Malignant tumor of colon
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
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 |
Malignant tumor of colon
|
0.500 |
Biomarker
|
disease |
BEFREE |
Importantly, these Tgfbr2(ΔIEC) mice developed invasive colon cancer associated with chronic inflammation.
|
25687406 |
2015 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |