The aim of the department is to identify and characterize biomarkers for cancer diagnosis and therapy using high-throughput methods, e.g. DNA genome and epigenome sequencing. A current research approach is the use of "liquid biopsies" (e.g. blood samples) for diagnosis and therapy monitoring in cancer patients.

Methylated DNA in human tissues is characteristic of the cells from which it originated. Since cells are continuously regenerated while others die, DNA methylation in blood plasma could serve for early detection of cancer cells, even if a tumor is not yet detectable in the tissue. In addition to methylation, the composition of the microbiome (i.e., the totality of all microorganisms) in the gastrointestinal tract may provide information about the contribution of environmental factors (e.g., diet) in the development of colorectal cancer (CRC).

The project aims to identify specific methylation patterns in the blood plasma DNA of subjects at high risk of developing CRC. Furthermore, molecular microbiome analyses from stool samples of the same subjects (P3) will provide information about the bacterial colonization of the intestine in specific nutritional situations and in precancerous stages. After bioinformatic evaluation (P7), the data obtained will be used to select biomarkers that will be provided for the construction of the automated diagnostic panel (P8).