Epigenetic markers – definition and significance for early cancer detection

As a biotechnology company, we have been researching cancer diagnostics on a molecular basis since 2012. We deal with epigenetic markers, which help us to recognise cancers, such as cervical cancer, in their preliminary stages. In this article, we explain the terms “epigenetics” and “epigenetic marker”.

Epigenetics – what is it?

Epigenetics deals with the heritable, genetic modification of DNA. This happens without the DNA changing within its sequence. The term is composed of two parts: “epi” is Greek for “to” or “above” and “genetics”. Accordingly, epigenetics deals with the level above genetics. For our work, this means that we do not devote ourselves to the DNA sequence that is crucial for coding the genes. Rather, we focus on the chemical change of DNA.

In order to understand what that means, one thing is important to know: Every person has a genome, but many epigenomes – depending on the cell type. The epigenomes, in turn, are influenced and changed by the environment, living conditions or eating habits. Like switches of a cell, they determine which genes or gene segments are used and which are switched off. This explains, for example, why identical twins look different in nuances. Or why only one sibling gets a disease even though both are genetically identical. So-called epigenetic markers are responsible for this at the molecular biological level.

Epigenetic markers show when genes are turned on and off 

Let us stick to the image of the epigenome as a switch that silences parts of a genome. The epigenetic markers are therefore the markings that determine the exact section to be silenced. This takes place, among other things, in the form of methylations. Small molecules, so-called methyl groups, dock to a strand of DNA within the epigenetic marker regions. They prevent a neighboring gene sequence from being read and translated into a protein. The gene segment remains silent.

Epigenetics and cancer

Certain characteristics of the epigenetic changes described above can reprogram the function of cells so that they develop into tumor cells. This is how, for example, cervical cancer develops.

And this is where our research begins. We identify epigenetic markers that occur in cancer, specifically DNA methylation. Our tests should be able to detect these markers as early as possible. Because for every cancer therapy, the sooner it starts, the higher the chances are for a recovery. Our first diagnostic test GynTect® is based on six of these DNA methylation markers. It is already being used successfully in cervical cancer screening.