A team led by researchers at the National Institutes of Health is the first to systematically survey the landscape of the melanoma genome, the DNA code of the deadliest form of skin cancer. The researchers have made surprising new discoveries using whole-exome sequencing, an approach that decodes the 1-2 percent of the genome that contains protein-coding genes. The study appears in the April 15, 2011, early online issue of Nature Genetics. Melanoma is the most serious form of skin cancer and its incidence is increasing more quickly than that of any other cancer. A major cause is thought to be overexposure to the sun, particularly ultraviolet radiation, which can damage DNA and lead to cancer-causing genetic changes within skin cells. "It is now clear that genomic analysis will have a major impact on our ability to diagnose and treat cancer," said National Human Genome Research Institute Director Dr. Eric D. Green, who was not involved in the study. "This study represents a collaboration of basic science, clinical research, genome sequencing, and data analysis at its best." The researchers conducted a comprehensive genome analysis and explored the melanoma genome's functional components, especially gene alterations, or mutations. They studied advanced disease — the metastatic stage — when cells have the highest accumulation of gene mutations. "Melanoma is one of the most challenging solid cancers to work with because it has such a high rate of mutation," said senior author Dr. Yardena Samuels, investigator in the Cancer Genetics Branch of the NHGRI's Division of Intramural Research.
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