Mutational inactivation of transforming growth factor beta receptor type II in microsatellite stable colon cancers

Kinzler, KW, Willson, JK, Grady, WM, Chang, J, Vogelstein, B, Swinler, SE, Kim, SJ, Myeroff, L, Neumann, A, Brattain, MG, Lutterbaugh, JD, Rajput, A, Markowitz, S, Thiagalingam, S

Cancer Res. 1999
9121777 Mutation analysis of coding sequences of the entire transforming growth factor beta type II receptor gene in sporadic human colon cancer using genomic DNA and intron primers

Harris, CC, Takenoshita, S, Bennett, WP, Hagiwara, K, Yokota, J, Tani, M, Nagashima, M

Oncogene 1997
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
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