Eye Color Genes Linked to Uveal Melanoma Risk

Scientists from the Ohio State University (The James) Comprehensive Cancer Center and Perlmutter Cancer Center of NYU School of Medicine have found an association between genes linked to eye color and development of uveal melanoma. The study connects inherited genetics alterations to an increased risk for this cancer type that arises from pigment cells that determine eye color. The findings were first published in Scientific Reports.

This rare cancer of the eye, specifically the iris, ciliary body, and choroid, is diagnosed in approximately 2,500 patients in the United States each year and appears to affect people who have light eye color and fair skin, people who tan, and people who are older, around 70 and up, according to the National Cancer Institute. 

“This is a very important discovery that will guide future research efforts to explore the interactions of these pigmentary genes with other genetic and environmental risk factors in cancers not linked to sun exposure, such as eye melanoma,” said study co-author ophthalmologic pathologist and cancer geneticist Mohamed Abdel-Rahman, MD, PhD, of OSU Comprehensive Cancer Center, in a news release. “This could provide a paradigm shift in the field. Our study suggests that in eye melanoma the pigmentation difference may play a direct cancer-driving role, not related to sunlight protection.”

Due to the absence of comprehensive genetic data from patients as the large sample sizes for this rare cancer type the progress on understanding the genetic factors that lead to this cancer type, little progress has been made in this field, according to the researchers, but they hope to change that by first analyzing samples from approximately 270 patients with uveal melanoma.

To move this research forward, large research consortiums to conduct comprehensive, systematic analysis of inherited (germline) genome data in large cohorts of uveal melanoma patients, are necessary and the researchers hope to see this come to fruition.