Malignant neoplasm of urinary bladder
|
|
0.820 |
GeneticVariation
|
BEFREE |
PATIENT SUMMARY: We propose that APOBEC-mediated mutagenesis can generate clinically relevant driver mutations even within suboptimal motifs, such as in the case of FGFR3 S249C, one of the most common mutations in bladder cancer.
|
30975452 |
2019 |
Malignant neoplasm of urinary bladder
|
|
0.820 |
GeneticVariation
|
BEFREE |
Knockdown by shRNA identifies S249C mutant FGFR3 as a potential therapeutic target in bladder cancer.
|
17384684 |
2007 |
Malignant neoplasm of urinary bladder
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma.
|
11314002 |
2001 |
Malignant neoplasm of urinary bladder
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas.
|
10471491 |
1999 |
Malignant neoplasm of urinary bladder
|
|
0.820 |
CausalMutation
|
CLINVAR |
|
|
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
|
0.810 |
GeneticVariation
|
BEFREE |
One patient had a pathogenic missense mutation of g.8535C>G (c.746C>G) in exon 7 of the FGFR3 gene consistent with Thanatophoric Dysplasia type I. Cytogenomic techniques were reliable for the analysis of autopsy material and allowed the identification of inter- and intra-tissue mosaicism and a better understanding of the pathogenesis of congenital malformations.
|
27450648 |
2016 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.
|
10360402 |
1999 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online.
|
10671061 |
1998 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia.
|
9790257 |
1998 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).
|
8845844 |
1996 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.
|
8589699 |
1995 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.
|
7773297 |
1995 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
|
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
Seborrheic keratosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans.
|
15772091 |
2005 |
Seborrheic keratosis
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
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 |
Carcinoma
|
|
0.740 |
GeneticVariation
|
BEFREE |
This study confirms the low frequency of the FGFR3 S249C mutation in CC.
|
11605053 |
2001 |
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 |
Carcinoma
|
|
0.740 |
GeneticVariation
|
BEFREE |
The S249C mutation is the only FGFR3 mutation described to date in cervical carcinomas.
|
11114733 |
2000 |
Carcinoma
|
|
0.740 |
GeneticVariation
|
CLINVAR |
Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas.
|
10471491 |
1999 |
Carcinoma of bladder
|
|
0.720 |
GeneticVariation
|
BEFREE |
PATIENT SUMMARY: We propose that APOBEC-mediated mutagenesis can generate clinically relevant driver mutations even within suboptimal motifs, such as in the case of FGFR3 S249C, one of the most common mutations in bladder cancer.
|
30975452 |
2019 |
Carcinoma of bladder
|
|
0.720 |
GeneticVariation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
Carcinoma of bladder
|
|
0.720 |
GeneticVariation
|
CLINVAR |
Antibody-based targeting of FGFR3 in bladder carcinoma and t(4;14)-positive multiple myeloma in mice.
|
19381019 |
2009 |
Carcinoma of bladder
|
|
0.720 |
GeneticVariation
|
BEFREE |
Knockdown by shRNA identifies S249C mutant FGFR3 as a potential therapeutic target in bladder cancer.
|
17384684 |
2007 |
Squamous cell carcinoma of the head and neck
|
|
0.710 |
GeneticVariation
|
BEFREE |
PIK3CA showed a uniquely high rate of mutations within the helicase domain, and FGFR3 contained a predominance of hotspot S249C alterations that were not found in HPV- HNSCC.
|
30933315 |
2019 |