Mutations that cause increased uveal melanoma risk are found in genes determining eye colour
Researchers have found five mutations in human DNA linked to a higher risk of uveal melanoma, three of which are in the genes that determine a person’s eye colour.
The results, published in the journal Scientific Reports, back up clinical data that suggests that uveal melanoma is more common in Caucasians and individuals with light eye colouration.
However, before patients with blue eyes worried, Ohio State University cancer geneticist, Dr Mohamed Abdel-Rahman, told OT that the recently discovered eye colour mutations were “low risk,” as opposed to high-risk mutations.
These high-risk versions, such as the breast cancer susceptibility genes, more commonly known as BRCA genes, increased a person’s risk of cancer to a much higher degree.
He added: “I don’t think screening with eye colour is very useful … But it could help us understand how it interacts with other genetic and environmental risk factors.”
However, screening a person’s DNA for such mutations could identify patients at risk, he highlighted.
The five new mutations were found when Dr Abdel-Rahman and his team analysed the DNA of 270 patients treated with uveal melanoma at the university’s cancer centre, looking at 29 genes that are linked to skin melanoma.
Dr Abdel-Rahman explained that the next step would be to undertake a national or international analysis of uveal melanoma patients to find alternative genetic risk factors.
“Our study suggests that, in eye melanoma, the pigmentation difference may play a direct cancer-driving role, not related to sunlight protection,” he highlighted.
Image credit: Karen Rowe