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http://hdl.handle.net/2445/177297
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DC Field | Value | Language |
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dc.contributor.author | Evans, D. Gareth | - |
dc.contributor.author | Messiaen, Ludwine M. | - |
dc.contributor.author | Foulkes, William D. | - |
dc.contributor.author | Irving, Rachel E. A. | - |
dc.contributor.author | Murray, Alexandra J. | - |
dc.contributor.author | Perez-becerril, Cristina | - |
dc.contributor.author | Rivera, Barbara | - |
dc.contributor.author | McDonald McGinn, Donna M. | - |
dc.contributor.author | Stevenson, David A. | - |
dc.contributor.author | Smith, Miriam J. | - |
dc.date.accessioned | 2021-05-14T09:01:06Z | - |
dc.date.available | 2021-05-14T09:01:06Z | - |
dc.date.issued | 2021-04-20 | - |
dc.identifier.uri | http://hdl.handle.net/2445/177297 | - |
dc.description.abstract | Purpose: The LZTR1 gene has been associated with schwannomatosis tumor predisposition and is located in a region that is deleted in the great majority (89%) of patients with 22q11.2 deletion syndrome (22q11.2DS). Since it is known that approximately 1 in 500 people in the general population will develop a sporadic schwannoma and there are no reports of the occurrence of schwannoma in 22q11.2DS, we investigated whether whole-gene deletion of LZTR1 occurs in schwannomatosis and assessed the risk of schwannoma in 22q11.2DS. Methods: We assessed the genetic testing results for LZTR1-associated schwannomatosis and the clinical phenotypes of patients with 22q11.2DS. Results: There were no reports of schwannoma in over 1,500 patients with 22q11.2DS. In addition, no patients meeting clinical diagnostic criteria for schwannomatosis had a whole-gene deletion in LZTR1. Only 1 patient in 110 with an apparently sporadic vestibular schwannoma had a constitutional whole-gene deletion of LZTR1. Conclusion: People with a large 22q11.2 deletion may have a reduced risk of developing a schwannoma compared to the general population. | - |
dc.format.extent | 4 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Springer Nature | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.1038/s41436-021-01175-0 | - |
dc.relation.ispartof | Genetics in Medicine, 2021 | - |
dc.relation.uri | https://doi.org/10.1038/s41436-021-01175-0 | - |
dc.rights | cc by (c) Evans et al., 2021 | - |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es/ | * |
dc.source | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) | - |
dc.subject.classification | Tumors | - |
dc.subject.classification | Genètica | - |
dc.subject.other | Tumors | - |
dc.subject.other | Genetics | - |
dc.title | Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.date.updated | 2021-05-13T13:46:37Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 33879870 | - |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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File | Description | Size | Format | |
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s41436-021-01175-0.pdf | 373.47 kB | Adobe PDF | View/Open |
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