More than 20 years ago, Tanya Bisseling, Doctor of Gastroenterology and Liver Diseases at Radboud University Medical Center, discovered her own disease: Hereditary Diffuse Gastric Cancer Syndrome (HDGC), a rare genetic disease caused by mutations in the gene CDH1. She is hosting this week the 4 Days of her research, with which she wants to avoid having to remove the stomach as a preventive measure in carriers of the CDH1 mutation.
Four years after Bisseling’s father died of stomach cancer, his sister also had the same aggressive form of stomach cancer. She read several medical publications and for the first time found an article describing the inheritance of this type of stomach cancer among New Zealand Maori. She suspected that the same hereditary condition also ran in her family.
Bisseling: “Research has confirmed my suspicions. First, it turned out that I also had stomach cancer. It turned out later that my deceased father, my now deceased sister, another sister and I were indeed carriers of the rare CDH1 mutation.–embarrassed.’
Increased risk of diffuse gastric cancer
People with a CDH1 gene mutation have a 40-60% risk of diffuse gastric cancer. Diagnosis and treatment of hereditary diffuse gastric cancer is difficult compared to other forms of gastric cancer. Indeed, the cancer can come from several places of the stomach at the same time and can spread to all the places where the gastric mucosa is, including up to the esophagus.
Preventive gastric sampling
A month after his diagnosis, Bisseling underwent gastric bypass surgery, a procedure often used as a preventive measure in carriers of the CDH1 mutation. A major operation, sometimes with lasting consequences. “People have to adjust their diet for the rest of their lives and take vitamin supplements to replenish nutrients. Complaints such as extreme weight loss, fainting or even epileptic seizures can also occur.
Fundraising for alternative treatments
Given the consequences of gastric bypass surgery, patients want to know for sure if gastric bypass surgery is the only option, or if regular checkups are a safe alternative, even if only for a certain period of time. Bisseling therefore wants to investigate whether regular check-ups of CDH1 patients are a safe alternative. “Who knows, we may be able to prevent, or at least postpone, this hard-hitting gastric ablation in some patients.”
This week she is leading the 4Daagse to raise funds for research on the CDH1 gene (Team Strong together for CDH1).
Study of mutations in gastric tumors
Tanya Bisseling is conducting research with Radboud University Medical Center pathologist Chella van der Post. They want to map mutations in stomach tumors based on DNA research. They study tissue from different stages of stomach cancer. In mini-organs called organoids, they then test whether these mutations influence the aggressive behavior of tumor cells. In these organoids, they can mimic the different stages of stomach cancer development and unravel what exactly is going on.
Van der Post recently wrote an article in the scientific journal Lancet Oncology. She emphasizes the importance of research on this type of hereditary gastric cancer. “Having gastric bypass surgery at a young age is a major event. Through our research, we want to provide insight into the possibility of postponing or even preventing this operation. Regular checks may be an alternative, but further research is needed for this.
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