Cancer is one of the leading causes of death worldwide. It is estimated that 22 million people will be diagnosed with a neoplastic process in 2030. One of the main causes of this disease is the appearance of somatic mutations, especially “point mutations”, which appear 95% of the time in solid tumours.
The most widely used technologies for the search for biomarkers, both in tumour tissue and in liquid biopsy samples, include next generation PCR (qRealTime and RealTime PCR), Next Generation Sequencing (NGS) platforms, and digital PCR (dPCR). Although all these platforms promise a sensitivity of over 98% and a specificity (PPV) of over 99%, according to our experience, together with that of other authors, this is far from realistic, and most of the predefined gene panels are redundant and uninformative, with low levels of scientific evidence, and with them being of little value in clinical use.
22 mill.
of people will be diagnosed with cancer in 2030 due to an abnormal cell growth
