RNA splicing aberrations in hereditary cancer: Insights from Turkish patients

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dc.authorid0000-0003-4417-4005
dc.authorid0000-0002-0893-1251
dc.authorid0000-0001-7923-275X
dc.authorid0000-0002-3137-051X
dc.authorid0000-0002-8919-0482
dc.authorid0000-0001-8023-3223
dc.contributor.authorKılıç, Seda
dc.contributor.authorŞükrüoğlu Erdoğan, Özge
dc.contributor.authorTuncer, Şeref Buğra
dc.contributor.authorÇelik Demirbaş, Betül
dc.contributor.authorYalnız Kayım, Zübeyde
dc.contributor.authorYazıcı, Hülya
dc.date.accessioned2024-11-27T13:59:44Z
dc.date.available2024-11-27T13:59:44Z
dc.date.issued2024
dc.departmentFakülteler, Tıp Fakültesi, Temel Tıp Bilimleri Bölümü, Tıbbi Biyoloji Ana Bilim Dalı
dc.description.abstractThe process of RNA splicing is fundamental in contributing to proteomic diversity and regulating gene expression. Dysregulation of splicing is associated with various human disorders, including cancer. Through functional studies, this study sought to examine the potential impact of seven variants within six inherited cancer-related genes on RNA splicing patterns in Turkish cancer patients. Upon detecting variants using Next-Generation Sequencing (NGS), we used Reverse Transcriptase Polymerase Chain Reaction (RT-PCR) and Sanger sequencing to elucidate the effects of these variants on splicing. Three of the seven variants demonstrated no discernible effect on RNA, while four exhibited pathogenic characteristics. Specifically, the variants APC c.532-1G>A rs1554072547, BRCA1c.4358-3A>G rs1567779966, BRCA2c.7436-1G>C rs81002830 and MSH3c.1897- 1G>A rs1744149615 were identified as pathogenic, while the variants BLMc.4076+4T>G rs183176301, RB1c.2489+2T>C rs1555294636 and RB1c.1050-2A>G rs? were found to be benign from a splicing perspective. These findings highlight the importance of verifying the precise consequences of splice site variants through experimental analysis, given their potential implications for genetic disorders and cancer predisposition. This research contributes to the understanding of splice-site variants in inherited cancer predisposition, particularly among Turkish cancer patients. It emphasizes the necessity for further exploration into the mechanisms and functional consequences of alternative splicing for potential therapeutic interventions in cancer.
dc.description.sponsorshipThis research was funded by Scientific Research Projects Unit of Istanbul University, Project No: TDK-2018-30484
dc.identifier.citationKılıç, S., Şükrüoğlu Erdoğan, Ö., Tuncer, Ş. B., Çelik Demirbaş, B., Yalnız Kayım, Z., & Yazıcı, H. (2024). RNA splicing aberrations in hereditary cancer: Insights from Turkish patients. Current Issues in Molecular Biology, 46(11), pp. 13252-13266. https://doi.org/10.3390/cimb46110790
dc.identifier.doi10.3390/cimb46110790
dc.identifier.endpage13266
dc.identifier.issn1467-3045
dc.identifier.issn1467-3037
dc.identifier.issue11
dc.identifier.pmidPMID: 39590384
dc.identifier.scopusqualityQ3
dc.identifier.startpage13252
dc.identifier.urihttps://doi.org/10.21278/TOF.483062023
dc.identifier.urihttps://hdl.handle.net/20.500.13055/858
dc.identifier.volume46
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.indekslendigikaynak.otherSCI-E - Science Citation Index Expanded
dc.institutionauthorYazıcı, Hülya
dc.institutionauthorid0000-0002-8919-0482
dc.language.isoen
dc.publisherMultidisciplinary Digital Publishing Institute (MDPI)
dc.relation.ispartofCurrent Issues in Molecular Biology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectmRNA
dc.subjectSplicing Error
dc.subjectVariant of Clinical Relevance
dc.subjectFunctional
dc.subjectCancer
dc.subjectTurkish
dc.titleRNA splicing aberrations in hereditary cancer: Insights from Turkish patients
dc.typeArticle
dspace.entity.typePublication

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