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Cause of rare cancer discovered at UConn

Frances Morales

Issue date: 11/12/03 Section: News
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Researchers at UConn Health Center have discovered the cause of a rare form of cancer developed in the parathyroid gland.
In an article published in the New England Journal of Medicine, researchers performed several studies observing 15 patients who suffered from problems with their parathyroid glands, in hopes of finding a link between the gene HRPT2.
Further investigation is necessary for researchers to conclude if the cancer is associated with a genetic defect, thus inheritable.
For the past decade, genetical researchers at the Center of Molecular Medicine had no success within any genetical candidates, until now. They had not been able to find the genetic candidate to match up with the mutation Dr. Andrew Arnold, the director of the center, said.
"Up to this point nothing was known about the cause for this rare form of cancer," Arnold said. "This turned out to be a jackpot."
The recent discovery may assist researchers in identifying the cancer if the families of parathyroid cancer patients may be in danger of inheriting the cancer.
"The important part of this discovery is that we found that certain patients even those of no inheritance, had indeed inherited and could likely pass onto their children," Arnold said.
Many researchers had known that the "root cause of cancer are mutations of genes and when there are mutations in the cells it thus develops into a tumor," Arnold said.
Genetical researchers found that people with parathyroid carcinomas, genes in which are highly activated or sporadic, frequently have HRPT2 mutations.
"[With] the DNA sequence found in large majority, we can demonstrate mutations within the gene, making those mutations the cause of the tumor," Arnold said.
The study found that 10 of the 15 patients were found to have with HRPT2 mutations.
Patients involved in the study were those who had no known family history of hyperparathyroidism (sporadic activity of cells in the parathyroid gland).
Parathyroid problems occur when the glands are highly activate, thus producing too much parathyroid hormone (PTH).
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