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New insights into the performance of multigene panel testing: two novel nonsense variants in BRIP1 and TP53 in a young woman with breast cancer

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dc.contributor.authorCastillo-Guardiola, Verónica
dc.contributor.authorMarín-Vera, Miguel
dc.contributor.authorSánchez-Bermúdez, Ana Isabel
dc.contributor.authorAlonso-Romero, José Luis
dc.contributor.authorNoguera Velasco, José Antonio
dc.contributor.authorRuiz Espejo, Francisco
dc.contributor.authorSarabia Meseguer, María Desamparados
dc.contributor.departmentMedicina
dc.date.accessioned2024-11-07T11:37:49Z
dc.date.available2024-11-07T11:37:49Z
dc.date.issued2018-06-23
dc.description© 2018 Elsevier Inc. All rights reserved. This document is the Published version of a Published Work that appeared in final form in Cancer Genetics. To access the final edited and published work see https://doi.org/10.1016/j.cancergen.2018.06.002
dc.description.abstractLi-Fraumeni syndrome is an autosomal-dominant disorder caused by germline mutations in the tumour suppressor gene TP53. Here we report the case of a family whose index case was a woman diagnosed with bilateral breast cancer at the age of 18 and who had a non-informative result after BRCA1 and BRCA2 testing. After extending the study through multigene panel testing, two clinically relevant variants in the TP53 and BRIP1 genes, respectively, were found. Afterwards, the patient developed a glioblastoma. Both tumours were consistent with Li-Fraumeni syndrome. Thanks to the possibility of studying different genes related with hereditary breast and ovarian cancer, it was possible to find out the gene variant that caused the early onset cancers in the patient. Furthermore, genetic counselling was provided to the index case and her family.es
dc.formatapplication/pdfes
dc.format.extent4es
dc.identifier.citationCancer Genetics 228–229 (2018) 1–4
dc.identifier.doihttps://doi.org/10.1016/j.cancergen.2018.06.002
dc.identifier.issnPrint: 2210-7762
dc.identifier.issnElectronic: 2210-7770
dc.identifier.urihttp://hdl.handle.net/10201/146084
dc.languageenges
dc.publisherElsevier
dc.relationSin financiación externa a la Universidades
dc.relation.publisherversionhttps://www.sciencedirect.com/science/article/pii/S2210776217304507?via%3Dihub
dc.rights.accessRightsinfo:eu-repo/semantics/restrictedAccess
dc.subjectLi-Fraumeni syndromees
dc.subjectHereditary breast and ovarian cancer (HBOC)es
dc.subjectNext generation sequencing (NGS)es
dc.subjectNovel mutationses
dc.subjectMultigene panel testinges
dc.titleNew insights into the performance of multigene panel testing: two novel nonsense variants in BRIP1 and TP53 in a young woman with breast canceres
dc.typeinfo:eu-repo/semantics/articlees
dspace.entity.typePublicationes
relation.isAuthorOfPublicationf3810358-f28e-4db9-88fb-457b1c3f4a1f
relation.isAuthorOfPublication0df35bdc-c7fd-417d-9e50-b1b69e17c1ea
relation.isAuthorOfPublication4ca8b838-1db9-4ced-ade1-e3e992f18143
relation.isAuthorOfPublication.latestForDiscoveryf3810358-f28e-4db9-88fb-457b1c3f4a1f
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