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https://hdl.handle.net/11499/6102
Title: | Incidence of fibroblast growth factor receptor 3 gene (FGFR3) A248C, S249C, G372C, and T375C mutations in bladder cancer | Authors: | Dodurga, Yavuz Tataroglu, C. Kesen, Z. Satiroglu-Tufan, Naciye Lale |
Keywords: | Bladder carcinoma DNA sequencing Fibroblast growth factor receptor 3 Mutation PCR Transitional cell carcinoma fibroblast growth factor receptor 3 adult aged article bladder cancer bladder carcinogenesis bladder carcinoma cancer incidence codon controlled study DNA sequence exon female heterozygosity human major clinical study male missense mutation polymerase chain reaction restriction fragment length polymorphism thanatophoric dysplasia mutation transitional cell carcinoma Adult Aged Aged, 80 and over Carcinoma, Transitional Cell Codon Exons Female Genetic Association Studies Genotype Humans Incidence Male Middle Aged Neoplasm Staging Receptor, Fibroblast Growth Factor, Type 3 Thanatophoric Dysplasia Urinary Bladder Neoplasms |
Abstract: | Bladder cancer is the most frequent cancer of the urinary system. Fibroblast growth factor receptors (FGFR) belong to the tyrosine kinase family and have important roles in cell differentiation and proliferation and embryogenesis. FGFR3 is located on chromosome 4p16.3, and missense mutations of FGFR3 are associated with autosomal dominant human skeletal disorders and have some oncogenic effects. We examined the incidence of FGFR3 thanatophoric dysplasia mutations located in exon 7, A248C and S249C, and in exon 10, G372C and T375C, and their correlation with clinical-pathological parameters in bladder carcinoma patients. Fifty-six paraffin-embedded specimens of transitional cell carcinoma of the urinary bladder were included in this study. Analysis of FGFR3 thanatophoric dysplasia mutations located in exon 7, A248C and S249C, and in exon 10, G372C and T375C, was performed by PCR- restriction fragment length polymorphism (RFLP) analysis and DNA sequencing. FGFR3 thanatophoric dysplasia mutations located in exon 7, A248C and S249C, and in exon 10, G372C and T375C, were detected in 33 of the 56 patients (heterozygous mutant). Among the 56 transitional cell carcinomas, missense point mutations were detected in seven of them at codon A248C, 28 of them at codon S249C, and three of them at codon T375C, similar to data from previous reports. When the results of the FGFR3 thanatophoric dysplasia mutations located in exon 7, A248C and S249C and in exon 10, G372C and T375C, were analyzed one by one or as a group, despite the findings of previous research reports, our data suggest that these mutations are detected homogenously regardless of the tumor classification and tumor grade. © FUNPEC-RP. | URI: | https://hdl.handle.net/11499/6102 https://doi.org/10.4238/vol10-1gmr923 |
ISSN: | 1676-5680 |
Appears in Collections: | PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection Tıp Fakültesi Koleksiyonu WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection |
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