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DCEG Scientists Identify New Gene Mutation Related to Familial Melanoma

Posted on March 31, 2014

Chromosomes with irregular teleomeres in a person with melanoma who carried the POT1 mutation. Image generated by quantitative Fluorescent in situ hybridization (FISH)

Chromosomes with irregular teleomeres in a person with melanoma who carried the POT1 mutation. Image generated by quantitative fluorescent in situ hybridization (FISH).

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

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