Gastrointestinal Stromal Tumors
|
1.000 |
Biomarker
|
group |
HPO |
|
|
|
Gastrointestinal Stromal Tumors
|
1.000 |
CausalMutation
|
group |
CGI |
|
|
|
Gastrointestinal Stromal Tumors
|
1.000 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
Gastrointestinal Stromal Tumors
|
1.000 |
GeneticVariation
|
group |
CLINVAR |
Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism.
|
7529964 |
1995 |
Gastrointestinal Stromal Tumors
|
1.000 |
GeneticVariation
|
group |
UNIPROT |
Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors.
|
9438854 |
1998 |
Gastrointestinal Stromal Tumors
|
1.000 |
GeneticVariation
|
group |
UNIPROT |
Familial gastrointestinal stromal tumours with germline mutation of the KIT gene.
|
9697690 |
1998 |
Gastrointestinal Stromal Tumors
|
1.000 |
Biomarker
|
group |
CLINGEN |
Familial gastrointestinal stromal tumours with germline mutation of the KIT gene.
|
9697690 |
1998 |
Gastrointestinal Stromal Tumors
|
1.000 |
CausalMutation
|
group |
CLINVAR |
A novel gain-of-function mutation of c-kit gene in gastrointestinal stromal tumors.
|
9797363 |
1998 |
Gastrointestinal Stromal Tumors
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Recently, we found gain-of-function mutations of the c-kit gene in gastrointestinal stromal tumors (GISTs).
|
9797363 |
1998 |
Gastrointestinal Stromal Tumors
|
1.000 |
GeneticVariation
|
group |
BEFREE |
In conclusion, KIT mutation is associated with poor prognosis in patients with gastrointestinal stromal tumors.
|
9881963 |
1998 |
Gastrointestinal Stromal Tumors
|
1.000 |
AlteredExpression
|
group |
BEFREE |
Co-expression of KIT or CD34, which is also expressed in GIST and ICCs, was demonstrated in 18 (100%) and 16 SMemb-positive tumors (89%), respectively.
|
9916914 |
1999 |
Gastrointestinal Stromal Tumors
|
1.000 |
AlteredExpression
|
group |
BEFREE |
Most GISTs express CD34 and CD117 (c-kit protein) but not desmin.
|
9916918 |
1999 |
Gastrointestinal Stromal Tumors
|
1.000 |
AlteredExpression
|
group |
BEFREE |
The proto-oncogene c-KIT encodes a growth factor receptor, KIT, with ligand-dependent tyrosine kinase activity that is expressed by several cell types including mast cells. c-KIT juxtamembrane coding region mutations causing constitutive activation of KIT are capable of transforming cell lines and have been identified in a human mast cell line and in situ in human gastrointestinal stromal tumors, but have not been demonstrated in situ in neoplastic mast cells from any species.
|
9989791 |
1999 |
Gastrointestinal Stromal Tumors
|
1.000 |
GeneticVariation
|
group |
BEFREE |
To better define the frequency and spectrum of c-kit gene mutations in mesenchymal neoplasms of the GI tract that had been characterized for KIT protein expression, we examined archived tissue samples for mutations in the JM domain by PCR amplification and DNA sequencing. c-kit JM domain mutations were found in nine of 56 mesenchymal tumors (46 GISTs, eight leiomyomas, two leiomyosarcomas) and occurred exclusively in GISTs (21%).
|
10086344 |
1999 |
Gastrointestinal Stromal Tumors
|
1.000 |
GeneticVariation
|
group |
CLINVAR |
Inhibition of spontaneous receptor phosphorylation by residues in a putative alpha-helix in the KIT intracellular juxtamembrane region.
|
10224103 |
1999 |
Gastrointestinal Stromal Tumors
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Most GISTs (89%) express the KIT protein, and missense mutations of exon 11 were found in 71 of 124 GISTs (57%).
|
10485475 |
1999 |
Gastrointestinal Stromal Tumors
|
1.000 |
GeneticVariation
|
group |
BEFREE |
C-kit gene mutations in GIST are not always related to a poor prognosis, but further comparative studies are necessary in Western and Japanese populations.
|
10665649 |
1999 |
Gastrointestinal Stromal Tumors
|
1.000 |
GeneticVariation
|
group |
CLINVAR |
Cause of familial and multiple gastrointestinal autonomic nerve tumors with hyperplasia of interstitial cells of Cajal is germline mutation of the c-kit gene.
|
10680913 |
2000 |
Gastrointestinal Stromal Tumors
|
1.000 |
AlteredExpression
|
group |
BEFREE |
These findings indicate that KIT may be activated by mutations in at least three domains-extracellular, juxtamembrane, and kinase-in GISTs.
|
10702394 |
2000 |
Gastrointestinal Stromal Tumors
|
1.000 |
Biomarker
|
group |
BEFREE |
Most gastrointestinal stromal tumors (GISTs), a subgroup of mesenchymal neoplasms of the gut wall, express both Kit (CD117) and CD34 proteins.
|
10751339 |
2000 |
Gastrointestinal Stromal Tumors
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Moreover, germline gain-of-function mutations of the c-kit gene are a cause of familial development of multiple GISTs.
|
10779223 |
2000 |
Gastrointestinal Stromal Tumors
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Activating mutations in the tyrosine kinase or juxtamembrane domains of c-kit gene have been found in mastocytoma, seminoma, and gastrointestinal stromal tumors.
|
10824925 |
2000 |
Gastrointestinal Stromal Tumors
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Molecular genetic analysis of the exon 11 of the c-kit gene revealed a point mutation in the region commonly mutated in GISTs.
|
10835530 |
2000 |
Gastrointestinal Stromal Tumors
|
1.000 |
GeneticVariation
|
group |
BEFREE |
KIT expression and mutations in the c-kit gene are found only in GISTs, but not in myogenic or neurogenic tumors.
|
11005253 |
2000 |
Gastrointestinal Stromal Tumors
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Activating mutations in the juxtamembrane domain (exon 11) of the c-kit gene have been shown in a subset of GISTs.
|
11021812 |
2000 |