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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. 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

Related Links

DCEG research on familial melanoma

Biography of Jianxin Shi, Ph.D.

Biography of Xiaohong Rose Yang, Ph.D., M.P.H.

Biography of Maria Teresa Landi, M.D., Ph.D.