Gene Mutation Discovered in Aggressive Form of Pancreatic Cancer

Researchers at the University of California, San Diego School of Medicine have discovered a mutated gene common to the first known unique molecular signature of pancreatic cancer.

As the fourth leading cause of cancer-related death in the United States, with roughly 45,220 new cases diagnosed  and over 38,400 deaths annually, this rare type of cancer is infrequent but more common among pancreatic cancer. 

"There has been little progress in understanding pancreatic ASC since these aggressive tumors were first described more than a century ago," said co-senior author Miles F. Wilkinson, PhD, professor in the Department of Reproductive Medicine and a member of the UC San Diego Institute for Genomic Medicine, via a press release. "One problem has been identifying mutations unique to this class of tumors."

The study authors note that adenosquamous carcinoma tumors have somatic or non-heritable mutations in the UPF1 gene that's involved in highly conserved RNA degradation pathway known as nonsense-mediated RNA decay or NMD. This is also an example of genetic alerations in an NMD gene through human tumors. 

NMD carries two major roles--to control cells to elimnate faulty messenger RNA molecules that transcribe genetic information and to degrade a group of normal mRNAsthat promote cell growth and survival. Loss of NMD in these tumors may "release the brakes on these molecules, and thereby driving tumor growth and spread," Wilkinson concluded, via the release.

More information regarding the findings can be seen via the journal Nature Medicine.