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Humanitas Clinical and Research Center – IRCCS, Italy

Marta Monari is a Biologist specialized in microbiology and virology with a II level master in virology and a Diploma en Genética Médica. She is the contract professor in two different Italian University: Humanitas Milano and Insubra Varese. She had worked as director of the clinical laboratory. Now she is the clinical and technical coordinator of laboratories of Humanitas Hospital group since 3 /05/2018, it is a group of 10 laboratories up 8 ML of exams, divided in all laboratory specialties.


Breast cancer is the most common tumor in female; only in 2017 about 52.300 women fell it in Italy. This is a multifactorial pathology; it is a sporadic disease in the majority of the cases and it does not any kind of hereditary genes transmission, but sometimes, around 10%it could be hereditary, in particular for BRCA1-2, p53, PTEN, STK11, CDH1, PALB2, CHEK2, BARD1, BRIP1, NBN etc. Only in Sicily, 3.027 new cases every year are registered for this tumor with an incidence of 117 cases on 100.000 women and the two cities with the highest rate of this illness are Catania and Caltanissetta. After diagnosis, performed by histological analysis, the patients meet the Oncologic Genetic Counselling (OGC), where the oncologists end geneticist analyzed the clinical history of the patients and, on the bases of literature guidelines, decide if do or not the next generation sequencing (NGS) test, a second level test, before therapy. In 5 months the OGC of Hospital Centro Catanese di Oncology (CCO), decided to performed 48 NGS test in men and women. The aim of this study is to verify the accuracy of our enrolment, whether the percentage of the mutated gene in our samples is in line with the data present in literature. Between 48 patients suspected for a hereditary breast cancer, 2 are men and 46 women with a median age of 44, 08 (26-75 years). We have registered 75% of positive cases between men (37 years old and 65 years old both BRCA2+) and 27% between women (30,5 median age for BRCA1+, 48,01 median age for BRCA2+, 39 years old for family gene note mutation, and 34 years old for CHEK2). The total positivity for the test is 29, 16% and is very high compared to the Italian and world incidence. These results supported and confirmed the optimal skimming operated by physician and could help our EUSOMA (European Society of Breast Cancer Specialist) unit to understand the genetic bases of high rate of breast cancer in Sicily to ameliorate direct screening and treatment. The application of quality indicators is essential to improve organization, performance and outcome in breast care. Efficacy and compliance have to be constantly monitored to evaluate the quality of patient care and to allow appropriate corrective actions leading to improvements in patient care.

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