Risk of Distant Recurrence in Breast Cancer BRCA+ Patients Using a Second Generation Molecular Prognostic Test

Breast cancer is the most common cancer in women worldwide. It affects 1 in 10 women in an industrialized country, representing one third of diagnosed tumors and it is the leading responsibility of deaths. The best cure is for these kinds of tumors is the awareness of prevention. Nowadays, thanks to screening tests such as Ecography and Mammography there are ways to be able to take over abnormalities at the first stage of development, therefore the chances of tumors have decreased. Moreover, it is necessary that every woman regularly perform self-examination of her own breasts that allow her to recognize abnormalities. The personalized therapy is an emerging goal of modern medicine and it is based on the creation of a personal treatment taking into account the genetics and personal data of every patient. The choice of a perfect treatment comes with many factors that include ones histology, their pattern of genic expression and eventually the mutation on the DNA of the patient. To this purpose, biomarkers result to be crucial in the therapeutic choices, in a particular way for what regards chemotherapy. In fact, some tumors despite their typical hormonal status can cause local or systemic recurrence earlier than other kinds of tumors, probably because they have an increased mitotic index or a decrease progesterone expression. In that case, the decision to undergo a patient to chemotherapy is fundamental for the next clinical course, although it is not always taken as the correct decision. The chemotherapy in fact, from one side is very efficient in blocking the tumor growth but on the other hand, it is not able to distinguish the tumor and the healthy cells, and for that reason it can be dangerous. We have to collect more information about the patient in order to take into account the chemotherapy only when it is very indispensable in order to avoid over-treatment or under-treatment. In the last years, many molecular tests have been developed and are able to evaluate the genic expression of each tumor combined with clinical factors such as tumors size, histologic grade and nodal status. These tests provide prognostic information about the risk of recurrence in response to the hormonal therapy. During our Endopredict study, it has been taken into consideration that currently this is the test that has the most power to diagnose early and late recurrence in N+ and N- patient under hormonal adjuvant treatment. The Endopredict efficiency levels overcome those of OncotypeDX TM, which was once the most used in the world. The aim of our study was; first, to demonstrate the Endopredict efficiency in a patient with BRCA germ-line mutation (since this data has not been found in literature) usually these patients undergo chemotherapy treatment prior. Second, to provide evidence of an effective relationship between the EP cline score and the clinic story of each patient recruited, after 5 years from detection, taking into account as an essential requirement to be unknown of a positive mutation at the time of therapeutic choice. Moving forward, we compared the EP cline score of BRCA carriers with patients affected by sporadic tumors and diagnosed negative for the mutation to underline difference from the molecular and clinical point of view.