Scientists find first ever 'gene fusion' in ovarian cancer

In collaboration with the Press Association

In a world's first, US researchers have found a particular gene fault - called a gene fusion - is present in a significant proportion of difficult-to-treat ovarian cancers.

The discovery by Stanford University researchers could eventually help with the earlier detection of this type of cancer, called high grade serous ovarian cancer (HGSOC), and lead to new ways to treat the disease.

Scientists studying HGSOCs found that a gene known as ESRRA was fused to the nearby C11orf20 gene in nearly one in six (15 per cent) of samples studied.

Serous ovarian cancer, the most common form of the disease, is particularly hard to treat as it is normally only identified at a late stage of the illness.

If further research shows that the protein made as a result of the gene fusion circulates in the blood, it may be possible to detect it in the early stages of the cancer, when treatment is more likely to be effective. Also, if the protein is found to contribute to cancer progression, it could be a target for future therapies.

Patrick O. Brown, senior author of the study published in PLoS Biology, said: "Although this is the first time that a rearrangement of neighbouring 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 realised."

"More study will reveal if this gene fusion contributes to the tumour's aggressive growth and spread," he continued.

The researchers, identified the very specific genetic change by using 'deep sequencing' techniques.

The relatively new technology combines tools from genetics, statistics and computer science and was used during research at Stanford University School of Medicine.

Simon Gayther, a Cancer Research UK ovarian cancer expert, said: "The problem we've had in the past is that these types of tumour usually have a disordered mess of genetic changes. This makes finding individual changes that drive the disease extremely difficult. So this discovery of the first ever gene fusion in ovarian cancer is exciting on several levels.

"Firstly, it raises the possibility that several similar genetic faults in ovarian cancers could be uncovered using a similar approach. Secondly, and perhaps more significantly, this could represent a new, tumour-specific therapeutic target for ovarian cancer, similar to treatment for some breast cancers using Herceptin, which targets the HER2 protein. But further work will need to be done to evaluate this.

"Finally, more broadly speaking, this finding represents a shift in what's possible in the field of cancer genetics, driven by more advanced DNA sequencing technologies, which could bring more benefits to patients in years to come."

Copyright Press Association 2011