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Ovarian cancer gene discovery could improve diagnosis

This article was originally published in Clinica

Executive Summary

Scientists have identified a genetic mutation that could cause granulosa cell tumours, a type of ovarian cancer. The disorder can be difficult to diagnose, so the discovery "may improve diagnosis in problematic cases and lead to more targeted therapies", the researchers said. They analysed four tumours using whole-transcriptome RNA sequencing, instead of the more conventional method, sequencing genomic DNA. The transcriptome is the full set of protein-encoding mRNA; sequencing the transcriptome is simpler than sequencing the entire genome. The researchers discovered a single, recurrent mutation in the FOXL2 gene, an early marker of ovarian differentiation that is needed for normal granulosa cell development. The findings appeared online in the New England Journal of Medicine on June 10.

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