New research shows gene fault adds to melanoma risk

An international research project co-funded by Cancer Council Queensland has identified a gene mutation that puts people at an extremely high risk of developing melanoma.

The research team, including scientists from QIMR Berghofer Medical Research Institute, found mutations in the POT1 gene caused a hereditary form of melanoma.

Cancer Council Queensland spokesperson Kim Ryan said the study would help identify, screen and monitor people who are more susceptible to the disease.

“This discovery will allow people in the high risk category for melanoma to hopefully prevent their chances of getting the disease by being extra vigilant about their health and sun safety,” Ms Ryan said.

“We know that many families have a high incidence of melanoma and this gene gives us a better understanding of why.

“Identifying the faulty gene will give people a better chance of preventing, detecting and hopefully treating the disease – with scientists highlighting the gene as a potential drug target.

“In future, this early detection may mean better treatment options.”

Scientists have previously identified the genetic mutations responsible for about 40 per cent of all familial cases of melanoma.

This finding accounts for a further 3 per cent of cases, where the mutations inactivate the POT1 gene which would otherwise protect the ends of our chromosomes from damage.

Queensland has the highest rates of skin cancer in the world. Around 133,000 non-melanoma and 3000 melanoma skin cancers are diagnosed across the state each year.

Sun protection is required when the UV Index is 3 and above. In Queensland, the UV Index is 3 and above all year round, so Cancer Council Queensland encourages sun protection through every season.

Queenslanders should Slip on protective clothing, Slop on SPF 30 or above broad-spectrum, water-resistant sunscreen, Slap on a broad-brimmed hat, Seek shade and Slide on wrap-around sunnies.

The research was published online on Monday, March 31 in Nature Genetics.

More information about Cancer Council Queensland is available at or Cancer Council Helpline 13 11 20.

For more information, please contact:

Kim Ryan, Senior Media Advisor, Cancer Council Queensland

P.(07) 3634 5239

M. 0488 015 702