|
rs121913517
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
Familial gastrointestinal stromal tumours with germline mutation of the KIT gene.
|
9697690 |
1998 |
|
rs121913517
|
|
|
0.850 |
GeneticVariation |
BEFREE |
The present case is the first proven case of multiple GIST with a c-kit germline mutation in Korea and is distinguishable from other reported germ-line c-kit mutations because the same 1676 T --> C missense mutation occurs in the normal allele as well as the affected allele, although the significance of the identical mutations remains to be investigated.
|
16185297 |
2005 |
|
rs121913517
|
|
G |
0.850 |
GeneticVariation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
rs121913517
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors.
|
9438854 |
1998 |
|
rs121913517
|
|
A |
0.850 |
GeneticVariation |
CLINVAR |
Secondary c-Kit mutations confer acquired resistance to RTK inhibitors in c-Kit mutant melanoma cells.
|
23582185 |
2013 |
|
rs121913517
|
|
G |
0.850 |
GeneticVariation |
CLINVAR |
An update on molecular genetics of gastrointestinal stromal tumours.
|
16731599 |
2006 |
|
rs121913517
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
|
25394175 |
2015 |
|
rs121913517
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa.
|
11505412 |
2001 |
|
rs121913517
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following four rounds of circulation.
|
22685257 |
2012 |
|
rs121913517
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Its superior selectivity would make it a good pharmacological tool for further dissection of KIT V559D mediated pathology in the GISTs.
|
29340041 |
2017 |
|
rs121913517
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
A mutation-created novel intra-exonic pre-mRNA splice site causes constitutive activation of KIT in human gastrointestinal stromal tumors.
|
15824741 |
2005 |
|
rs121913517
|
|
A |
0.850 |
GeneticVariation |
CLINVAR |
Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis.
|
21689725 |
2011 |
|
rs121913517
|
|
|
0.850 |
GeneticVariation |
BEFREE |
According to Western blot analysis, in imatinib-resistant GIST with both KIT V559D and BRAF V600E mutations, the inhibition of KIT V559D by imatinib caused a strong decrease of AKT phosphorylation, while ERK1/2 phosphorylation was not affected.
|
25182956 |
2015 |
|
rs121913517
|
|
|
0.850 |
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 |
|
rs121913517
|
|
C |
0.850 |
GeneticVariation |
CLINVAR |
An update on molecular genetics of gastrointestinal stromal tumours.
|
16731599 |
2006 |
|
rs121913517
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor markers 2014 guidelines update.
|
23852704 |
2014 |
|
rs121913517
|
|
A |
0.850 |
GeneticVariation |
CLINVAR |
Ligand-independent autophosphorylation was observed in the mutant KIT with Val559Ile as well as that with Val559Asp, as found in GISTs.
|
17259998 |
2007 |
|
rs121913517
|
|
A |
0.850 |
GeneticVariation |
CLINVAR |
An update on molecular genetics of gastrointestinal stromal tumours.
|
16731599 |
2006 |
|
rs121913517
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Ligand-independent autophosphorylation was observed in the mutant KIT with Val559Ile as well as that with Val559Asp, as found in GISTs.
|
17259998 |
2007 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
An identical V600E BRAF mutation was also identified in one of 28 imatinib resistant GIST lacking a defined mechanism of drug resistance.
|
18615679 |
2008 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We report prolonged antitumor activity in the first patient with V600E BRAF-mutated GIST who was treated with a BRAF inhibitor.
|
23470635 |
2013 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
GISTs with the BRAF V600E mutation are relatively benign tumors with a distinctive molecular mechanism.
|
28034324 |
2017 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We identified BRAF V600E</span> point mutation in 4 % of KIT/PDGFRA wild-type GIST patients.
|
31708372 |
2019 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We constructed tissue microarrays of formalin-fixed and paraffin-embedded specimens of 534 gastroesophageal tumors (119 squamous cell cancers and 72 adenocarcinomas of the esophagus, 63 cancers of the gastroesophageal junction/cardia, 199 gastric cancers of the corpus or antrum, 81 gastric gastrointestinal stromal tumors) and performed anti-BRAF-V600E immunostaining using the mutation-specific antibody VE1.
|
23343956 |
2013 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
BRAF V600E detection in the tumor does not induce a higher expression of the B-raf protein or the preferential activation of the p42/44 mitogen-activated protein kinase (MAPK) signaling pathway compared with GISTs without the BRAF mutation.
|
20023270 |
2010 |