20 miliardi di euro l’anno: i costi per il cancro in Italia – Prevenzione attiva, la vera arma vincente
Genomic instability is the consequence of the progressive accumulation of somatic mutations, which is the indicator of the inability of the tools for DNA Damage Repair (DDR) to correct the lesions that the DNA collects daily. Testing genomic instability by means of traditional tissue-based approaches is largely unfeasible. In a proof-of-principle study, we demonstrated the technical feasibility of extracting and analyzing circulating cell-free DNA (cfDNA) of healthy individuals to detect this instability. The mutation rate is analyzed by means of Multi Biomarker NGS (Next-Generation Sequencing) and by means of sophisticated management software, which allows the identification of the somatic mutations associated with the cancer prodromal stage, that are present at low fractions. Based on these and on subsequent results, we have developed the HELIXBALANCE genomic test, to analyze genome instability as the consequence of the progressive accumulation of somatic mutations.
