rs121913483
|
|
Carcinoma
|
|
0.740 |
GeneticVariation
|
BEFREE |
Using single strand conformation polymorphism (SSCP) followed by DNA sequencing, we found FGFR3 mutation (S249C in all cases) in 5% of invasive cervical carcinomas and no mutation in intraepithelial lesions.
|
15869706 |
2005 |
rs121913483
|
|
Carcinoma
|
|
0.740 |
GeneticVariation
|
BEFREE |
This study confirms the low frequency of the FGFR3 S249C mutation in CC.
|
11605053 |
2001 |
rs121913483
|
|
Carcinoma
|
|
0.740 |
GeneticVariation
|
BEFREE |
Fibroblast growth factor receptor 3 (FGFR3) - analyses of the S249C mutation and protein expression in primary cervical carcinomas.
|
11904459 |
2001 |
rs121913483
|
|
Carcinoma
|
|
0.740 |
GeneticVariation
|
BEFREE |
The S249C mutation is the only FGFR3 mutation described to date in cervical carcinomas.
|
11114733 |
2000 |
rs121913483
|
|
Carcinoma
|
G |
0.740 |
GeneticVariation
|
CLINVAR |
Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas.
|
10471491 |
1999 |
rs78311289
|
|
Carcinoma
|
G |
0.710 |
GeneticVariation
|
CLINVAR |
Deregulated FGFR3 mutants in multiple myeloma cell lines with t(4;14): comparative analysis of Y373C, K650E and the novel G384D mutations.
|
11429702 |
2001 |
rs78311289
|
|
Carcinoma
|
|
0.710 |
GeneticVariation
|
BEFREE |
Mutation of Lys650-->Glu in the activation loop of the FGFR3 kinase domain causes the lethal human skeletal disorder thanatophoric dysplasia type II (TDII) and is also found in patients with multiple myeloma, bladder and cervical carcinomas.
|
10918587 |
2000 |
rs78311289
|
|
Carcinoma
|
G |
0.710 |
GeneticVariation
|
CLINVAR |
Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas.
|
10471491 |
1999 |
rs1057519824
|
|
Carcinoma
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Novel somatic mutations of the MET oncogene in human carcinoma metastases activating cell motility and invasion.
|
12460923 |
2002 |
rs1057520030
|
|
Carcinoma
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Novel somatic mutations of the MET oncogene in human carcinoma metastases activating cell motility and invasion.
|
12460923 |
2002 |
rs121913245
|
|
Carcinoma
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Uncoupling signal transducers from oncogenic MET mutants abrogates cell transformation and inhibits invasive growth.
|
9826708 |
1998 |
rs121913246
|
|
Carcinoma
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Uncoupling signal transducers from oncogenic MET mutants abrogates cell transformation and inhibits invasive growth.
|
9826708 |
1998 |
rs121913480
|
|
Carcinoma
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Constitutive activating mutation of the FGFR3b in oral squamous cell carcinomas.
|
15880580 |
2005 |
rs121913482
|
|
Carcinoma
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas.
|
10471491 |
1999 |
rs121913484
|
|
Carcinoma
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Differential activation of cysteine-substitution mutants of fibroblast growth factor receptor 3 is determined by cysteine localization.
|
12009017 |
2002 |
rs121913485
|
|
Carcinoma
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Deregulated FGFR3 mutants in multiple myeloma cell lines with t(4;14): comparative analysis of Y373C, K650E and the novel G384D mutations.
|
11429702 |
2001 |
rs121913671
|
|
Carcinoma
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Uncoupling signal transducers from oncogenic MET mutants abrogates cell transformation and inhibits invasive growth.
|
9826708 |
1998 |
rs121913671
|
|
Carcinoma
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Uncoupling signal transducers from oncogenic MET mutants abrogates cell transformation and inhibits invasive growth.
|
9826708 |
1998 |
rs28931615
|
|
Carcinoma
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
The strong dimerization of the transmembrane domain of the fibroblast growth factor receptor (FGFR) is modulated by C-terminal juxtamembrane residues.
|
19165726 |
2009 |
rs56391007
|
|
Carcinoma
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
The radiology of osseous and articular infection.
|
1104268 |
1975 |
rs587779383
|
|
Carcinoma
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Effect of transmembrane and kinase domain mutations on fibroblast growth factor receptor 3 chimera signaling in PC12 cells. A model for the control of receptor tyrosine kinase activation.
|
9857065 |
1998 |
rs786202724
|
|
Carcinoma
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Novel mutation in the ATP-binding site of the MET oncogene tyrosine kinase in a HPRCC family.
|
10417759 |
1999 |
rs113488022
|
|
Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
LLS carcinomas were diagnosed at a mean age of 65 years (vs. 44 years in LS, p < 0.001), had a proximal to distal ratio of 1:1, and all were BRAF V600E-negative.
|
30575961 |
2019 |
rs113488022
|
|
Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
BRAF inhibitors showed activity in BRAF V600E mutated cholangiocarcinomas and pancreatic carcinomas in non-first line settings.
|
31221175 |
2019 |
rs113488022
|
|
Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
To determine the association of DNA mismatch repair (MMR) status and somatic mutation in the B-Raf proto-oncogene (c.1799T>A [V600E]; BRAFV600E) or exon 2 of the KRAS proto-oncogene (KRAS) in the primary tumor with SAR in patients with stage III colon carcinomas treated with adjuvant chemotherapy.
|
28006055 |
2017 |