Cancer and gene changes

The Vissing Foundation is supporting a research project where the aim is to make better assessments of genetic changes in the MSH6 gene in Danish cancer patients.

MSH6 is a gene that plays a role in repairing damaged DNA. If the gene does not function properly, it may lead to Lynch syndrome, an inherited condition that increases the risk of colorectal cancer.

Many different changes can occur in the MSH6 gene. Some cause disease, while others are completely harmless. In the great majority of cases – almost 90 % – it is not known whether they are harmful or not. This means it is difficult to give patients and families clear advice and to select the appropriate treatment.

“In this project we have developed a method to test whether these genetic changes affect the function of the gene. We test the method first on changes where we already know the answer. Then we use it to investigate all changes identified in Danish patients where the significance is unknown. In the longer term, the method will be adapted, so that it can be used directly on the patient’s own cells,” explains Thomas van Overeem Hansen, Professor of Functional Genetics, Department of Genetics at the Rigshospital.

The researchers will investigate cancer tissue to see whether the MSH6 gene functions correctly, and to collect details from genetic analyses, courses of disease and laboratory tests. This will allow a more reliable assessment of the individual genetic change.

“It will lead to a method that can be used clinically to decide whether a change in the MSH6 gene causes disease or not. It will mean better counselling for patients and families, allow better assessments of the risk of cancer, and help with selecting the most relevant treatment, including immune therapy,” says Thomas van Overeem Hansen.

The method can be extended later to include other genes, and thus strengthen more personal cancer treatment.