1st recurrent gene fusion in ovarian cancer identified

Researchers at the Stanford University School of Medicine have for the first time identified a recurrent gene fusion in ovarian cancer — a discovery that could lead to earlier diagnoses and future therapies.

The researchers discovered that, in a substantial fraction of ovarian tumors, a gene closely related to the estrogen receptor is broken and fused to an adjacent gene by a chromosome rearrangement.

The finding is important because it could shed light on how these deadly tumors develop and spread.

Senior author Patrick O. Brown and his colleagues found the gene fusion while searching through a vast pile of data from “deep sequencing” of the genes active in ovarian tumors.

“Although this is the first time that a rearrangement of neighboring genes has been found to occur repeatedly in a cancer, we suspect that these local rearrangements may be more common and important that we had realized,” said Brown.

The Stanford team identified a recurrent gene fusion between ESRRA, a gene related to the estrogen receptor, and a nearby gene called C11orf20, in about 15 percent of serous ovarian cancer cases tested.

This very specific genetic change might provide a marker for detection of some cancers at a curable stage.

The fact that ovarian tumors in many patients share the same genetic change suggests it may be important for the way they behave.

“More study will reveal if this gene fusion contributes to the tumor’s aggressive growth and spread,” said Brown.

The study appears in the September 20 online issue of the journal PLoS Biology.

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