NEVUS, EPIDERMAL (disorder)
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
The association of epidermal nevi and transitional cell bladder carcinoma may be linked to a mutation in the fibroblast growth factor receptor 3 gene, FGFR<sub>3</sub>, but a clear link has yet to be substantiated and additional molecular studies are needed.
|
28207006 |
2017 |
NEVUS, EPIDERMAL (disorder)
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
Our results show that activating FGFR3 mutations can also affect the oral mucosa and that extracutaneous manifestations of EN syndrome can be subtle.
|
21639936 |
2011 |
NEVUS, EPIDERMAL (disorder)
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
Somatic oncogenic activating mutations in FGFR3 and/or PIK3CA have recently been described in benign epithelial cutaneous lesions that never progress to malignancy (seborrheic keratoses and epidermal nevi).
|
18728396 |
2008 |
NEVUS, EPIDERMAL (disorder)
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis of a biopsy specimen obtained from the epidermal nevus revealed a heterozygous R248C hotspot mutation in FGFR3, whereas in normal skin the FGFR3 wild-type allele was exclusively found.
|
18642369 |
2008 |
NEVUS, EPIDERMAL (disorder)
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
Therefore, we examined exons 9 and 20 of PIK3CA and FGFR3 hotspot mutations in EN (n = 33) and SK (n = 62), two proliferative skin lesions lacking malignant potential.
|
17673550 |
2007 |
NEVUS, EPIDERMAL (disorder)
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
Our findings indicate that: (1) FGFR3 mutations occur in mosaicism and can cause EN and (2) other genes are involved in EN.
|
17255960 |
2007 |
NEVUS, EPIDERMAL (disorder)
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
FGFR3 mutations in epidermal nevi and seborrheic keratoses: lessons from urothelium and skin.
|
17568799 |
2007 |
NEVUS, EPIDERMAL (disorder)
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
The R248C mutation appears to be a hot spot for FGFR3 mutations in epidermal nevi.
|
16841094 |
2006 |
NEVUS, EPIDERMAL (disorder)
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
Recently, the same FGFR3 mutations known from skeletal dysplasia syndromes and urothelial carcinoma have been shown to cause benign human skin tumors such as seborrheic keratoses and epidermal nevi.
|
17172848 |
2006 |
NEVUS, EPIDERMAL (disorder)
|
0.690 |
GeneticVariation
|
disease |
UNIPROT |
The R248C mutation appears to be a hot spot for FGFR3 mutations in epidermal nevi.
|
16841094 |
2006 |
NEVUS, EPIDERMAL (disorder)
|
0.690 |
Biomarker
|
disease |
CTD_human |
|
|
|
NEVUS, EPIDERMAL (disorder)
|
0.690 |
CausalMutation
|
disease |
CLINVAR |
|
|
|