About the disease

Briefly about the diseases and their targeted therapies

Breast and ovarian cancers are the second and fifth leading causes of cancer deaths among women, respectively. Hereditary forms of these diseases, a consequence of germline mutations in highly penetrable genes such as BRCA1 and BRCA2 as well as genes TP53, PTEN, PALB2, etc., account for 5-10% of all cases diagnosed. Pathogenic mutations in the BRCA1/2 genes confer an estimated 40% to 85% lifetime risk of breast cancer and a 15% to 40% lifetime risk of ovarian cancer. The identification of pathogenic variants in cancer-predisposing genes provides an accurate clinical management of hereditary breast and ovarian cancer (HBOC) families, based on personalised prevention and therapeutic strategies.

However, the majority of the above tumours are sporadic, without the participation of any germline mutation in their formation and development. In these cases, somatic testing of the cancer driver genes is still highly recommended and can significantly improve the prognosis and quality of life of cancer-affected patients. The somatic mutation analysis of tumours can identify therapeutic sensitizing and resistance mutations enabling a more detailed assessment of the diagnosis and prognosis and the identification of targeted therapies directed towards the individual patient’s tumour profile as well. New drugs that specifically target the BRCA1/2 signalling pathways have already been approved, providing an example of personalised therapy.