The role of the &lt;i&gt;C3435T&lt;/i&gt; polymorphic marker of the &lt;i&gt;ABCB1&lt;/i&gt; gene in the development of early choroidal melanoma

Saakyan, S.V.; Khlgatyan, M. R.; Tsygankov, Alexander Y.; Бурденный, А. М.; Логинов, В. И.

doi:10.21516/2072-0076-2020-13-1-51-58

Rossijskij oftalʹmologičeskij žurnal

2020

DOI: 10.21516/2072-0076-2020-13-1-51-58

|View full text |Cite

The role of the <i>C3435T</i> polymorphic marker of the <i>ABCB1</i> gene in the development of early choroidal melanoma

S.V. Saakyan

M. R. Khlgatyan

Alexander Y. Tsygankov

et al.

Abstract: Цель работы-определить ассоциацию полиморфного маркера C3435T гена АBСB1 с риском развития начальной меланомы хориоидеи (НМХ) и изучить частоту распределения генотипов полиморфного гена ABCB1 у пациентов с НМХ. Материал и методы. В дизайне проспективного исследования обследовали 26 ранее не леченных пациентов с НМХ (7 мужчин и 19 женщин) в возрасте от 32 до 80 лет (средний возраст-59,0 ± 14,3 года). Всем пациентам проводили общеофтальмологические обследования и специальную инструментальную диагностику (ультраз… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...

Citation Types

Supporting

Mentioning

Contrasting

Year Published

2023

Publication Types

Select...

Article1

Relationship

Self Cite1

Independent0

Authors

Journals

Cited by 1 publication

References 22 publications

(40 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

Minimally invasive differential diagnosis of melanocytic intraocular neoplasms

Tsygankov,

Saakyan,

Myakoshina

et al. 2023

Rossijskij oftalʹmologičeskij žurnal

Self Cite

View full text Add to dashboard Cite

Purpose: to analyze the mutation frequency of the GNAQ/GNA11 gene in circulating tumor DNA and genotypes of the polymorphic marker C3435T of the ABCB1 gene in a large sample of patients with intraocular melanocytic neoplasms (IMN).Material and methods. In an open prospective study performed in 2015–2022, 272 IMN patients with intraocular melanocytic neoplasms aged 28 to 87 (ave. 58.3 ± 12.6), including 187 females (68.8 %) and 85 males (31.2 %), were divided into three groups depending on the nature of the tumor focus: Group I, n = 141, progressing choroidal melanomas; Group II, n = 67, stationary melanomas, and Group III, n = 64, choroidal nevi.Results. In Group I, at least one mutation in the GNAQ/GNA11 gene was detected in 134 patients (95.0 %). Of these, 35 patients (24.8 %) revealed two mutations, and 16 patients (11.3 %) had 3 mutations. In Group II, one mutation was detected in 49 patients (73.1 %), of which three patients (4.5 %) had two mutations. In Group III, one mutation in the GNAQ/GNA11 gene was detected in 13 patients (20.3 %). When comparing the overall frequency of mutations in the GNAQ/GNA11 genes in Groups I and II, significant differences were obtained (OR = 7.03 (2.77 to 17.86), F = 0.000015, ξ2 = 20.6), with Group I having mutations identified in 95 % of cases and Group II, in 73.1 %. Significant differences were also obtained when comparing the frequency of the studied mutations in Groups I and III (OR = 75.1 (28.36 to 198.86), F = 0.0000001, ξ2 = 121.15) with a frequency of 20.3 % in Group III. The frequency of mutations in the GNAQ/GNA11 genes was significantly higher in Group II than in Group III (OR = 10.68 (4.73 to 24.1), F = 0.0000001, ξ2 = 36.64). The frequencies of heterozygous mutations in all 4 exons were significantly higher in Group I than in Groups II and III, except for the GNAQ183 gene when comparing Groups I and II. Heterozygous mutations in all 4 exons were significantly more frequent in Group II than in Group III. Homozygous mutations were found only in Group I patients, but, in spite of this, no significant differences were detected when comparing them with other groups. The frequency of genotype CC of the polymorphic marker C3435T of ABCB1 gene was significantly lower in Group I as compared to Group II, whilst the frequency of genotype CT was significantly higher than in group II.Conclusion. The general analysis of molecular genetic studies of 272 patients with intraocular melanocytic neoplasms showed a direct correlation between the frequency of detection of mutations in genes and the size and source of the tumor. The obtained results substantiate both screening of patients from risk groups and differentiation of patients depending on the size and source of the tumor.

show abstract

Minimally invasive differential diagnosis of melanocytic intraocular neoplasms

Tsygankov,

Saakyan,

Myakoshina

et al. 2023

Rossijskij oftalʹmologičeskij žurnal

Self Cite

View full text Add to dashboard Cite

show abstract

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

customersupport@researchsolutions.com

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

The role of the <i>C3435T</i> polymorphic marker of the <i>ABCB1</i> gene in the development of early choroidal melanoma

Cited by 1 publication

References 22 publications

Minimally invasive differential diagnosis of melanocytic intraocular neoplasms

Minimally invasive differential diagnosis of melanocytic intraocular neoplasms

Contact Info

Product

Resources

About