Scientists have discovered a gene that is strongly implicated in hereditary pancreatic cancer and say it ultimately might serve as a target for screening and early diagnosis of a malignancy that long has been diagnosed in a late and untreatable stage.
Dr. Teri Brentnall, an associate professor of gastroenterology at the University of Washington in Seattle, announced the discovery Tuesday during a news briefing in New York, saying the discovery marks one of the biggest advances in pancreatic cancer.
With the gene now in hand, scientists have a marker that can be spotted in blood tests. Brentnall has used such a test in her Seattle studies. By testing for the cancer, she said, doctors can mount an assault on the cancer before it starts.
The gene, which has been dubbed "palladin," was unmasked with the help of an 18-member family, nine of whom have died of pancreatic cancer over a period of four generations. The remaining nine members have shown signs of the disease.
"The way we were able to find this gene was to develop a surveillance program," said Brentnall, the lead investigator of the study, referring to a highly sophisticated research protocol in which scientists create a precise technique for spotting the gene in blood tests.
A 21-year-old family member has tested positive for the palladin gene and has chosen to have his pancreas removed, Brentnall said. The preemptive strike is to avoid the fate of his father, who died of pancreatic cancer at 33.
Hereditary pancreatic cancers account for 10% to 20% of the total number of cases diagnosed annually.
Brentnall said it took a decade to hunt down palladin and to understand its role.
"Palladin was discovered about five years ago, and not in the context of cancer," Brentnall said of a serendipitous discovery in which scientists zeroed in on the chromosomal neighborhood where palladin resides. It was not until a few months ago that she and her team found the gene's precise address. She and her team document their work in the current issue of a Public Library of Science journal.
The gene produces a protein that leads to a key part of a cell's structure -- its skeleton.
"A normal cell has a normal skeleton," Brentnall said. "But you know that something is wrong in pancreatic cancer because palladin is very abnormal. Not only does it look bizarre, it allows cells to move 50% faster -- and that's a feature of cancer when a cell can migrate rapidly and move to places it doesn't belong."
Robert Vizza, president of the Lustgarten Foundation for Pancreatic Cancer Research, called the announcement a major advance. "We're very enthused and excited," Vizza said.