Main Aims

The Città della Salute e della Scienza is a benchmark center for oncology with more than 12000 patients affected by different types of tumors, including breast and ovary cancers, colon cancer, prostate cancer, melanomas, sarcomas.

This workpackage involves the Medical Genetics Unit, the Pathology Units and the Dermatology Unit and relies on large cohorts of samples already available and to be recruited during the project. Specifically, a biobank of tissues and clinical data from more than 800 cases of breast cancer and 7000 cases of melanomas is already available (Pathology Unit), as well as, a biobank of blood, DNA, genetic and clinical data of more than 450 cases of breast cancer and 300 cases of melanomas (Medical Genetics Unit).

The main aims of this workpackage are:

1. identification by selected panel of genes or WES of germline mutations in 450 cases of breast cancer (bilateral/familial) and 300 cases of melanomas (multiple/familial)

2. genetic and molecular characterization, by analyzing the gene expression of  50 selected genes, of breast cancer showing specific features (e.g., HER2-enriched) for a better stratification of patients in a translational perspective (e.g., target therapy)

3. analysis of 200 progressive vs non-progressive melanomas by NGS to identify genes responsible for different tumor behavior

4. detection of residual disease or progression after therapeutic regimens in 200 cases of melanomas (BRAF mutated or wild-type) by mutational profiling based on liquid biopsy (cell-free DNA)

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