Abstract

Since the discovery of the familial breast cancer susceptibility genes BRCA1 and BRCA2, genetic counseling and molecular analysis in the identification of mutations responsible for the increased risk of breast and ovarian cancer have become crucial steps in the clinical practice. In fact, the identification of pathogenic BRCA1/2 mutations provides useful information about the risk of a second cancer in the proband, the possible presence of the same mutation in healthy relatives of the patient and the different preventative and therapeutic approaches. However, due to the high costs and some technical limitations, the cost effectiveness ratio of BRCA1/2 gene testing should be carefully evaluated in the different cases, considering the psychological implications related to this kind of analysis. In this review, the different criteria for the selection of patients, the role of genetic counseling and the different approaches for the molecular analysis will be discussed, in order to provide a picture of the different strategies aimed to increase the sensitivity and specificity of BRCA1/2 genetic testing.

Keywords: BRCA1 genes, BRCA2 genes, genetic counseling, mutation analysis, familial breast cancer, BRCA1/2 gene testing, BRCA1 cancer, BRCA2 cancer, molecular analysis, hereditary breast cancer