The cause of a rare type of ovarian cancer which most often strikes girls and young women has been uncovered by an international research team.
This type of cancer usually is not diagnosed until its advanced stages, does not respond to standard chemotherapy and 65% of patients die within two years.
The scientific breakthrough, which could lead to new cancer treatments, was led by the Translational Genomics Research Institute (TGen).
“This is a thoroughly remarkable study,” says Dr Jeffrey Trent, President and Research Director of TGen, and the study’s senior author.
“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.”
The results of the study are published today in the scientific journal, Nature Genetics.
The findings reveal a mutation in a gene found in the overwhelming majority of patients with small cell carcinoma of the ovary, hypercalcemic type, also known as SCCOHT.
Dr Trent said 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-year-old TGen patient who in 2007 lost her battle with ovarian cancer, the 5th leading cause of cancer death among American women.
“Taryn would be incredibly excited about this amazing new study, and she would be glad and thankful that other young women like her might now be helped because of TGen’s ongoing research,” said Taryn’s mother Judy Jost of Cave Creek, Ariz. “My daughter never gave up, and neither has TGen.”
Pilar Ramos, a TGen Research Associate, and the study’s lead author, says he has high confidence that the stage is set for clinical trials which could provide patients with immediate benefit.
In a scientific rarity, two other studies with similar results also were to be published today by Nature Genetics, producing immediate validation and reflecting a scientific consensus that usually takes months or even years to accomplish.