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They create the first genomic test for the personalized treatment of a type of breast cancer

Researchers from the Clinico-IDIBAPS-UB, the Vall d’Hebron Institut d’Oncologia, the University of Padua and the company Reveal Genomics have developed and validated the first genomic test that predicts the prognosis of patients with HER2+ breast cancer in early stages. It also predicts the probability of responding to pharmacological treatments administered before tumor surgery. The tool, called HERDX, integrates the patient’s clinical data with genomic data. HER2+ breast cancer represents 20% of diagnosed breast tumors and accounts for some 100,000 cases per year in Europe.

For more than five years, the line of these researchers has made it possible to describe the biological heterogeneity of HER2+ disease and to identify patients with different benefits of treatment and patients with different risks of relapse after receiving a diagnosis of breast cancer.

The head of the Medical Oncology Service at the Hospital Clínic, Aleix Prat, explains that the objective was to help the patient and the oncologist to make more accurate therapeutic decisions. To achieve this, they integrated clinical and genomic data from more than 1,000 patients.

Until now, there were no tools to predict relapse risk and survival beyond tumor size and the presence of disease in the axillary nodes. Instead, HER2DX measures the RNA levels of 27 genes and uses intelligent analytical software to divide patients into low- or high-risk groups through scores (from 0 to 100).

To achieve this goal, HER2DX captures the four most important biological processes of HER2+ breast cancer, such as the activation of the immune system within the tumor, the differentiated state of tumor cells, tumor proliferation, and the expression of the HER2 gene itself and various neighboring genes on chromosome 17.

Information provided by the 27 genes, along with tumor size and axillary node involvement, is used to provide patient prognosis and tumor sensitivity to chemotherapy and anti-HER2 treatments given before surgery of the tumour. Each of these two indicators was subjected to several validations to demonstrate reliability in multiple cohorts with a total of more than 1,000 patients.

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