Tuberous Sclerosis Complex and Cancer

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dc.contributor.authorDogan, Tunay
dc.contributor.authorYazici, Hulya
dc.date.accessioned2024-05-19T14:39:48Z
dc.date.available2024-05-19T14:39:48Z
dc.date.issued2023
dc.departmentİstinye Üniversitesien_US
dc.description.abstractTuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can affect multiple organ systems such as the brain, heart, and lung, and neurological disorders such as autism spectrum disorder and mental retardation can be observed along with epileptic seizures in affected individuals. The disease can occur at any age. A genetic disease of TSC develops due to the mutations in TSC1 and TSC2 genes that cause dysfunction in Tuberin and/or Hamartin proteins. Although the disease has a highly variable penetrance, the cellular signal transduction mechanisms of TSC-related genes have largely been elucidated. The diagnostic criteria created by International TSC Consensus Group in 2012 are used in the diagnosis of the syndrome in addition to the genetic tests. At present, it is estimated that there are approximately 2 million people with TSC worldwide and 50,000 people are affected by the disease in the USA alone. It is important to know about the molecular genetics and clinical features of the disease for targeted therapies and well-managed surveillance. In the present study, we aimed to examine the genetic, biological, and clinical features of TSC and to discuss the genetic counseling approach that should be applied to patients with TSC.en_US
dc.identifier.doi10.5505/tjo.2023.3986
dc.identifier.issn1300-7467
dc.identifier.scopus2-s2.0-85170227547en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.urihttps://doi.org10.5505/tjo.2023.3986
dc.identifier.urihttps://hdl.handle.net/20.500.12713/4852
dc.identifier.wosWOS:001014581600001en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherKare Publen_US
dc.relation.ispartofTurk Onkoloji Dergisi-Turkish Journal of Oncologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.snmz20240519_kaen_US
dc.subjectCanceren_US
dc.subjectGenetic Counselingen_US
dc.subjectTsc1en_US
dc.subjectTsc2en_US
dc.subjectTuberous Sclerosis Complexen_US
dc.titleTuberous Sclerosis Complex and Canceren_US
dc.typeReview Articleen_US

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