MC1R Variant Independently Linked With Melanoma

Source: Cancer Network, April 2016

People who are carriers of two variants of melanocortin-1 receptor (MC1R), a gene that regulates pigmentation, were at increased risk for melanoma regardless of previous UV radiation exposure, according to the results of a study published in JAMA Dermatology.

Researcher Judith Wendt, MD, PhD, of Medical University of Vienna, Austria, and colleagues, wrote that these results have global relevance “due to the frequency of these variants among the high-risk population.”

In an editorial that accompanied this study, Elisabeth M. Roider, MD, and David E. Fisher, MD, PhD, of Massachusetts General Hospital, wrote: “Overall, this carefully performed study indicates that individuals carrying MC1R variants display a UV-independent significant intrinsic risk, highlighting a need to better understand how MC1R variants, pheomelanin, and ROS affect melanoma development and how to protect these individuals at elevated risk.”

The case-control study included genetic testing, questionnaires and physical data from 1,791 participants; 991 had melanoma and 800 were control patients