Friday, March 01, 2002

Scientists Zero in on Pancreatic Cancer Gene
Fri Mar 1, 1:44 PM ET
By Amy Norton

NEW YORK (Reuters Health) - US researchers have identified the chromosome region in which the gene behind inherited pancreatic cancer lurks--a finding they say is a big step in combating one of the most deadly cancers.


The investigators have narrowed the gene search to a region on chromosome 4, an area that contains about 100 genes that could be the culprit they are looking for. They estimate that it will take another year to find the gene itself.

"The haystack is a lot smaller now," study co-author Dr. David C. Whitcomb, of the University of Pittsburgh in Pennsylvania, told Reuters Health.

Whitcomb and his colleagues in Pittsburgh and at the University of Washington in Seattle zeroed in on the gene's neighborhood by studying a family affected by autosomal dominant pancreatic cancer. This form of the disease--which accounts for about 10% of pancreatic cancers--arises from a genetic mutation passed from generation to generation.

Finding the gene should allow family members to be screened for gene mutations and then followed closely to detect the cancer early. It should also give researchers insight into the "biology" of pancreatic cancer and spur treatment advances, according to Whitcomb.

Right now, most people diagnosed with pancreatic cancer will die within a year of detection, largely because the disease is rarely caught before it has spread. The organ is located deep within the abdomen, and early pancreatic cancer often produces no clear symptoms.

The family in this study--known as family X to researchers--is unusual in that so many members have developed pancreatic cancer, often by the time they were in their 40s. This gave the investigators a relatively large pool of DNA samples to analyze, and they were able to detect a specific genetic marker on chromosome 4 that was carried by affected family members but not unaffected ones.

The researchers report their findings in the early electronic edition of the April issue of the American Journal of Human Genetics.

"This family," said Whitcomb, "allowed us to pinpoint where a very strong cancer gene is hiding."

And although family members have an inherited form of pancreatic cancer, Whitcomb and his colleagues believe their findings will advance the understanding--and perhaps screening and treatment--of pancreatic cancer in general.

For example, if the gene researchers eventually identify is commonly mutated in all forms of pancreatic cancer, testing for the flaw could aid in early detection.

"We're trying to find ways of detecting (the cancer) before it has spread," Whitcomb said.

SOURCE: American Journal of Human Genetics 2002;70.

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