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【bio-news】胰腺癌的致病基因

最后编辑于 2022-10-09 · IP 天津天津
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这个帖子发布于 18 年零 200 天前,其中的信息可能已发生改变或有所发展。
http://sciencenow.sciencemag.org/cgi/content/full/2006/1212/2
A Genetic Culprit for Pancreatic Cancer
By Kelli Whitlock Burton
ScienceNOW Daily News
12 December 2006

It was a tragic family tradition passed down through four generations: Nine relatives died from pancreatic cancer, and nine others developed precancerous lesions. Now, scientists say the discovery of a genetic mutation that appears to set these cancers in motion could bring that tradition to an end. The mutated gene identified in this one family, the first gene ever implicated in pancreatic cancer, is also likely involved in other heritable and nonheritable forms of the cancer, according to the researchers.
Pancreatic cancer kills about 30,000 people in the U.S. each year, and in about 10 percent of those cases, heredity plays a factor. Diagnosis usually comes after the disease has spread, and most patient die within a year. About 10 years ago, gastroenterologist Teri Brentnall at the University of Washington in Seattle began following Family X, as she calls them, hoping to learn more about the cancer's genetic underpinnings in order to diagnose it earlier. After extensive genetic analysis, Brentnall and colleagues report today in the journal Public Library of Science Medicine that the culprit behind Family X's string of cancers is a mutation in a gene called paladin.

"Palladin is a big molecule that's part of a complex important for cell structure and mobility," says study co-author David Whitcomb, a pathologist at the University of Pittsburgh in Pennsylvania. The mutation affects a key junction joining the palladin protein to other molecules in the complex. This appears to destabilize the structure that holds the cell rigid, he says, leaving the mutated cell free to metastasize.

Every family member with the paladin mutation developed pancreatic cancer or precancerous lesions. What's more, the scientists found the mutation in sporadic pancreatic cancer patients as well.

"It's clear that this gene deserves further study, as it's possible that it may cause other cancers as well," says Mike Goggins, a gastroenterologist with Johns Hopkins Medical Institutions in Baltimore, Maryland. Still, he adds, it's too soon to say just what role paladin plays in the disease in other families plagued with pancreatic cancer or in noninherited cases: "We don't know if this is relevant to other pancreatic cancer families and if it is, how often."












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