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Researchers Discover Cause Of a Rare Type Of Ovarian Cancer

Update Date: Mar 24, 2014 09:59 AM EDT

Researchers have uncovered the cause of a very rare type of ovarian cancer that most often strikes girls and young women, according to a new study. 

Researcher discovered a 'genetic superhighway' mutation in a gene found in the significant number of patients with small cell carcinoma of the ovary which is also referred as SCCOHT. 

This type of cancer is not diagnosed in initial stages as it does not respond to standard chemotherapy. Statistics show 65 percent of the patients die within 2 years. The cancer can affect girls as young as 14 months and women as old as 58 years. However the mean age at which the disease usually strikes is just 28 years. 

"This is a thoroughly remarkable study. Many genetic anomalies can be like a one-lane road to cancer; difficult to negotiate. But these findings indicate a genetic superhighway that leads right to this highly aggressive disease," said Dr. Jeffrey Trent, President and Research Director of TGen, and the study's senior author in the press release. "The correlation between mutations in SMARCA4 and the development of SCCOHT is simply unmistakable."

Dr. Trent also added that discovering the origins of such a rare type of cancer could have implications for more common disease. 

"We set out to uncover any small sliver of hope for women afflicted with this rare cancer. What we found instead are the nearly universal underpinnings of SCCOHT," said Pilar Ramos, a TGen Research Associate, and the study's lead author in the press release. "By definitively identifying the relationship between SMARCA4 and SCCOHT, we have high confidence that we have set the stage for clinical trials that could provide patients with immediate benefit."

The study will be published in the journal Nature Genetics

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