Genome Res. doi:10.1101/gr.103697.109 (2010)

Some cancer-associated genetic changes are not easily detected with standard technologies. Researchers have now found mutations linked to melanoma using RNA sequencing.

Levi Garraway of the Dana-Farber Cancer Institute in Boston, Massachusetts, and his colleagues used a high-speed sequencing technology to sequence RNA from ten patients' melanoma samples. They identified 11 abnormal RNAs resulting from genes that had fused in the genome — the first reported gene fusions for melanoma. They also found 12 instances in which two separate genes were transcribed, or 'read', together to produce a mutated RNA, seven of which occurred in more than one sample. In addition, the researchers confirmed previous findings that melanoma has a higher mutation rate than other cancers, reflecting DNA damage caused by exposure to ultraviolet light.