Biological and clinical significance of BRCA2

Abstract

Nowadays, diagnostics enables detection of cancer-related mutations. It concerns germline mutations as well as de novo mutations. The number of genetics tests available for specific tumors increase in cessantly. BRCA1 and BRCA2 are highpenetrant genes, but still their functions and mechanisms leading to cancer caused by their mutations remain un known. Germline alterations in BRCA1 and BRCA2 sequences are related to hereditary breast cancer syndrome (HBC), hereditary breast and ovarian can cer syndrome (HBOC), hereditary ovar ian cancer syndrome (HOC). Primary and secondary tumors prevention and choice of the best treatment are the benefits of the detection of BRCA2 mutations. Re search on correlation between the tumor phenotype and the type of mutation is continuously performed. This research may have an impact on the development of more effective drugs.