Effective Use of Next Generation Sequencing For Genetic Diagnosis of a Patient With a Mosaic Tsc2 Variant

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dc.contributor.authorÇifcibaşı, Hilal Sena
dc.contributor.authorGülbal, Elçin
dc.contributor.authorErdoğan, Ayşenur
dc.contributor.authorDemirci, Ayşenur
dc.contributor.authorDemir, Selma
dc.date.accessioned2021-11-20T10:26:58Z
dc.date.available2021-11-20T10:26:58Z
dc.date.issued2018
dc.departmentFakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Anabilim Dalıen_US
dc.description.abstractAims: Tuberous sclerosis complex is a genetic disorder characterized by mutations in Tuberous Sclerosis Complex 1 (* 605284) or Tuberous Sclerosis Complex 2 (* 191092) genes. PALB2 (* 610355) gene has long been known to be associated with increased breast and pancreatic cancer risk. Its association with risk of stomach and lung cancers has also been established recently. In this case report, it is aimed to present a case of a 24-year-old female patient, who has been diagnosed with both novel mosaic Tuberous Sclerosis Complex 2 pathogenic variation and pathogenic PALB2 variation at the same time. Case Report: A 24-year-old female patient was admitted to Trakya University Genetic Diseases Center with suspected tuberous sclerosis complex. Her primary complaints were a continuous headache and fatigue. She had no history of convulsion and seizure. There were bilateral facial angiofibromas around her nose. When genomic DNA was isolated, both novel mosaic Tuberous Sclerosis Complex 2 pathogenic variation and pathogenic PALB2 variation were observed. Conclusion: This case report shows that in cancer predisposing syndromes, Next-generation sequencing is a powerful technique to portrait a detailed genetic profile of patient, investigating for any mosaicism or other risk allelesen_US
dc.identifier.dergipark439216en_US
dc.identifier.endpage46en_US
dc.identifier.issn2148-4724
dc.identifier.issn2548-0030
dc.identifier.issue2en_US
dc.identifier.startpage43en_US
dc.identifier.urihttps://dergipark.org.tr/tr/pub/tmsj/issue/38047/439216
dc.identifier.urihttps://dergipark.org.tr/tr/download/article-file/498307
dc.identifier.urihttps://hdl.handle.net/20.500.14551/6237
dc.identifier.volume5en_US
dc.language.isoenen_US
dc.publisherTrakya Üniversitesien_US
dc.relation.ispartofTurkish Medical Student Journalen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectTuberous sclerosisen_US
dc.subjectmosaicismen_US
dc.subjectmutationen_US
dc.titleEffective Use of Next Generation Sequencing For Genetic Diagnosis of a Patient With a Mosaic Tsc2 Varianten_US
dc.typeArticleen_US

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