Researchers claim to have identified the gene responsible for a rare type of ovarian cancer that most often affects girls and young women.
The researchers say that the findings show a 'genetic superhighway' mutation in a gene found in a large number of patients with small cell carcinoma of the ovary, the hypercalcemic type, also known as SCCOHT.
The scientists reveal that this type of cancer is mostly diagnosed at an advanced stage and does not respond to standard chemotherapy. Sixty five percent of patients die within 2 years. Ovarian cancer is the fifth leading cause of cancer deaths among American women and has affected girls as young as 14 months, and women as old as 58 years - with a mean age of only 24. In this study, the youngest patient was 9 years old, reports the Science Daily .
Dr Jeffrey Trent, President and Research Director of Translational Genomics Research Institute (TGen) and the study's senior author, said that this breakthrough for this relatively rare cancer might have wider implications for further research into more common diseases.
The researchers found that SMARCA4 gene that was previously associated with lung, brain and pancreatic cancers was the only recurrently mutated gene in the samples acquired for the study. This means that the implications of this discovery may be extensive.
"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," Dr. Bert Vogelstein, Director of the Ludwig Center at Johns Hopkins University said, reports the Science Daily. He was not a part of the study
he study was inspired by the memory of Taryn Ritchey, a 22-year-old TGen patient who succumbed to ovarian 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," said Taryn's mother Judy Jost of Cave Creek, Ariz. "My daughter never gave up, and neither has TGen."
The study has been published online in the journal 'Nature Genetics'.
