Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker disease BEFREE These findings were recapitulated in mutant APC models of murine tumorigenesis, where epithelial truncation of TGFBR2 led to lethal inflammatory disease and invasive colon cancer, mediated by IL8 and TGFβ1. 27270652 2017
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker disease BEFREE Importantly, these Tgfbr2(ΔIEC) mice developed invasive colon cancer associated with chronic inflammation. 25687406 2015
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE Mononucleotide tracts in the coding regions of the TGFBR2 and BAX genes are commonly mutated in microsatellite instability-high (MSI-high) colon cancers. 21949851 2011
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker disease BEFREE These findings define a unique genotype-phenotype relationship between TGFBR2 and EMT that may contribute to the improved prognosis consistently observed in colon cancers with MSI. 20026115 2010
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker disease BEFREE In view of the emerging significance of cell surface glycans as biochemical signals for presentation/activity of various receptors/integrins and for susceptibility to adhesion/growth-regulatory tissue lectins, we examined the glycophenotype in the MSI-H colon cancer cell line HCT116 for activin type 2 receptor (ACVR2), absent in melanoma 2 (AIM2), and transforming growth factor beta-type 2 receptor (TGFBR2) known to be associated with MSI colorectal carcinogenesis. 19293232 2009
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE Microsatellite unstable (MSI-H) colon cancer serves as a unique model to demonstrate this as most MSI-H colon cancers have a mutation in the transforming growth factor beta receptor II (TGFbetaRII) gene and a low metastatic rate. 18985362 2009
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE Through the use of defined cell line systems, we show that both genomic instability and clonal selection of TGFB resistant cells contribute to the high frequency of TGFBR2 mutations in MSI colon cancer. 17985359 2008
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 AlteredExpression disease BEFREE These results suggest that TGFBR2 mutations in primary colon cancers may be responsible for the increased proliferation and cdk4 expression in these tumors and provide evidence that deregulation of cdk4 is a pathogenic in vivo consequence of TGFBR2 inactivation in primary colon cancer. 16108056 2006
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE All 54 MSI-H colon cancers and 20 random microsatellite stable (MSS) tumors from a population-based cohort of 503 patients were analyzed for mutations in 2 A(8) tracts (exon 3 and 10) of ACVR2 and the A(10) tract of transforming growth factor beta receptor 2 (TGFBR2). 14988818 2004
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE We conclude that instability-induced mutations in BAX or TGFBRII do not have a significant impact on the good prognosis of colon cancers with microsatellite instability. 12378532 2002
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE Most of this risk reduction occurred in individuals with American Joint Committee on Cancer stage III tumors, although transforming growth factor-beta receptor type II mutations were associated with a significant reduction in colon cancer death in tumors with distant metastases. 11535541 2001
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE Recent investigations revealed microsatellite instability in colon cancers are associated with mutations of the transforming growth factor-beta receptor type II gene (TGF-beta RII) that encodes a transmembrane protein containing an intracellular serine/threonine kinase domain. 10789724 2000
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 PosttranslationalModification disease BEFREE Mutational inactivation of transforming growth factor beta receptor type II in microsatellite stable colon cancers. 9927040 1999
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker disease BEFREE The transforming growth factor-beta (TGF-beta) type II receptor (RII) is a colon cancer suppressor gene that is inactivated by mutation in 90% of human colon cancers arising via the microsatellite instability (MSI) pathway of carcinogenesis. 9679977 1998
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker disease BEFREE The presence of inactivating mutations in the transforming growth factor-beta (TGF-beta) type II receptor (RII) gene in the colon cancer suggests that it may behave like a tumour suppressor gene. 9664904 1998
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE Most colon cancers exhibiting microsatellite instability (MI), a mutator phenotype of mismatch repair failure, are associated with mutations of the transforming growth factor-beta receptor type II genes (TGF-beta RII). 8840981 1996
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 AlteredExpression disease BEFREE To determine whether restoration of RII would lead to reversal of malignancy in RER colon cancers, an RII expression vector was transfected into the HCT 116 cell line. 7665626 1995
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker disease CTD_human Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability. 7761852 1995
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker disease HPO