|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Colorectal Carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We investigated the role of TGFBR2 mutations in 12 colorectal cancer cell lines.
|
10077641 |
1999 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Colorectal Carcinoma
|
0.400 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|