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

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Date
2018-02-02
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Sánchez-Bermúdez, Ana Isabel ; García-Aliaga, Ángeles ; Marín-Vera, Miguel ; Macías-Cerrolaza, José Antonio ; Sánchez Henaréjos, Pilar ; Guardiola-Castillo, Verónica ; Ayala-de la Peña, Francisco ; Alonso-Romero, José Luis ; Noguera Velasco, José Antonio ; Ruiz Espejo, Francisco ; Sarabia Meseguer, María Desamparados
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Publisher
Elsevier
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Medicina
DOI
https://doi.org/10.1016/j.ejmg.2018.01.015
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info:eu-repo/semantics/article
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
Abstract
RAD51C 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.
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Hereditary breast and ovarian cancer syndrome , RAD51C , RAD51D
Citation
European Journal of Medical Genetics 61(2018) 355-361
URI
http://hdl.handle.net/10201/146068
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