Dermatologists may need to look further than red hair and freckles when identifying patients who might be genetically predisposed to skin cancer.
A University of Queensland review of the key genes affecting pigmentation could be the first step towards incorporating genomics into clinical practice to identify high-risk patients.
Associate Professor Rick Sturm, from UQ’s Dermatology Research Centre, said the review was prompted by the need to provide the latest information to clinicians.
“The whole idea of how we will deliver medicine in the future is directed towards personal or precision medicine,” Dr Sturm said.
“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.”
The review gives an overview of 15 genes which affect pigmentation of the skin, eyes and hair or melanoma risk.
“These include the most important genes for pigment which, when they are mutated, have a manifestation of genetic disease,” Dr Sturm said.
“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 were 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.
