Thanks to research by Radboudumc, a new technique for analyzing DNA can be used to demonstrate that a group of patients does have a hereditary form of colon cancer. Until now, this could not be demonstrated with a conventional DNA analysis. For the patients concerned, it means that making the correct diagnosis improves treatment and monitoring of patients. In addition, by means of this DNA analysis it is now also possible to test their family members specifically whether they have an increased risk for this form of cancer.
Lynch like syndrome
When colon cancer is diagnosed, it often concerns Lynch syndrome, which is caused by abnormalities in four genes in the DNA. Deviations that can be demonstrated with common analysis techniques. “However, we do not find those DNA abnormalities in a small group of patients, even though they are young and have relatives with the same form of cancer. So these patients seem to have Lynch syndrome, but we could not make the diagnosis. We call this Lynch-like syndrome,” says research leader Richarda de Voer of the Department of Genetics at Radboud university medical center.
Years of waiting for colon cancer diagnosis
For the purpose of the study, for 32 patients with Lynch-like syndrome, the new
DNA analysis technique applied. It is the first time that this technique, which analyzes DNA much more precisely, has been used to detect rare hereditary cancer.
“We are using this to study long pieces of DNA, whereas in the past we could only measure small fragments,” De Voer continues. “’In this way we can map parts of the DNA that we were not able to look at before. With this technique we found new abnormalities in two of the four genes involved in Lynch syndrome in six patients. Some patients have been waiting eighteen years for a diagnosis, which we can now give them. They have Lynch syndrome.”
Improved patient care
With the accurate diagnosis of Lynch syndrome, it is now possible to ensure that the care for these patients can be significantly improved. It means that after this diagnosis they can be helped with specific treatments that are very effective in this form of cancer, such as immunotherapy.
In addition, patients with Lynch syndrome also have an increased risk of other forms of cancer. In women, this mainly concerns uterine cancer. De Voer: “Because we now know what the patient has, we check them much more often and in a more targeted way.”
For doctors, this means that they can better inform relatives of the patient about possible risks and test for these new DNA abnormalities. Uncertainty regarding these kinds of diseases does a lot to people. Developments can remove much of this uncertainty and unnecessary checks can also be prevented or it can be examined whether it is useful to carry out more frequent checks when there is talk of an increased risk. De Voer foresees a broader applicability of this new DNA analysis, which would make it possible to detect many more unexplained hereditary cancers at an early stage.
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