Scientists uncover gene variation linked to melanoma

A gene mutation found exclusively in deadly skin cancers caused by exposure to ultraviolet radiation has been identified by scientists, a discovery that could eventually lead to new drugs to treat the disease.

Scientists at the Queensland Institute of Medical Research (QIMR) and Yale University have conducted the world’s largest study of skin cancer genetics.

Professor Nick Hayward from the QIMR’s Oncogenomics Laboratory said the study analysed every gene in 147 melanomas and discovered the same mutation was present in almost 10 per cent of them.

Melanoma accounts for the vast majority of skin cancer deaths. The main cause of melanoma is excessive exposure to ultraviolet (UV) radiation from the sun.

“Because it is a mutation that is an accelerator of tumour growth and development, it lends itself very well to drug targeting to come up with new therapies to treat this disease,” Prof Hayward said, adding the discovery reaffirms the link between sun exposure and skin cancer.

He said it should speed up new treatments to target the mutant gene.

“Potentially within a relatively short time span — maybe only three to five years,” he said.

Cancer survivor Jo Scott from Melanoma Patients Australia said it is an exciting discovery.

“The identification of specific gene mutations in terms of how they drive melanoma, and the targeted therapies that can then be developed for that approach, that’s phenomenal,” she said.

“It’s very, very encouraging for anybody that’s had a melanoma diagnosis.

“The research is published in the journal Nature Genetics .”

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