Breast Cancer Prognosis: a genetic code for personalized therapy

Background: breast cancer is classified in three subtypes based on molecular and clinical parameters: luminal type, HER2 and basal type. Luminal type carcinomas (the most frequent, approximately 65% of the total) are characterized by a particular biological behavior, with a recovery from the disease in 40-50% of cases and death in about 75% of these 5 years after diagnosis, despite an initial apparent low aggressiveness. Further biomolecular parameters are needed for this category, which, starting from an estimated cure of the disease, can help us guide therapeutic choices by modeling them on actual needs. Methods: the aim of this work is to build a panel of genes that can allow us to personalize therapy and hopefully reduce mortality. The kit we patented includes about 33 genes that better characterize the heterogeneity of the neoplasm and its sensitivity to drugs. The study was based on the sequencing of the total transcriptome (RNA) of 40 patient samples collected in the two-year period 1994/1995. The aim was to identify a group of genes that are particularly differentially expressed in patients with a good and those with a poor prognosis. Results: RNA was extracted from formalin-fixed and paraffin-embedded samples and then prepared the library for RNA-Seq. The study revealed some genes such as the life CXCL13, the IFITM10 death gene, present regardless of the molecular subtype, and the DSCAM-AS1 gene, specific for the Luminal subtype A. These genes, if present, allow the patient to avoid standard PBI and therapy neoadjuvant. Conclusion: the goal is the implementation of a different surgical and adjuvant personalized therapy tailored to each individual patient.