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Unravelling the melanoma mystery

An international study, led by the Queensland Institute of Medical Research (QIMR), has discovered two genetic variants that increase the risk of melanoma.

The variants were discovered through a study examining the DNA of over 2,000 Australians with melanoma and over 4,000 people without the condition.

Melanoma is also one of the most common cancers affecting young people in Australia, with Queensland showing the highest incidence of the disease worldwide.

Lead QIMR researcher, Dr Stuart MacGregor, said that finding these two genetic variants will help increase the ability to predict those individuals most at risk of developing the potentially deadly disease.

“This new finding is exciting as early diagnosis is critical in melanoma to improve the outcome of people who develop the disease,” Dr MacGregor said.

“Identifying these variants is an essential step toward determining accurate risk estimates for the disease.

“This in turn, means people will be better informed and can take the right precautions to avoid developing this increasingly common cancer.

“Unlike virtually all melanoma risk variants found to date, the two new genetic variants do not appear to act by simply changing skin pigmentation or mole count. One variant appears to play a role in how DNA is repaired following damage by UV radiation, while the other variant may play a role in tumour formation.”

Dr MacGregor said this study built on QIMR’s previous work on identifying melanoma associated genes.

“Discovering more about the genetic basis of melanoma may help us to better diagnose and treat melanoma in the future,” Dr Macgregor said.

“While we have identified further genetic links to melanoma, prevention is still our best defence.

“It is still important for people to take precautions such as sunscreen, wearing a hat, sunglasses and a long-sleeved shirt when in the sun, even during cooler months, because the risk of melanoma is high all year round.”

Melanoma is the least common type of skin cancer, but it is the most life threatening. In 2007, there were 10,342 new cases of melanoma, making it overall the fourth most common cancer in Australia (Department of Health and Ageing, Australian Government).

To carry out this study, QIMR collaborated with the Melanoma Institute of Australia; University of Melbourne; Brigham and Women’s Hospital, Boston; the M.D. Anderson Cancer Center, Houston; and the International Melanoma Genetics Consortium, GenoMEL.

The results of this study will be published in Nature Genetics on Monday 10 October and can be downloaded at

Suncorp has been supporting skin cancer research at QIMR and educating Australians about the importance of sun protection through its skin cancer awareness program, SunWise since 2004.

For further information about the SunWise program visit