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.

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Pilot study: Cancer screening from home is possible

"HPV-Vorsorge durch Selbsttests in die eigene Hand nehmen" - Auf dem Bild sind Hände zu sehen, in denen die Buchstaben für HPV liegen.shutterstock.com 1936727821

A large proportion of women who develop cervical cancer in high-income countries such as Germany do not regularly attend screening. This is particularly alarming, as cancer screenings have become much less frequent since the onset of the corona pandemic. A study by Hannover Medical School and the biotechnology company oncgnostics GmbH is testing self-tests as a possible solution to reach more people. Cervical cancer also has the best chance of recovery if detected early. The study results show that specific screening tests can be performed at home in the future.

Procedure of the pilot study

For the study, 87 patients at the colposcopy clinic of Hannover each took a smear test on themselves. A gynecological specialist then took another smear. In the first step, the samples were tested for HPV infections present. The GynTect cervical cancer test from oncgnostics was then used for all samples. This determines whether the existing HPV infection heals on its own or can develop into cancer. No further smear test is necessary for this. The test is carried out in the laboratory with the sample at hand.

In 95.5 percent of the self-smears, the result of the HPV tests matched those of the samples taken by the doctors. This is seen as a good sign that women could self-sample for this test in the future. For the GynTect test, the agreement between self-tests and physician samples was lower.

Detection with independently taken samples can work

“GynTect works by using specific biomarkers. It examines the DNA of cells in a smear and raises the alarm if there are  changes typical of cancer. The study suggests that precancerous lesions as well as cancer can be detected well even with samples taken independently. Of course, the method needs to be further optimised to increase the hit rate. We are also currently working on the detection of the markers in urine samples. We are obtaining promising initial results. In addition, urine samples are much easier for the patient to take than swabs,” explains Martina Schmitz, Managing Director of oncgnostics GmbH and co-author of the study.

For further research and development on the self-tests, the Jena-based biotechnology company continues to cooperate with the Hannover Medical School and two research institutions in the Netherlands and Belgium.

Large-scale study “HaSCo”

Based on the promising results of this feasibility study, GynTect will be used as a clarification test for HPV-positive self-tests in the large-scale HaSCo study of the Hanover Medical School, which will start later this year and include >20,000 subjects.

Almost every adult becomes infected with HPV at some point in their lives without realising it. It is estimated that six million women in Germany become infected with HPV each year. Each year, several hundred thousand of them are diagnosed with abnormalities, some of which could develop into cervical cancer. About 4,300 develop cancer, which in turn kills about 1,600 affected individuals.

 

Picture: MIA Studio / Shutterstock.com

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