Latest study increases known melanoma gene risk regions to 20


According to a recently published study led by a QIMR Berghofer Medical Research Institute scientist, there are more gene regions that dictates a person’s risk of melanoma.

Dr Matthew Law from QIMR Berghofer’s Statistical Genetics laboratory and researchers from the Melanoma Genetics Consortium (GenoMEL) claim through their new study, published in the journal Nature Genetics, that they have identified five new gene regions which increase a person’s risk of melanoma taking the total number of known melanoma gene risk regions to 20.

Dr Law said that their latest research not only brings forward five new regions, they have also been able to confirm two others previously suggested to be risk factors.

Researchers studied over 12,000 melanoma samples to identify variations associated with melanoma. Researchers included samples from a number of countries including Australia, United Kingdom, United States and Europe.

Melanoma, though is the most serious form of skin cancer that grow quickly if left untreated, it 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.”