FGFR4 c.1162G > A (p.Gly388Arg) Polymorphism Analysis in Turkish Patients with Retinoblastoma
Author
Yazici, Hulya
TUNÇER, Şeref Buğra
Tuncer, Samuray
Kebudi, Rejin
AKDENİZ ÖDEMİŞ, Demet
Adamnejad Ghafour, Arash
Jabbarli, Khariga
Gider, Yasemin
ÇELİK, Betül
Kuru Turkcan, Gozde
ŞÜKRÜOĞLU ERDOĞAN, Özge
KILIÇ ERCİYAS, Seda
Avsar, Mukaddes
Buyukkapu Bay, Sema
Metadata
Show full item recordAbstract
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.
URI
http://hdl.handle.net/20.500.12627/171196https://avesis.istanbul.edu.tr/api/publication/6761706d-bba9-4cb4-946d-2ec716a352ee/file
https://doi.org/10.1155/2020/9401038
Collections
- Makale [2276]