NCI scientists identify new gene mutation that predisposes families to melanoma

Chromosomes with irregular teleomeres in a person with melanoma who carried the POT1 mutation. Image generated by quantitative Fluorescent in situ hybridization (FISH). NCI scientists and their colleagues have identified a rare inherited mutation in a gene that can increase the risk of familial melanoma, according to a recent study that appeared in Nature Genetics. 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. Melanoma is the most lethal form of skin cancer. In the United States, it is estimated that more than 76,000 new cases of melanoma will be diagnosed in 2014, and about 9,700 Americans will die from the disease. Most cases of melanoma are sporadic—that is, patients do not have a family history of the disease. However, in some families, melanoma develops in multiple individuals across many generations. This latter form is known as familial melanoma. For over 30 years, NCI scientists have been studying familial melanoma and hunting for genes that may play a role in the development of this rarer form of the disease. To date, four susceptibility genes for familial melanoma have been identified: CDKN2A (the most common), CDK4, BAP1, and TERT. However, mutations in these genes account for less than 40 percent of melanoma-prone families. In this recent study, Maria Teresa Landi, M.D....
Source: NCI Benchmarks - Category: Cancer & Oncology Authors: Tags: cancer genetics screening Source Type: news