Is it time for dermatologists to learn genomics?


Friday, 12 May, 2017


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Researchers at the University of Queensland (UQ) have reviewed the key genes affecting pigmentation, in what could be the first step towards using genomics to identify patients genetically predisposed to skin cancer.

The research team included Associate Professor Rick Sturm, from UQ’s Dermatology Research Centre, who said the future of clinical practice will be directed towards personal or precision medicine.

“This will require clinicians to understand their patients’ genetic background, so we really needed a primer for the dermatologists on the genes they should know about,” he said.

Published in the journal Dermatology, the review gives an overview of 15 genes which affect pigmentation of the skin, eyes and hair or melanoma risk. As explained by Dr Sturm, “These include the most important genes for pigment which, when they are mutated, have a manifestation of genetic disease.

“Dermatologists might already have some knowledge of the gene associated with red hair and freckling, which is MC1R, but there are many others.”

Dr Sturm said there are now three major genes associated with naevi or moles.

“One of these genes — IRF4 — has a big effect on naevi count, and recently it’s been suggested the gene can have a significant effect on the type of melanoma a patient may get,” he said.

“This gene usually affects a patient’s presentation in the clinic — they have lots of moles as children and not so many as adults, and they get their melanoma later in life.

“In the future, clinicians will have to know the genes affecting their patients’ pigmentation and naevi presentation, and that will affect how they examine or treat them.”

Dr Sturm noted that there has been “rapid progress” in recent years in our knowledge of the genetics underlying skin cancer and pigmentation, but little means of keeping dermatologists updated.

“Our review is a stepping stone to incorporating genomics into the clinic to identify the patients that need management and surveillance,” he said.

Image credit: ©stock.adobe.com/au/Damian Gretka

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