Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease UNIPROT
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE The TGF beta type II receptor (RII) was found to be mutated within a polyadenine tract in 100 of 111 (90%) colorectal cancers with microsatellite instability. 7585632 1995
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 AlteredExpression disease BEFREE Escape from negative growth regulation by transforming growth factor beta (TGF-beta) as a result of the loss of TGF-beta type II receptor (RII) expression has been found to be associated with the replication error (RER) colorectal cancer genotype, which is characteristic of hereditary nonpolyposis colorectal cancers. 7665626 1995
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE Thus, E2F-4 may be a clue of the target gene of defective repair genes in CRC with genetic instability in addition to the TGF-beta type II receptor gene. 8878551 1996
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE RER was found in 17 cases (4 with gastric, 12 with colorectal, and 1 with gallbladder cancer), and 10 of those (3 with gastric and 7 with colorectal cancer) showed mutations of the RII gene. 8971166 1996
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 Biomarker disease BEFREE We developed a method to analyze a polyadenine tract, the (A)10 repeat, within the cysteine-rich domain of the transforming growth factor-beta (TGF-beta) type II receptor gene using a non-gel-sieving capillary electrophoresis technique and applied it to the DNA diagnosis of colorectal cancers. 9166228 1997
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE Analyses of the APC and TGF-beta type II receptor genes, and microsatellite instability in mucosal colorectal carcinomas. 9330602 1997
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE We investigated the role of TGFBR2 mutations in 12 colorectal cancer cell lines. 10077641 1999
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE However, RII gene mutations were observed in only two of seven (28.6%) MSI-positive colorectal cancers. 10565295 1999
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE We exploited a fortuitous experiment of nature to directly test this hypothesis: the TGF-beta type II receptor gene is inactivated by mutation in nearly all colorectal carcinomas having microsatellite instability, as seen in hereditary nonpolyposis colorectal cancer (HNPCC) and in sporadic medullary colorectal cancers. 11159190 2001
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE The most common mutations that have been identified in TGFBR2 are frameshifts in a repetitive polyadenine region in replication error-positive colorectal carcinomas that result in a truncated protein and absence of receptor expression at the cell surface. 11212236 2001
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE We analyzed MSI and TGFBR2 and BAX frameshift mutations to further clarify the relationships between inactivation of the two genes and genomic instability in sporadic colorectal cancer (CRC), and to address how mutations in these genes influence the development of tumors and, eventually, patient outcome. 15676142 2005
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE Specifically, TGFBR2 and ACVR2 mutations are significantly rarer in MSI-H IBDNs than in MSI-H sporadic CRCs. 16012936 2005
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE The transforming growth factor-beta receptor type 2 gene (TGFBR2) is mutated in most microsatellite instability-high (MSI-H) colorectal cancers. 17270239 2007
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE The carcinogenesis process in ulcerative colitis-associated colorectal cancer was closely associated with the microsatellite instability pathway through TGFbetaRII mutation by a dysfunction of the mismatch repair system. 18546042 2008
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE We sought to determine whether the epithelial to mesenchymal transition (EMT) is impaired in MSI-positive CRCs that characteristically have a mutant transforming growth factor-beta receptor type II (TGFBR2) gene. 20026115 2010
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE 5-ASA increases replication fidelity in mononucleotide, dinucleotide, and tetranucleotide repeats and reduces mutations in tumor suppressor genes TGFBR2 and ACVR2, a finding that may provoke in vivo studies for the prevention of colorectal cancer in hereditary nonpolyposis colorectal cancer. 20197483 2010
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE Mutations in TGFbeta-RII and BAX mediate tumor progression in the later stages of colorectal cancer with microsatellite instability. 20565851 2010
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 Biomarker disease BEFREE Mismatch repair, minichromosome maintenance complex component 2, cyclin A, and transforming growth factor β receptor type II as prognostic factors for colorectal cancer: results of a 10-year prospective study using tissue microarray analysis. 21362268 2011
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 Biomarker disease BEFREE However, a role of TGFBR2 or BAX mononucleotide mutation in colorectal cancer as a prognostic biomarker remains uncertain. 21949851 2011
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 AlteredExpression disease BEFREE MiR-106a inhibits the expression of transforming growth factor-β receptor 2 (TGFBR2), leading to increased CRC cell migration and invasion. 22912877 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE Colorectal cancers (CRCs) frequently harbor somatic mutations in the pathway members TGFBR2 and SMAD4, but to what extent mutations in SMAD2 or SMAD3 contribute to tumorigenesis is unclear. 23139211 2013
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE About 15% of CRC show the microsatellite instability (MSI) phenotype that is associated with a high frequency of biallelic frameshift mutations in the A10 coding mononucleotide microsatellite of the transforming growth factor beta receptor 2 (TGFBR2) gene. 23468914 2013
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 Biomarker disease BEFREE Consequently, we determined in vivo if deregulation of these two pathways cooperates to affect CRC formation by analyzing tumors arising in mice that lack Tgfbr2 and/or Pten specifically in the intestinal epithelium. 23604118 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 Biomarker disease BEFREE MicroRNA-200b stimulates tumour growth in TGFBR2-null colorectal cancers by negatively regulating p27/kip1. 24151081 2014