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Gene Mutation Found in One of Four Cases of Deadly Brain Cancers
Date:12/22/2010

WEDNESDAY, Dec. 22 (HealthDay News) -- A gene mutation that is present in one of every four patients with glioblastoma brain cancer has been identified by researchers.

The mutation -- a gene deletion known as NFKBIA -- contributes to tumor development, promotes resistance to treatment and significantly worsens the chances of survival of patients with glioblastoma, the most common and deadly type of adult brain cancer, senior author Dr. Griffith Harsh, a professor of neurosurgery at the Stanford University School of Medicine, said in a Stanford news release.

For this study, researchers analyzed several hundred tumor samples collected from glioblastoma patients and found NFKBIA deletions in 25 percent of the samples.

The study, which appears online Dec. 22 in the New England Journal of Medicine, is the first to link the NFKBIA deletion with glioblastoma.

Previous research has found that defects in NFKBIA -- normally present on chromosome 14 -- are linked with a wide range of cancers, including melanoma, multiple myeloma, Hodgkin's lymphoma, and breast, lung and colon cancers.

It was already known that a genetic defect in the coding for epidermal growth factor receptor (EGFR), a cell-surface receptor for a hormone known as epidermal growth factor, plays a role in about one-third of glioblastoma cases. In these cases, there are either too many copies of EGFR or its receptor is stuck in the "on" position, so it sends out messages for cells to multiply continuously. This can spark the development of tumors.

Patients with NFKBIA or EGFR abnormalities have significantly shorter survival times than glioblastoma patients with tumors that have neither defect, the researchers noted.

The discovery may aid the development of targeted therapies. "If we can determine that a patient's glioblastoma has the NFKBIA deletion, we can target that tumor for treatment" with drugs that take the gene deletion into
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