Culprit Behind Ovarian Cancer Has Been Identified


The genetic source of an extremely rare and deadly form of ovarian cancer has been discovered. Mutation in the SMARCA4 gene was found to be tightly associated with patients with an ovarian cancer called small cell carcinoma of the ovary, hypercalcemic type. The research was conducted by the Translational Genomics Research Institute in Phoenix, Arizona.

They came across these findings by genetically sequencing tumors from people with the hypercalcemic type of ovarian cancer. The discovery showed a strong link between mutation and protein loss of the SMARCA4 gene and the number of patients with this specific ovarian cancer. 75% of the patients exhibited mutation in the chromatin-remodeling SMARCA4 gene and 82% had protein loss in the gene. 

These findings are so remarkable because scientists now know that there is a definitive correlation, and they can conduct future research based off of this discovery. The president and research director of TGen states: ‘The correlation between mutations in SMARCA4 and the development of SCCOHT is simply unmistakable.” This ovarian cancer might be extremely rare but it is just as deadly. Nearly two thirds of patients with the disease never survive for more than 2 years after they are diagnosed. Chemotherapy also elicits no positive results. In addition to helping scientists come up with a treatment for this ovarian cancer, these findings could potentially overlap to other cancers such as lung, brain, and pancreatic cancer. 

Source: Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4. Nature Genetics (2014)doi:10.1038/ng.2928. Received 31 December 2013 Accepted 28 February 2014. Published online 23 March 2014.


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