Researchers have found the genetic source of a rare type of ovarian cancer that often affects young women.
A research team found a "genetic superhighway" mutation in a gene found in most patients in the study that suffered from small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), a Translational Genomics Research Institute news release reported.
This type of cancer generally doesn't respond to chemotherapy; 65 percent of the patients diagnosed with the cancer die within two years. The mean age of when women are afflicted with the cancer is 24, but it has affected girls as young as 14 months.
"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," Doctor Jeffrey Trent, President and Research Director of TGen, and the study's senior author, said in the news release. "The correlation between mutations in SMARCA4 and the development of SCCOHT is simply unmistakable."
The study was inspired by a 22-year-old TGen patient named Taryn Ritchey, who lost her life to the cancer in 2007.
"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," Taryn's mother Judy Jost of Cave Creek, Ariz., said in the news release. "My daughter never gave up, and neither has TGen."
The SMARCA4 gene has also been linked to lung, brain, and pancreatic cancers.
"The findings in this study represent a landmark in the field. The work identifies SMARCA4 mutations as the culprit, and most future research on this disease will be based on this remarkable discovery," Doctor Bert Vogelstein, Director of the Ludwig Center at Johns Hopkins University, Investigator at the Howard Hughes Medical Institute, and pioneer in the field of cancer genomics, who did not participate in the study, said in the news release.
"The past decade of research has taught us that cancer is a vastly complex disease. Profound patient-to-patient variability has made treatment and diagnosis for many tumor types at times very difficult. In this case, however, we have found a single genetic event driving SCCOHT in nearly every patient," Doctor William Hendricks, a TGen Staff Scientist and another author of the study, said in the news release.
