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Melanoma Exome Exposed

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In what they're calling the "most comprehensive view of melanoma's genetic landscape," researchers at the National Human Genome Research Institute and elsewhere say they have sequenced several metastatic melanoma exomes, according to an agency press release. The researchers say they've made "surprising" new discoveries which they detail in a study published in Nature Genetics. Among the discoveries, the team identified 68 genetic changes that appear to be somatically mutated at elevated frequency, and found 16 genes which they deemed to be melanoma driver mutations — of the 16, only BRAF had previously been implicated in melanoma, NIH's press release says. "The ionotropic glutamate receptor gene, GRIN2A, was the most highly mutated of the genes newly implicated in melanoma. It contained mutations in 33 percent of an NCI sample set and in 25 percent of a larger set of samples that combined those maintained by NCI and two other collections. The researchers suggest that this gene is important because of its role in the signaling pathway," NIH adds. The researchers also suggest that the TRRAP gene is also a driver of melanoma and likely an oncogene, one of the study's most important findings.

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