Melanoma gene discovery may improve diagnosis and treatment

Genome-wide association studies have been delivering some solid results of late, the most recent being two studies published today in Nature Genetics revealing four new genes and one genome region associated with melanoma.

Once the roles of the associated genes are understood it might shed further light on melanoma and how it develops.

One study was conducted by the international GenoMEL Consortium, and the other by an international team of researchers led by the Queensland Institute of Medical Research (QIMR).

The QIMR study involved 2168 individuals with melanoma and 4387 controls, and confirmed existing known melanoma-associated loci. It also identified another susceptibility locus on chromosome 1, and another region spanning 10 genes that also appears to contribute to melanoma risk.

Interestingly, the genes revealed in both studies are not related to skin pigmentation or nevus (i.e. mole) count and density.

“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,” said lead QIMR researcher, Dr Stuart MacGregor.

“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.”

The studies also raise the prospect of improved diagnostics as well as identifying individuals who are at risk so they can take action to minimise the possibility of developing melanoma.

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

“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.”