Cancer is one of the leading causes of death worldwide. It is estimated that in the year 2030, 22 million people will be diagnosed with a neoplastic process. One of the main causes of the development of this disease is the appearance of somatic mutations, especially “point mutations”, which appear with a frequency of 95% in solid tumors.
The most widely used technologies for the search for biomarkers, both in tumor tissue and in liquid biopsy samples, include second generation PCR (qRealTime and RealTime PCR), Next Generation Sequencing (NGS) platforms and digital PCR (dPCR). Although all these platforms promise a sensitivity of more than 98% and a specificity (PPV) greater than 99%, our experience, together with that of other authors, shows that the reality is far from these figures, and most of the predefined gene panels are redundant and uninformative, with low degrees of scientific evidence, and with no real utility in clinical practice.
Based on these limitations, the aim of the project is the development of a platform to identify actionable genetic alterations - genetic alterations against which a drug exists -, based on dPCR technology, from solid tissue samples and liquid biopsies of cancer patients. This type of platform is cheap, offers enormous flexibility to analyze only mutations with clinical value, with high degrees of scientific evidence, and with response times of hours, thus transforming the analysis of liquid biopsies of cancer patients into a useful tool that helps to the physician in decision-making.