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

Ödemiş, Demet Akdeniz; Tunçer, Şeref Buğra; Ghafour, Arash Adamnejad; Jabbarli, Khariga; Gider, Yasemin; Çelik, Betül; Türkcan, Gözde Kuru; Erdoğan, Özge; Erciyas, Seda Kılıç; Avsar, Mukaddes; Kebudi, Rejin; Bay, Sema Büyükkapu; Tuncer, Samuray; Yazıcı, Hülya

doi:10.1155/2020/9401038

Cited by 3 publications

(3 citation statements)

References 30 publications

(18 reference statements)

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“…Twenty-four studies analyzed the pathological or prognostic parameters according to the four genetic models. Seven studies had a small sample size with less than 100 subjects in total ( 36 , 42 , 45 , 51 , 59 , 60 , 64 ), and most studies used univariate statistical method to compare survival times, except for seven studies ( 37 , 39 , 40 , 44 , 56 , 58 , 61 ).…”

Section: Resultsmentioning

confidence: 99%

FGFR4 Gly388Arg Polymorphism Reveals a Poor Prognosis, Especially in Asian Cancer Patients: A Meta-Analysis

et al. 2021

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The fibroblast growth factor-4 receptor (FGFR4) is a member of receptor tyrosine kinase. The FGFR4 Gly388Arg polymorphism in the transmembrane domain of the receptor has been shown to increase genetic susceptibility to cancers. However, its prognostic impact in cancer patients still remains controversial. Herein, we performed this meta-analysis to evaluate the clinicopathological and prognostic impacts of the FGFR4 Gly388Arg polymorphism in patients with cancer. We carried out a computerized extensive search using PubMed, Medline, and Ovid Medline databases up to July 2021. From 44 studies, 11,574 patients were included in the current meta-analysis. Regardless of the genetic models, there was no significant correlation of the FGFR4 Gly388Arg polymorphism with disease stage 3/4. In the homozygous model (Arg/Arg vs. Gly/Gly), the Arg/Arg genotype tended to show higher rate of lymph node metastasis compared with the Gly/Gly genotype (odds ratio = 1.21, 95% confidence interval (CI): 0.99-1.49, p = 0.06). Compared to patients with the Arg/Gly or Arg/Arg genotype, those with the Gly/Gly genotype had significantly better overall survival (hazard ratios (HR) = 1.19, 95% CI: 1.05-1.35, p = 0.006) and disease-free survival (HR = 1.25, 95% CI: 1.03-1.53, p = 0.02). In conclusion, this meta-analysis showed that the FGFR4 Gly388Arg polymorphism was significantly associated with worse prognosis in cancer patients. Our results suggest that this polymorphism may be a valuable genetic marker to identify patients at higher risk of recurrence or mortality.

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Section: Resultsmentioning

confidence: 99%

FGFR4 Gly388Arg Polymorphism Reveals a Poor Prognosis, Especially in Asian Cancer Patients: A Meta-Analysis

et al. 2021

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“…These genes are FGFR4, NQO1, ACADS CX3CR1, GBE1, KRT85 , and TYR , which are suggested to possibly have an effect on the pathogenesis of the disease in these patients with no germline RB1 gene mutations, or that differences in RB1 gene methylation and expression status may be effective, as we are investigating in patients without RB1 gene mutation. [7–9] The presence of a RB1 gene mutation in all 3 patients with trilateral RB underlines the role of the RB1 gene in trilateral disease.…”

Section: Discussionmentioning

confidence: 99%

“…[6] Important genetic factors are known to play a role in the pathogenesis of retinoblastoma. [7][8][9] Mutations are known to initiate the disease in the retinoblastoma gene (RB1). RB1 gene (Gene ID: 5925, OMIM 614041) produces a nuclear protein weighing 110 kd called pRB.…”

Section: Introductionmentioning

confidence: 99%

RB1 gene mutations and genetic spectrum in retinoblastoma cases

Akdeniz Odemis,

Kebudi,

Bayramova

et al. 2023

Medicine

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The aim of the study was to investigate the frequency and types of mutations on the retinoblastoma gene (RB1 gene) in Turkish population. RB1 gene mutation analysis was performed in a total of 219 individuals (122 probands with retinoblastoma, 14 family members with retinoblastoma and 83 clinically healthy family members). All 27 exons and close intronic regions of the RB1 gene were sequenced for small deletions and insertions using both the Sanger sequencing or NGS methods, and the large deletions and duplications were investigated using the MLPA analysis and CNV algorithm. The bilateral/trilateral retinoblastoma rate was 66% in the study population. The general frequency of RB1 gene mutation in the germline of the patients with retinoblastoma was 41.9%. Approximately 51.5% of the patients were diagnosed earlier than 12 months old, and de novo mutation was found in 32.4% of the patients. Germline small genetic rearrangement mutations were detected in 78.9% of patients and LGRs were detected in 21.1% of patients. An association was detected between the eye color of the RB patients and RB1 mutations. 8 of the mutations detected in the RB1 gene were novel in the study.

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Role of serum endotoxin, FGF19, TLR2, TNF-α, IL-12 and IL-10 in NAFLD-associated T2DM pathogenesis: Insights into Th1 bias and protective mechanisms

Das,

Pathak,

Dutta

et al. 2024

Indian J Gastroenterol

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

Cited by 3 publications

References 30 publications

FGFR4 Gly388Arg Polymorphism Reveals a Poor Prognosis, Especially in Asian Cancer Patients: A Meta-Analysis

FGFR4 Gly388Arg Polymorphism Reveals a Poor Prognosis, Especially in Asian Cancer Patients: A Meta-Analysis

RB1 gene mutations and genetic spectrum in retinoblastoma cases

Role of serum endotoxin, FGF19, TLR2, TNF-α, IL-12 and IL-10 in NAFLD-associated T2DM pathogenesis: Insights into Th1 bias and protective mechanisms

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