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Researchers from the University of Queensland and The Alfred hospital in Melbourne have identified gene variants which may contribute to people being at higher risk for nodular melanoma.

from UQ鈥檚 said nodular melanoma only accounts for around 14% of invasive melanoma cases, but the aggressive subtype is the largest contributor to melanoma deaths.

鈥淢elanoma is highly curable by surgery when diagnosed early, but nodular melanoma is often detected later because of its rapid growth rate and short window of opportunity for detection and diagnosis,鈥� Stark said.

鈥淯p to 27% of nodular melanoma cases appear as a skin-coloured tumour, as opposed to other more pigmented melanomas, adding an additional challenge to early diagnosis.

鈥淲e hope that by identifying these rare variants, it could help establish screening programs to determine the people most at risk.鈥�

The research project analysed 500 genes already associated with melanoma and cancer risk.

鈥淲e identified 39 genes that had the greatest frequency of DNA variants in nodular melanoma compared to other melanoma subtypes,鈥� Stark said.

鈥淥f those, four genes with rare DNA variants had the greatest frequency in nodular melanoma patients.鈥�

Associate Professor Victoria Mar, Director of the Victorian Melanoma Service at The Alfred, said the information would enable clinicians to more effectively identify individuals at high risk of nodular melanoma, for targeted screening.

鈥淲e previously did not have a common genetic risk factor specific to the disease,鈥� Mar said.

鈥淕enetic testing can help us identify who might be at greater risk of developing nodular melanoma.

鈥淥nce we know someone has these gene variants, it鈥檚 then possible to offer education and more appropriate screening to hopefully catch it earlier and improve patient outcomes.鈥�

The research was based at the Translational Research Institute and supported by funding from the National Health and Medical Research Council, the Queensland Government and The Alfred Foundation.

The research is published in the .

Image credit: iStock.com/Anastasiia Stiahailo

Originally published