Posted on March 31, 2014
Scientists have identified a rare inherited mutation in a gene that can increase the risk of familial melanoma, according to a study that appeared online in Nature Genetics on March 30, 2014. Although the finding does not offer immediate benefit to patients, variation in the Protection of Telomeres-1 (POT1) gene provides additional clues as to the origins of melanoma and may open new avenues in prevention and treatment research.
Reference: Shi J, Yang XR, Ballew B, Rotunno M, et al. Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma. Nat Genet 2014; 46:482-486