Georgetown researchers identify unique gene mutation causes cancer

2011-08-20 11:09

Georgetown University scientists have identified a unique gene mutation that leads to cancer. Researchers know that cancer occurs when cells have too many or too few chromosomes, but they haven't understood what triggers uneven numbers of chromosomes.

In the finding, published in the August 19th issue of Science, the researchers report they've identified missing or mutated STAG2 gene, which encodes part of an essential protein that regulates chromosomes in several types of cancer. The new discovery may mean new hope for eradicating some types of cancer.

Twenty percent of glioblastoma multiforme, malignant melanoma and Ewing's sarcoma examined by the researchers had either a missing or mutated STAG2 gene, which means during cell division an uneven number of chromosomes are likely to appear in offspring, or “daughter” cells.

Todd Waldman, M.D., Ph.D., an associate professor at Georgetown Lombardi said, "In the cancers we studied, mutations in STAG2 appear to be a first step in the transformation of a normal cell into a cancer cell. We are now looking at whether STAG2 might be mutated in breast, colon, lung, and other common human cancers."

New cancer treatments possible

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Study lead author, David Solomon, Ph.D., a student in the M.D. Ph.D. program at Georgetown University School of Medicine says, "We are now attempting to identify a drug that specifically kills cancer cells with STAG2 mutations. Such a drug would be of clinical benefit to the many patients whose tumors have inactivation of STAG2."

Solomon says he had a “eureka" moment during the study when he found mutations of STAG2 in a few brain cancer cells.


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