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Researchers identify genetic mutation responsible for some cases of uveal melanoma

Nature. doi:10.1038/nature07586.

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Researchers have identified a genetic mutation that is responsible for almost half of all cases of uveal melanoma.

A mutation of heterotrimeric G protein alpha-subunit, or GNAQ — a gene responsible for regulating growth of melanocytes — turns off inhibitive pathways, leading to unchecked growth of the skin cell. The mutation may be the cause of about 45% of all uveal melanoma, as well as a key factor in blue nevi, a type of benign skin mole, according to the report published online at Nature.

The mutation leads to activation of a signaling pathway that is known to lead to the development of other types of melanoma. Discovery of the specific mutation could mean the identification of a novel therapeutic target, according to lead researcher Catherine Van Raamsdonk, PhD, of the University of British Columbia.

"Prior to our work, the mutations responsible for uveal melanoma were completely unknown," Dr. Van Raamsdonk said in a press release announcing the findings. "No other research looked at mutations in GNAQ. The next step is to develop an effective treatment by targeting the specific biological processes that this mutated gene controls."