Molecular diagnosis in clinical oncology

Since 2009, the Unit of Cancer Genetics at CNR of Sassari has been involved in carrying out genetic-molecular analyses on biological samples (tumor tissues and circulating tumor DNA) for identifying mutations predictive of therapeutic response in oncology protocols, in the context of an agreement with the University Hospital (AOU) of Sassari (from 2018 to date). The biological samples come from all health units in Sardinia and, in the context of specific clinical trials, from the main national oncology institutions for the diagnosis and treatment of cancer.

From a scientific point of view, this mutation screening has allowed to conduct translational studies of association between genetic-molecular data and clinical-pathological parameters (histopathology, clinical stage, outcome, survival) in cancer patients for assessing significant correlations with diagnosis, prognosis, and therapy response (characterization of risk-susceptibility factors and identification of prognostic and/or predictive biomarkers).

In recent years, the working group has contributed to the creation of the so-called “Diagnosis-Therapy-Aid Plan” (PDTA) for the patient with melanoma at the University Hospital (AOU) of Sassari (no. 109 on 13/02/2019; PDEL/2019/114), adhering to the national guidelines of the Italian Association of Medical Oncology (AIOM). We also participate in other multidisciplinary teams (MDTs) at the AOU of Sassari for the management of different cancer types: breast carcinoma (Coordinated Association for Multidisciplinary Senology; SMAC), lung cancer (Lung Cancer MDT) and colorectal tumors. Practically, such multidisciplinary groups cooperate for defining the more appropriate and effective diagnostic and therapeutic approaches for the managements of cancer patients.

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