Gene mutation in melanoma

07 February 2013


Writing in the journal Science, German researchers have revealed a previously unknown genetic route to melanoma - the most dangerous form of skin cancer. Around one in ten cases of melanoma is caused by an inherited gene fault, so the researchers started by studying a family where 14 members were affected with the disease.

They discovered that they all carried a gene mutation that causes overproduction of a protein called telomerase, the so-called immortality enzyme that helps protect the ends of chromosomes as cells divide. Then they looked at the telomerase gene in non-hereditary, or sporadic, melanoma and found that nearly three-quarters of the samples they looked at also had faults that increased the production of telomerase. And all these gene faults carried the signature of damage caused by excessive exposure to UV radiation from the sun or sunbeds.

The researchers believe their results prove that faults causing overactive telomerase are a key driver in melanoma. They were also surprised to find it, as the genetic faults in melanoma have been extensively analysed, but somehow this was overlooked. They also hope that their discovery will lead to more effective treatments for the disease, as therapies that block telomerase are already being tested in clinical trials and could be beneficial in melanoma patients.


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