Distinct Genomic Anomalies IDed in Melanoma Subtypes

Source: Genomeweb, May 2017

NEW YORK (GenomeWeb) – A new study has delved more deeply than ever into the coding and non-coding alterations that occur in various forms of melanoma — including those do not seem to be attributable to mutations caused by sun exposure.

Researchers from Australia, Spain, and the US did whole-genome sequencing on tumor samples from nearly 200 individuals with melanoma subtypes affecting mucosal tissues, the hands or feet (called acral melanoma), or cutaneous skin sites. The findings, published online today in Nature, expanded the set of mutational signatures identified in ultraviolet light-associated melanomas, while highlighting structural variants and other alterations in melanoma tumors from mucosal and hand or foot sites.

“The heavily mutated landscape of coding and non-coding mutations in cutaneous melanoma resolved novel signatures of mutagenesis attributable to ultraviolet radiation,” corresponding author Graham Mann, a researcher with the University of Sydney’s Melanoma Institute Australia, and his co-authors wrote. “However, acral and mucosal melanomas were dominated by structural changes and mutation signatures of unknown etiology, not previously identified in melanoma.”

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