Same Genes Influencing Eye Color Also Associated with Risk for Uveal Melanoma; Data Suggests Pigmentation Differences May Play Direct, Cancer-Driving Role Unrelated to Sunlight Protection

New research links specific inherited genetic differences (alterations) to an increased risk for eye (uveal) melanoma, a rare form of melanoma that arises from pigment cells that determine eye color. Approximately 2,500 people are diagnosed with uveal melanoma in the Unted States annually. Previous clinical data suggests uveal melanoma is more common in Caucasians and individuals with light eye coloration; however, the genetic mechanisms underlying this cancer's development were largely unknown. In this new study -- co-authored by ophthalmologic pathologist and cancer geneticist Mohamed Abdel-Rahman, M.D., PhD, of The Ohio State University Comprehensive Cancer Center - Arthur G. James Cancer Hospital and Richard J. Solove Research Institute; and cancer geneticist Tomas Kirchhoff, Ph.D., of the Perlmutter Cancer Center of NYU School of Medicine - scientists report the first evidence of a strong association between genes linked to eye color and development of uveal melanoma.Reported data suggests that inherited genetic factors associated with eye and skin pigmentation could increase a person's risk for uveal melanoma. Dr. Abdel-Rahman, Dr. Kirchhoff, and team reported their findings online on August 8, 2016 in the medical journal Scientific Reports. The open-access article is titled “Genetic Markers of Pigmentation Are Novel Risk Loci for Uveal Melanoma.”"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.” “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," says Dr. Abdel-Rahman.
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