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Study identifies five new melanoma risk regions

An international study led by a QIMR Berghofer Medical Research Institute scientist and researchers from the Melanoma Genetics Consortium (GenoMEL) has discovered five new gene regions which increase a person’s risk of melanoma.

Dr Matthew Law from QIMR Berghofer’s Statistical Genetics laboratory said the research takes the total number of known melanoma gene risk regions to 20.

“Along with finding the five new regions, we have been able to confirm two others previously suggested to be risk factors,” Dr Law said.

The 12 000 plus melanoma samples used for the project was four times greater than the previous largest genome wide association study (GWAS) to identify variations associated with melanoma.

They included samples from most Australian states, as well as the United Kingdom, United States and Europe.

Melanoma is the most serious form of skin cancer and can grow quickly if left untreated, but can be effectively treated if detected early.

Dr Law said most of the major gene risk regions previously identified are associated with pigmentation, or the number of moles a person has.

“The five new gene regions we’ve discovered are from different pathways, so we have made another step towards unravelling the melanoma puzzle.”

Dr Law said identifying new pathways presents potential new drug targets.

“We know one of the new regions identified is known to be related to the length of telomeres, the caps at the end of each strand of DNA that protect our chromosomes from damage.”

The international collaborators are now preparing for an even larger study which is expected to find more risk regions.

“At the same time we need to start working out how these genetic variations work, in the hope that we will find a gene that is a drug target which will improve treatment for patients.”

The research has been published in the prestigious journal Nature Genetics:

The QIMR Berghofer research was funded by the NHMRC, the Cancer Councils of Queensland, New South Wales, Victoria and Western Australia, the European Commission, Cancer UK, the Wellcome Trust, and the NIH/NCI.

Dr Law said people should remember the most effective way to prevent melanoma is to practice sun safety at all times, especially for children, and to see a doctor if you notice any new spots or changes to your freckles and moles.