Gastrointestinal Stromal Tumors
|
|
0.730 |
GeneticVariation
|
BEFREE |
This paper describes a 52-year old patient with a de novo germline p.Trp557Arg mutation with multiple GISTs throughout the gastrointestinal tract and cutaneous hyperpigmentation.
|
28710566 |
2018 |
Gastrointestinal Stromal Tumors
|
|
0.730 |
GeneticVariation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
Gastrointestinal Stromal Tumors
|
|
0.730 |
GeneticVariation
|
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
|
|
0.730 |
GeneticVariation
|
CLINVAR |
Structure and regulation of Kit protein-tyrosine kinase--the stem cell factor receptor.
|
16226710 |
2005 |
Gastrointestinal Stromal Tumors
|
|
0.730 |
GeneticVariation
|
CLINVAR |
Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia.
|
14977822 |
2004 |
Gastrointestinal Stromal Tumors
|
|
0.730 |
GeneticVariation
|
CLINVAR |
Inhibition of spontaneous receptor phosphorylation by residues in a putative alpha-helix in the KIT intracellular juxtamembrane region.
|
10224103 |
1999 |
Gastrointestinal Stromal Tumors
|
|
0.730 |
GeneticVariation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
Gastrointestinal Stromal Tumors
|
|
0.730 |
GeneticVariation
|
CLINVAR |
An update on molecular genetics of gastrointestinal stromal tumours.
|
16731599 |
2006 |
Gastrointestinal Stromal Tumors
|
|
0.730 |
GeneticVariation
|
BEFREE |
This finding was validated in four separate tumors, two gastric and two intestinal, from a patient with familial GIST with a germ-line KIT W557R substitution.
|
15161681 |
2004 |
Gastrointestinal Stromal Tumors
|
|
0.730 |
GeneticVariation
|
BEFREE |
Further comparison of localized GISTs in the MolecGIST cohort with advanced GISTs from previous clinical trials showed that the mutations of PDGFRA exon18 (D842V and others) as well as KIT exon11 substitutions (W557R and V559D) were more likely to be seen in patients with localized GISTs (odds ratio 7.9, 3.1, 2.7 and 2.5, respectively), while KIT exon 9 502_503dup and KIT exon 11 557_559del were more frequent in metastatic GISTs (odds ratio of 0.3 and 0.5, respectively).
|
21953054 |
2012 |
Gastrointestinal Stromal Tumors
|
|
0.730 |
GeneticVariation
|
CLINVAR |
An update on molecular genetics of gastrointestinal stromal tumours.
|
16731599 |
2006 |
melanoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
KIT as a therapeutic target in metastatic melanoma.
|
21642685 |
2011 |
melanoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
KIT gene mutations and copy number in melanoma subtypes.
|
18980976 |
2008 |
melanoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412.
|
15790786 |
2005 |
melanoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
Response to imatinib mesylate depends on the presence of the V559A-mutated KIT oncogene.
|
19812602 |
2010 |
melanoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
Dose-dependent, complete response to imatinib of a metastatic mucosal melanoma with a K642E KIT mutation.
|
18510589 |
2008 |
melanoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours.
|
11276010 |
2001 |
melanoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
L576P KIT mutation in anal melanomas correlates with KIT protein expression and is sensitive to specific kinase inhibition.
|
17372901 |
2007 |
melanoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, and clinical correlates.
|
19671763 |
2009 |
melanoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
KIT gene mutations and copy number in melanoma subtypes.
|
18980976 |
2008 |
melanoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
Constitutively activating mutations of c-kit receptor tyrosine kinase confer factor-independent growth and tumorigenicity of factor-dependent hematopoietic cell lines.
|
7530509 |
1995 |
melanoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, and clinical correlates.
|
19671763 |
2009 |
melanoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
L576P KIT mutation in anal melanomas correlates with KIT protein expression and is sensitive to specific kinase inhibition.
|
17372901 |
2007 |
melanoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
Sunitinib therapy for melanoma patients with KIT mutations.
|
22261812 |
2012 |
Thymoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
Association of KIT exon 9 mutations with nongastric primary site and aggressive behavior: KIT mutation analysis and clinical correlates of 120 gastrointestinal stromal tumors.
|
12960119 |
2003 |