Dataset Information

FGFR4 c.1162G?>?A (p.Gly388Arg) Polymorphism Analysis in Turkish Patients with Retinoblastoma.

ABSTRACT:

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.

SUBMITTER: Akdeniz Odemis D

PROVIDER: S-EPMC7787726 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Publications

<i>FGFR4</i> c.1162G > A (p.Gly388Arg) Polymorphism Analysis in Turkish Patients with Retinoblastoma.

Akdeniz Odemis Demet D Tuncer Seref Bugra SB Adamnejad Ghafour Arash A Jabbarli Khariga K Gider Yasemin Y Celik Betul B Kuru Turkcan Gozde G Sukruoglu Erdogan Ozge O Kilic Erciyas Seda S Avsar Mukaddes M Kebudi Rejin R Buyukkapu Bay Sema S Tuncer Samuray S Yazici Hulya H

Journal of oncology 20201230

<h4>Purpose</h4>Various molecular variations are known to result in different gene variants in the <i>FGFR4</i> gene, known for its oncogenic transformation activity. The goal of this study was to investigate the <i>FGFR4</i> 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 <i>RB1</i> gene mutation.<h4>Methods</h4>Using the Sanger sequencing methods, the <i>FG ...[more]

PMID: 33456465

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