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

Joint Authors

Yazici, Hulya
Odemis, Demet Akdeniz
Erdogan, Ozge Sukruoglu
Tuncer, Seref Bugra
Avsar, Mukaddes
Kilic, Seda
Turkcan, Gozde Kuru
Adamnejad Ghafour, Arash
Jabbarli, Khariga
Gider, Yasemin
Celik, Betul
Kebudi, Rejin
Buyukkapu Bay, Sema
Tuncer, Samuray

Source

Journal of Oncology

Issue

Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-8, 8 p.

Publisher

Hindawi Publishing Corporation

Publication Date

2020-12-30

Country of Publication

Egypt

No. of Pages

8

Main Topic

Diseases
Medicine

Abstract EN

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.

American Psychological Association (APA)

Odemis, Demet Akdeniz& Tuncer, Seref Bugra& Adamnejad Ghafour, Arash& Jabbarli, Khariga& Gider, Yasemin& Celik, Betul…[et al.]. 2020. FGFR4 c.1162G > A (p.Gly388Arg) Polymorphism Analysis in Turkish Patients with Retinoblastoma. Journal of Oncology،Vol. 2020, no. 2020, pp.1-8.
https://search.emarefa.net/detail/BIM-1189187

Modern Language Association (MLA)

Odemis, Demet Akdeniz…[et al.]. FGFR4 c.1162G > A (p.Gly388Arg) Polymorphism Analysis in Turkish Patients with Retinoblastoma. Journal of Oncology No. 2020 (2020), pp.1-8.
https://search.emarefa.net/detail/BIM-1189187

American Medical Association (AMA)

Odemis, Demet Akdeniz& Tuncer, Seref Bugra& Adamnejad Ghafour, Arash& Jabbarli, Khariga& Gider, Yasemin& Celik, Betul…[et al.]. FGFR4 c.1162G > A (p.Gly388Arg) Polymorphism Analysis in Turkish Patients with Retinoblastoma. Journal of Oncology. 2020. Vol. 2020, no. 2020, pp.1-8.
https://search.emarefa.net/detail/BIM-1189187

Data Type

Journal Articles

Language

English

Notes

Includes bibliographical references

Record ID

BIM-1189187