17 July 2023
More than 20 years ago, Tanya Bisseling, Gastroenterology and Liver Diseases doctor at Radboud university medical center, discovered her own disease: hereditary diffuse gastric cancer (HDGC) syndrome, a rare genetic disorder caused by mutations in the CDH1 gene. This week she is running the 4 Days for her research, with which she wants to prevent the stomach from having to be removed preventively in carriers of the CDH1 mutation.
Four years after Bisseling’s father died of stomach cancer, her sister also had the same aggressive form of stomach cancer. She read several medical publications and found an article describing the heredity of this type of stomach cancer in New Zealand’s Maori for the first time. She suspected that the same hereditary condition also ran in her family.
Bisseling: ‘Research confirmed my suspicions. First of all, it turned out that I also have stomach cancer. It later turned out that my deceased father, my now deceased sister, another sister and myself were indeed carriers of the rare mutation in CDH1–gen.’
Increased risk of diffuse gastric cancer
People with a mutation in the CDH1 gene have a 40 to 60 percent risk of diffuse gastric cancer. The diagnosis and treatment of hereditary diffuse gastric cancer is difficult, compared to other forms of gastric cancer. This is because the cancer can originate in several places in the stomach at the same time and can spread in all places where the gastric mucosa is located, including up to the esophagus.
Preventive gastric removal
A month after her diagnosis, Bisseling underwent a gastric bypass, a procedure that is often used preventively 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.’
Fundraiser for alternative treatment
Given the consequences of a gastric bypass, patients want to know for sure whether gastric bypass is the only option, or whether regular checkups are a safe alternative, even if only for a certain period of time. Bisseling therefore wants to investigate whether regular checkups of CDH1 patients are a safe alternative. ‘Who knows, we may be able to prevent, or at least postpone, this impactful gastric removal in some patients.’
This week she is running the 4Daagse to raise money for research into the CDH1 gene (Team Strong together for CDH1).
Study of mutations of gastric tumors
Tanya Bisseling conducts research together with Radboud university medical center pathologist Chella van der Post. They want to map the mutations of stomach tumors on the basis of 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 steps of the development of stomach cancer and unravel what exactly happens.
Van der Post recently wrote an article in the scientific journal Lancet Oncology. She emphasizes the importance of research into this type of hereditary gastric cancer. ‘Undergoing a gastric bypass at a young age is a major event. With our research we want to provide insight into whether we can postpone or even prevent this operation. Regular checks may be an alternative, but more research is needed for that.’
2023-07-19 00:02:16
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