Article
Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain).
European journal of medical genetics - 1 Jun 2018
Sánchez-Bermúdez Ana Isabel, Sarabia-Meseguer Ma Desamparados, García-Aliaga Ángeles, Marín-Vera Miguel, Macías-Cerrolaza José Antonio, Henaréjos Pilar Sánchez, Guardiola-Castillo Verónica, Peña Francisco Ayala-de la, Alonso-Romero José Luis, Noguera-Velasco José Antonio, Ruiz-Espejo Francisco
Abstract excerpt
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...
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