Early diganosis of cancer via DNA analysis of patient blood sample analysis

Purpose and goal

The goal of the project was to "determine, by analysis of a patient´s blood, whether the patient has cancer (generally, regardless of cancer type)". The result shows that the analysis of single DNA molecule mutations allows for early signs of cancer to be detected through blood sample analysis. With normal DNA sequencing using so-called amplification by PCR, no mutations in samples containing cancer are found. In DNA sequencing of single DNA molecules in the sample containing cancer using Gnothis single molecule sequencing, mutations could be seen for a number of single DNA molecules.

Expected results and effects

DNA sequencing of single DNA molecules in a sample containing cancer revealed mutations for a number of single DNA molecules, but these mutations could not be seen by conventional DNA sequencing. In the relevant patient samples, there are a few DNA molecules. This is the reason why only DNA sequencing of single DNA molecules can see these mutations and not conventional DNA sequencing. Conventional DNA sequencing only sees the dominant sequence in a sample and can not see more than one sequence in a patient sample.

Planned approach and implementation

Gnothis received samples from Professor Auer. Furthermore, Professor Auer informed which mutation sites on DNA that were relevant to study for mutations. Then, measurement of Professor Auer´s samples was conducted with both conventional DNA sequencing and Gnothis DNA sequencing of single DNA molecules. The results show that Gnothis DNA sequencing of single DNA molecules can see mutations in minority groups of DNA molecules in the samples.