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Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain)

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dc.contributor.authorSánchez-Bermúdez, Ana Isabel
dc.contributor.authorGarcía-Aliaga, Ángeles
dc.contributor.authorMarín-Vera, Miguel
dc.contributor.authorMacías-Cerrolaza, José Antonio
dc.contributor.authorSánchez Henaréjos, Pilar
dc.contributor.authorGuardiola-Castillo, Verónica
dc.contributor.authorAyala-de la Peña, Francisco
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.accessioned2024-11-07T12:37:06Z
dc.date.available2024-11-07T12:37:06Z
dc.date.issued2018-02-02
dc.description© 2018 Elsevier Masson SAS. All rights reserved. This document is the Published version of a Published Work that appeared in final form in European Journal of Medical Genetics. To access the final edited and published work see https://doi.org/10.1016/j.ejmg.2018.01.015
dc.description.abstractRAD51C and RAD51D have been defined as susceptibility genes for hereditary breast and ovarian cancer syndrome in several studies. In the present study, a mutation analysis of these genes was performed on non BRCA1/2 families. RAD51C and RAD51D genes were analyzed in 141 and 77 families, respectively. The analysis included direct sequencing and multiple ligation probe analysis. The RAD51C pathogenic variant c.404G > A was identified in a breast and ovarian cancer family (0.7%), while the RAD51D pathogenic variant c.694C > T was described in an ovarian cancer family (1.3%). Moreover, three unknown clinical significance variants were detected: c.307T > G in RAD51C, and c.413A > G and c.715C > T in RAD51D. No large genomic rearrangements (LGRs) were found. RAD51D carriers suffered from premenopausal ovarian tumors. These results increase our knowledge about the RAD51C and RAD51D mutation spectrum and support the notion that these genes should be included in the gene panel testing performed on patients with hereditary breast and ovarian cancer syndrome.es
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dc.identifier.citationEuropean Journal of Medical Genetics 61(2018) 355-361
dc.identifier.doihttps://doi.org/10.1016/j.ejmg.2018.01.015
dc.identifier.issnPrint: 1769-7212
dc.identifier.issnElectronic: 1878-0849
dc.identifier.urihttp://hdl.handle.net/10201/146068
dc.languageenges
dc.publisherElsevier
dc.relationSin financiación externa a la Universidades
dc.relation.publisherversionhttps://www.sciencedirect.com/science/article/pii/S1769721217303932?via%3Dihub
dc.rights.accessRightsinfo:eu-repo/semantics/restrictedAccess
dc.subjectHereditary breast and ovarian cancer syndromees
dc.subjectRAD51Ces
dc.subjectRAD51Des
dc.titleMutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain)es
dc.typeinfo:eu-repo/semantics/articlees
dspace.entity.typePublicationes
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relation.isAuthorOfPublication0df35bdc-c7fd-417d-9e50-b1b69e17c1ea
relation.isAuthorOfPublication4ca8b838-1db9-4ced-ade1-e3e992f18143
relation.isAuthorOfPublication.latestForDiscoveryf3810358-f28e-4db9-88fb-457b1c3f4a1f
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