Dermatology, Meet Genomics

Ask any dermatologist, and they’ll tell you that excessive sun exposure can eventually lead to skin cancer. Dermatologists are aware of the factors that can result in skin diseases and cancer, but there hasn’t been much movement in researching the genetics that prompt skin pigmentation and cancer. At the University of Queensland, associate professor Rick Sturm, MD, is attempting to change that.

According to the study from University’s Dermatology Research Centre, there are several genes that participate to the “regulation and distribution” of melanin pigmentation and enzymes that interact with the melanocyte cell located in the skin, hair, and eyes.

“The single nucleotide polymorphisms and extended haplotypes within or surrounding these genes have been identified as risk factors for skin cancer, in particular, melanoma,” the researchers write.

Certain polymorphisms have provoked lighter pigmentation in Europeans for the last 5,000 to 20,000 years. The researchers have identified 15 genes that impact pigmentation in the eyes, skin, hair, and are associated with melanoma. “These include the most important genes for pigment which, when they are mutated, have a manifestation of genetic disease,” Strum said. IRF4 is one of these genes, which impacts naevi count, and scientists have recently pointed out its influence on the kind of melanoma is might aggravate. According to Strum, patients with IRF4 usually have moles as children that go away in adulthood, later on they develop melanoma.

“There has been such rapid progress in our knowledge on the genetics underlying skin cancer and pigmentation,” said Strum. “But there’s been little means of keeping dermatologists updated.”