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TGen-led study discovers genetic cause of rare type of ovarian cancer
Date:3/23/2014

PHOENIX, Ariz. March 23, 2014 The cause of a rare type of ovarian cancer that most often strikes girls and young women has been uncovered by an international research team led by the Translational Genomics Research Institute (TGen), according to a study published online today by the renowned scientific journal, Nature Genetics.

By applying its groundbreaking work in genomics, TGen led a study that included Mayo Clinic, Johns Hopkins University, St. Joseph's Hospital and Medical Center; Evergreen Hematology and Oncology, Children's Hospital of Alabama, the Autonomous University of Barcelona, British Columbia Cancer Agency, University of British Columbia, and the University Health Network-Toronto.

The findings revealed a "genetic superhighway" mutation in a gene found in the overwhelming majority of patients with small cell carcinoma of the ovary, hypercalcemic type, also known as SCCOHT.

This type of cancer usually is not diagnosed until it is in its advanced stages. It does not respond to standard chemotherapy, and 65 percent of patients die within 2 years. It has affected girls as young as 14 months, and women as old as 58 years with a mean age of only 24 years old. In this study, the youngest patient was 9 years old.

"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. "The correlation between mutations in SMARCA4 and the development of SCCOHT is simply unmistakable."

Dr. Trent added that while the breakthrough is for a relatively rare cancer, discovering the origins of this type of ovarian cancer could have implications for more common diseases.

Much of the work in this study was inspired by the memory of Taryn Ritchey, a 22-
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Contact: Steve Yozwiak
syozwiak@tgen.org
602-343-8704
The Translational Genomics Research Institute
Source:Eurekalert

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