Using powerful “next-generation” sequencing technology, researchers in Canada have sequenced the entire genome of a rare and often untreatable form of ovarian cancer (granulosa cell tumors) from four individuals and shown that the tumors share a single base change in the gene FOXL2. This gene encodes a transcription factor known to be critical for granulosa cell development. The research team further validated its work by examining a large number of additional tumor samples from across Canada and around the world, and the team is satisfied it has been able to validate that this mutation is present in almost all granulosa cell tumors and not in unrelated cancers. Most types of cancers, including most ovarian cancers, have a broad range of genetic abnormalities. The current finding shows that granulosa cell tumors have a characteristic single DNA spelling mistake that can serve as an easy-to-read identity tag for this cancer type. "This is really a two-fold discovery," said Dr. David Hunstman, senior author of the research report. "It clearly shows the power of the new generation of DNA sequencing technologies to impact clinical medicine, and for those of us in the area of ovarian cancer research and care, by identifying the singular mutation that causes granulosa cell tumours, we can now more easily identify them and develop news ways to treat them." For this effort, the research team used next-generation sequencing machines that are able to decode billions of nucleotides at rapid speed, together with new computer techniques to quickly assemble the data. "This task would have been unfathomable in terms of both cost and complexity even two years ago," said Dr. Marco Marra, also an author of the report. This work was published in the June 11 issue of the New England Journal of Medicine.
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