More than 20 years ago, Tanya Bisling, a gastroenterologist and hepatologist at Radboud University Medical Center, discovered her disease: hereditary metastatic gastric cancer syndrome (HDGC), a rare genetic disorder caused by mutations in the CDH1 gene. This week she is doing 4 days of her research, during which she wants to prevent having to remove the stomach prophylactically in CDH1 mutation carriers.
Four years after Bisling’s father died of stomach cancer, it was also revealed that her sister had an equally aggressive form of stomach cancer. I read several medical publications and found an article describing the inheritance of this form of stomach cancer in New Zealand Maori for the first time. She suspected that the same genetic condition also ran in her family.
Bisling: ‘Research confirmed my suspicions. First of all, it turned out that I had stomach cancer. It turned out that my deceased father, my now deceased sister, my other sister and I were indeed carriers of the rare CDH1 mutation.–The general.
Increased risk of metastatic stomach cancer
People who have a mutation in the CDH1 gene have a 40 to 60 percent increased risk of developing metastatic stomach cancer. Diagnosing and treating hereditary metastatic stomach cancer is challenging compared to other forms of stomach cancer. This is because cancer can originate in several places in the stomach at the same time and can spread to all the places where the stomach mucosa is present, including even the esophagus.
A month after her diagnosis, Bisling underwent gastric bypass, a procedure often used preventively with CDH1 mutation carriers. A major operation, sometimes with lasting consequences. People must 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 therapy
Given the consequences of gastric bypass, patients want to know for sure if gastric bypass is the only option, or if regular check-ups are a safe alternative, even for a certain period of time. So Bisling wants to investigate whether regular screenings for CDH1 patients are a safe alternative. “Who knows, we might be able to prevent, or at least delay, the impactful gastric removal in some patients.”
This week she’s running 4Daagse to raise money for research into the CDH1 gene (Strong team together for CDH1).
Mutational study of gastric tumors
Tanya Bisling is conducting research with Radboud University Medical Center pathologist Sheila van der Post. They want to map the mutations of stomach tumors based on DNA research. They study tissues from different stages of stomach cancer. In miniature organs called organelles, they then test whether these mutations affect the aggressive behavior of cancer cells. These organelles can mimic the different steps of stomach cancer progression and reveal exactly what is happening.
Van der Post recently wrote an article in the scientific journal The Lancet Oncology. And stresses the importance of research in this type of hereditary stomach cancer. Undergoing gastric bypass surgery at a young age is a major event. Through our research we want to provide insight into whether we can delay or even prevent this process. Regular checkups may be an alternative, but more research is needed for this.
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