Germline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma

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dc.authoridsahin, mustafa/0000-0002-4718-0083
dc.authoridatli, emine ikbal/0000-0001-9003-1449
dc.authoridAytürk Salt, Semra/0000-0002-1560-3459
dc.authoridKorkmaz, Fatma Nur Nur/0000-0002-3994-8320;
dc.authorwosidsahin, mustafa/AAH-3394-2019
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.authorwosidAytürk Salt, Semra/U-4265-2017
dc.authorwosidKorkmaz, Fatma Nur Nur/IZP-6196-2023
dc.authorwosidDemir, Selma/A-1500-2018
dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorGurkan, Hakan
dc.contributor.authorKorkmaz, Fatma Nur
dc.contributor.authorDemir, Selma
dc.contributor.authorAtli, Engin
dc.contributor.authorEker, Damla
dc.contributor.authorGuler, Hazal Sezginer
dc.date.accessioned2024-06-12T11:12:03Z
dc.date.available2024-06-12T11:12:03Z
dc.date.issued2021
dc.departmentTrakya Üniversitesien_US
dc.description.abstractThe aim of this study was to evaluate germline variant frequencies of pheochromocytoma and paraganglioma targeted susceptibility genes with next-generation sequencing method. Germline DNA from 75 cases were evaluated with targeted next-generation sequencing on an Illumina NextSeq550 instrument. KIF1B. RET, SDHB, SDHD, TMEM127, and VHL genes were included in the study, and Sanger sequencing was used for verifying the variants. The pathogenic/likely pathogenic variants were in the VHL, RET, SDHB, and SDHD genes, and the diagnosis rate was 24% in this study. Three different novel pathogenic variants were determined in five cases. This is the first study from Turkey, evaluating germline susceptibility genes of pheochromocytoma and paraganglioma with a detection rate of 24% and three novel variants. All patients with pheochromocytoma and paraganglioma need clinical genetic testing with expanded targeted gene panels for higher diagnosis rates.en_US
dc.identifier.doi10.15586/jkcvhl.v8i1.171
dc.identifier.endpage24en_US
dc.identifier.issn2203-5826
dc.identifier.issue1en_US
dc.identifier.pmid33777662en_US
dc.identifier.startpage19en_US
dc.identifier.urihttps://doi.org/10.15586/jkcvhl.v8i1.171
dc.identifier.urihttps://hdl.handle.net/20.500.14551/23022
dc.identifier.volume8en_US
dc.identifier.wosWOS:000752424000003en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherCodon Publicationsen_US
dc.relation.ispartofJournal Of Kidney Cancer And Vhlen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectParagangliomaen_US
dc.subjectPheochromocytomaen_US
dc.subjectTargeted Sequencingen_US
dc.subjectSusceptibility Genesen_US
dc.subjectGuidelinesen_US
dc.subjectGeneticsen_US
dc.subjectOutcomesen_US
dc.titleGermline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paragangliomaen_US
dc.typeArticleen_US

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