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. Read the full NCI Benchmarks blog post about this study.
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