Washington: Researchers have uncovered the reason behind rare type of ovarian cancer that most often strikes girls and young women.
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.
Dr. Jeffrey Trent, President and Research Director of TGen, and the study’s senior author, 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.
The SMARCA4 gene — previously associated with lung, brain and pancreatic cancer — was the only recurrently mutated gene in the study’s samples. The implications of this discovery, therefore, may be widespread.
The study has been published online in the journal Nature Genetics.