Investigation of the methylation changes in the promoter region of RB1 gene in retinoblastoma: Unraveling the epigenetic puzzle in retinoblastoma

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dc.authoridÇelik, Betül/0000-0001-7923-275X
dc.authoridKILIÇ ERCİYAS, Seda/0000-0003-4417-4005
dc.authoridSUKRUOGLU ERDOGAN, OZGE/0000-0002-0893-1251
dc.authorwosidÇelik, Betül/AAS-5296-2020
dc.authorwosidKILIÇ ERCİYAS, Seda/P-9346-2015
dc.authorwosidSUKRUOGLU ERDOGAN, OZGE/HLG-2618-2023
dc.contributor.authorErdogan, Ozge Sukruoglu
dc.contributor.authorOdemis, Demet Akdeniz
dc.contributor.authorKayim, Zubeyde Yalniz
dc.contributor.authorGurbuz, Orkun
dc.contributor.authorTuncer, Seref Bugra
dc.contributor.authorKilic, Seda
dc.contributor.authorCelik, Betul
dc.date.accessioned2024-05-19T14:46:31Z
dc.date.available2024-05-19T14:46:31Z
dc.date.issued2024
dc.departmentİstinye Üniversitesien_US
dc.description.abstractRetinoblastoma is an infrequent neoplasm that arises during childhood from retinal nerve cells and is attributed to the biallelic inactivation of the RB1 gene. In conjunction with anatomical anomalies, it is widely acknowledged that epigenetic modifications play a significant role in the pathogenesis of cancer. The association between methylation of the RB1 gene promoter and tumor formation has been established; however, there is currently no scholarly evidence to substantiate the claim that it is responsible for the inheritance of retinoblastoma. The initial hypothesis posited for this work was that familial retinoblastoma disease would be similarly observed in cases with RB1 promotor gene methylation, akin to RB1 mutations. The RB1 gene promoter region was subjected to methylation screening using real-time PCR in individuals diagnosed with familial retinoblastoma but lacking RB1 mutations. The study involved a comparison of the germline methylation status of the RB1 gene in the peripheral blood samples of 50 retinoblastoma patients and 52 healthy individuals. The healthy individuals were carefully selected to match the retinoblastoma patients in terms of age, sex, and ethnicity. The data obtained from both groups were subjected to statistical analysis. The study revealed that the methylation level in a cohort of 50 individuals diagnosed with retinoblastoma and 52 healthy control participants was determined to be 36.1% and 33.9%, respectively. As a result, there was no statistically significant disparity observed in RB1 promoter methylation between the patient and control groups (p = 0.126). The methylation of the promoter region of the RB1 gene in familial retinoblastoma does not exert any influence on the hereditary transmission of the disease.en_US
dc.description.sponsorshipIstanbul University, Research Fund [TSA-2017-23070]en_US
dc.description.sponsorshipThis study was supported by Istanbul University, Research Fund, Project Numbers: TSA-2017-23070.en_US
dc.identifier.doi10.1016/j.prp.2023.154939
dc.identifier.issn0344-0338
dc.identifier.issn1618-0631
dc.identifier.pmid38006838en_US
dc.identifier.scopus2-s2.0-85181715438en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.urihttps://doi.org10.1016/j.prp.2023.154939
dc.identifier.urihttps://hdl.handle.net/20.500.12713/5541
dc.identifier.volume253en_US
dc.identifier.wosWOS:001125548600001en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherElsevier Gmbhen_US
dc.relation.ispartofPathology Research and Practiceen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.snmz20240519_kaen_US
dc.subjectRetinoblastomaen_US
dc.subjectRb1 Geneen_US
dc.subjectPromoter Methylationen_US
dc.subjectFamilial Carcinomaen_US
dc.titleInvestigation of the methylation changes in the promoter region of RB1 gene in retinoblastoma: Unraveling the epigenetic puzzle in retinoblastomaen_US
dc.typeArticleen_US

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