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Query author contributions in Reactome

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Details on Person Missense mutations in the kinase domain (KD) of TGF-beta rec...

Class:IdSummation:3654163
_displayNameMissense mutations in the kinase domain (KD) of TGF-beta rec...
_timestamp2013-05-30 20:39:27
created[InstanceEdit:3654167] Orlic-Milacic, M, 2013-05-30
textMissense 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).
(summation)[Pathway:3645790] TGFBR2 Kinase Domain Mutants in Cancer [Homo sapiens]
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