Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain)
| Autor: | José Luis Alonso-Romero, Verónica Guardiola-Castillo, Ángeles García-Aliaga, José A. Noguera-Velasco, Ma Desamparados Sarabia-Meseguer, Pilar Sánchez Henarejos, Ana Isabel Sánchez-Bermúdez, Francisco Ayala-de la Peña, José Antonio Macías-Cerrolaza, Miguel Marín-Vera, Francisco Ruiz-Espejo |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine Genotype DNA Mutational Analysis Genes BRCA2 Genes BRCA1 Biology 03 medical and health sciences 0302 clinical medicine Genetics medicine Humans Genetic Predisposition to Disease Clinical significance Gene Genetics (clinical) Genetic Carrier Screening General Medicine medicine.disease Pedigree DNA-Binding Proteins Mutational analysis Phenotype 030104 developmental biology Premenopause Spain Case-Control Studies 030220 oncology & carcinogenesis Mutation Mutation (genetic algorithm) Mutation testing Hereditary Breast and Ovarian Cancer Syndrome RAD51C Female Ligation Ovarian cancer |
| Zdroj: | European Journal of Medical Genetics. 61:355-361 |
| ISSN: | 1769-7212 |
| DOI: | 10.1016/j.ejmg.2018.01.015 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect