In recent years many new scientific findings concerning cancer research have been reported, which have led not only to new therapies but also to new diagnostic methods. Today we know that in a very large number of cases a tumour is indicated by substantial changes in the genetic material of the degenerated cells. This difference between the genetic material of the tumor cells and the normal cells of the body can be detected with modern procedures.
Many tumors release their cellular content such as DNA into the bloodstream e.g. due to cell death. These tumour-specific changes, at sufficiently high concentration, can be detected and quantified as cell-free tumour DNA in the blood.
Cancer is a disease in which mutations in the genomic DNA of an individual cell lead to a disruption of the normal checks and balances (homeostasis), which in normal state ensure that cell multiplication is matched closely to the body’s needs. A cancer cell has lost the ability to respond to homeostatic needs and continues to divide relentlessly, in one or multiple (metastatic) sites, e.g. driven by positive (oncogene) or lack of negative (suppressorgene) influences.
These mutations in the already developed tissue/organ (somatic) cells lead to cancer (e.g. breast, lung, colon) and in the overwhelming majority of adult cancers this follows after the accumulation of multiple mutations. There is evidence suggesting that aneuploidy, which appears as amplifications and/or losses of large sequences of genetic material, develops earlier than the bulk of mutations, which occur in single DNA base pairs**. This aneuploidy is a major hallmark of genomic changes in malignant cell transformation, which occurs early and is the underpinning foundation of our CNI scoring assays.
The blood analysis to determine cell-free tumour DNA is a new tool, which can help in the assessment of the efficacy of drug therapies in tumour diseases. The CNI-Score we provide is reflecting the amount of circulating tumour DNA.