RAD51C y RAD51D en el síndrome de cáncer de mama y ovario hereditario

Abstract

The risk of breast cancer doubles in first-degree relatives of women with breast cancer, while the risk of ovarian cancer triples in relatives affected by this disease compared with women with no family history. The most common inherited predisposition syndrome for these cancers is the hereditary breast and ovarian cancer syndrome. This syndrome is mainly related to germline alterations in the BRCA1 and BRCA2 genes, but the study of other susceptibility genes is currently a very active research field. This work focuses on the involvement of the RAD51C and RAD51D genes in hereditary breast and ovarian cancer syndrome. The aim of the study is to know the molecular relationship of these genes with BRCA1 and BRCA2 through the homologous recombination mechanism and to carry out a mutational prevalence analysis of RAD51C and RAD51D in works published to date, in order to provide information about the genotype-phenotype relationship within families with hereditary breast and ovarian cancer syndrome. The mutational prevalence found in RAD51C and RAD51D ranges between 0 % and 2.9 % and between 0.2 % and 2.1 %, respectively, varying notably depending on the study population and the family phenotype. The highest mutational prevalence in both genes was found in families in which breast cancer and ovarian cancer coexisted.