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Genetic Mutation Accounts For 7 In 10 Melanoma Cases

April 7, 2009
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New research from Britain finds that as much as 70 percent of melanoma cases may be spurred by a genetic mutation that causes cells to become cancerous after too much sun exposure. 

The study, released Monday, could lead to improved treatments for melanoma, the most lethal form of skin cancer.  The disease is characterized by the uncontrolled growth of pigment-producing skin cells known as melanocytes.

Scientists at Britain’s Institute of Cancer Research found that the BRAF gene mutation is often the first event in the series of genetic changes that lead to melanoma.

The researchers were already aware that the BRAF gene was often damaged in those with melanoma, but it was not clear whether this was a cause or effect of the disease.

"Our study shows that the genetic damage of BRAF is the first step in skin cancer development," Richard Marais, the study’s lead author, told Reuters.

"Understanding this process will help us develop more effective treatments for the disease," he said.

Scientists hope that better knowledge about the genetics at work in skin cancer will lead to the creation of new, targeted drugs that can repair the flawed genetic system.

Although melanoma accounts for only a tiny percentage of all skin cancers, it is responsible for the majority of skin cancer deaths. Excessive sun exposure is responsible for at least two-thirds of cases, as DNA in sunburned skin cells becomes damaged, leading to genetic mutations.

The British institute published its findings in the journal Cancer Cell.

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