FGFR4 c.1162G > A (p.Gly388Arg) Polymorphism Analysis in Turkish Patients with Retinoblastoma
| Autor: | Sema Buyukkapu Bay, Samuray Tuncer, Arash Adamnejad Ghafour, Betul Celik, Yasemin Gider, Hulya Yazici, Rejin Kebudi, Khariga Jabbarli, Mukaddes Avsar, Seref Bugra Tuncer, Gozde Kuru Turkcan, Seda Kilic Erciyas, Demet Akdeniz Odemis, Ozge Sukruoglu Erdogan |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Oncology medicine.medical_specialty Turkish population Article Subject Population Gene mutation 03 medical and health sciences symbols.namesake 0302 clinical medicine FGFR4 Gene Internal medicine medicine Allele education Allele frequency RC254-282 Sanger sequencing education.field_of_study Retinoblastoma business.industry Neoplasms. Tumors. Oncology. Including cancer and carcinogens medicine.disease eye diseases 030104 developmental biology 030220 oncology & carcinogenesis symbols business Research Article |
| Zdroj: | Journal of Oncology, Vol 2020 (2020) Journal of Oncology |
| ISSN: | 1687-8469 1687-8450 |
| Popis: | Purpose. Various molecular variations are known to result in different gene variants in the FGFR4 gene, known for its oncogenic transformation activity. The goal of this study was to investigate the FGFR4 p.Gly388Arg variant that plays role in the progression of cancer and retinal growth and may be an effective candidate variant in the Turkish population in retinoblastoma patients with no RB1 gene mutation. Methods. Using the Sanger sequencing methods, the FGFR4 p.Gly388Arg variant was bidirectionally sequenced in 49 patients with non-RB1 gene mutation in retinoblastoma patients and 13 healthy first-degree relatives and 146 individuals matched by sex and age in the control group. Results. In Turkish population-specific study, the FGFR4 p.Gly388Arg variant was found in 27 (55.1 percent) of 49 patients; mutation was found in 7 (53.8 percent) of these patients’ 13 healthy relatives screened. When FGFR4 p.Gly388Arg mutation status is evaluated in terms of 146 healthy controls, in 70 (47.9 percent) individuals, mutation was observed. Our analysis showed that the FGFR4 p.Gly388Arg allele frequency, which according to different databases is seen as 30 percent in the general population, is 50 percent common in the Turkish population. Conclusions. In patients with advanced retinoblastoma who were diagnosed with retinoblastoma prior to 24 months, the FGFR4 p.Gly388Arg allele was found to be significantly higher. As a result, these results indicate that the polymorphism of FGFR4 p.Gly388Arg may play a role in both the development of tumors and the progression of aggressive tumors. |
| Databáze: | OpenAIRE |
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