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Article: Genetic variants of targetable cancer-related genes in vestibular schwannomas

TitleGenetic variants of targetable cancer-related genes in vestibular schwannomas
Authors
KeywordsVestibular schwannoma
genetic variants
targeted DNA sequencing
targeted therapy
Issue Date2020
PublisherLIDSEN Publishing Inc. The Journal's web site is located at http://www.lidsen.com/journals/genetics
Citation
OBM Genetics, 2020, v. 4 n. 2, p. article no. 11 How to Cite?
AbstractBackground: Vestibular schwannoma is an intracranial tumor which can lead to devastating neurological deficit and is prone to recurrence after surgery. Patients with inherited neurofibromatosis type 2 (NF2) syndrome are particularly susceptible to bilateral and aggressive schwannomas. However, the genome of vestibular schwannomas is not well known. There is an imminent need of developing effective chemotherapeutic agents either as a primary treatment modality or as adjuvant therapy for these patients. Methods: Here, we subjected both sporadic and NF2-related schwannomas to high-throughput DNA sequencing using a panel of therapeutically important cancer-related genes, in order to determine if targetable genetic changes are present in schwannomas. Results: A number of variants were detected in the genes NRAS, PDGFRA, KIT, and EGFR, in both sporadic and NF2-related cases. The results were confirmed by Sanger sequencing. Conclusion: Our study successfully detected some genetic variants in important cancer-related genes in schwannomas, and further elucidation of their relationship to drug-response will be pursued.
Persistent Identifierhttp://hdl.handle.net/10722/284865
ISSN
2023 SCImago Journal Rankings: 0.160

 

DC FieldValueLanguage
dc.contributor.authorCheung, AHK-
dc.contributor.authorTsui, NBY-
dc.contributor.authorCho, WCS-
dc.contributor.authorPei, XM-
dc.contributor.authorWong, YKE-
dc.contributor.authorTsang, HFA-
dc.contributor.authorLeung, GKK-
dc.contributor.authorWong, SCC-
dc.date.accessioned2020-08-07T09:03:39Z-
dc.date.available2020-08-07T09:03:39Z-
dc.date.issued2020-
dc.identifier.citationOBM Genetics, 2020, v. 4 n. 2, p. article no. 11-
dc.identifier.issn2577-5790-
dc.identifier.urihttp://hdl.handle.net/10722/284865-
dc.description.abstractBackground: Vestibular schwannoma is an intracranial tumor which can lead to devastating neurological deficit and is prone to recurrence after surgery. Patients with inherited neurofibromatosis type 2 (NF2) syndrome are particularly susceptible to bilateral and aggressive schwannomas. However, the genome of vestibular schwannomas is not well known. There is an imminent need of developing effective chemotherapeutic agents either as a primary treatment modality or as adjuvant therapy for these patients. Methods: Here, we subjected both sporadic and NF2-related schwannomas to high-throughput DNA sequencing using a panel of therapeutically important cancer-related genes, in order to determine if targetable genetic changes are present in schwannomas. Results: A number of variants were detected in the genes NRAS, PDGFRA, KIT, and EGFR, in both sporadic and NF2-related cases. The results were confirmed by Sanger sequencing. Conclusion: Our study successfully detected some genetic variants in important cancer-related genes in schwannomas, and further elucidation of their relationship to drug-response will be pursued.-
dc.languageeng-
dc.publisherLIDSEN Publishing Inc. The Journal's web site is located at http://www.lidsen.com/journals/genetics-
dc.relation.ispartofOBM Genetics-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.subjectVestibular schwannoma-
dc.subjectgenetic variants-
dc.subjecttargeted DNA sequencing-
dc.subjecttargeted therapy-
dc.titleGenetic variants of targetable cancer-related genes in vestibular schwannomas-
dc.typeArticle-
dc.identifier.emailLeung, GKK: gkkleung@hku.hk-
dc.identifier.authorityLeung, GKK=rp00522-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.21926/obm.genet.2002112-
dc.identifier.hkuros312476-
dc.identifier.volume4-
dc.identifier.issue2-
dc.identifier.spagearticle no. 11-
dc.identifier.epagearticle no. 11-
dc.publisher.placeUnited States-
dc.identifier.issnl2577-5790-

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