Ovarian cancer causes more deaths each year than any other gynecologic cancer in the U.S.
Recent discoveries from Cedars-Sinai Cancer help improve the understanding of what drives the development of ovarian cancer and why some women’s tumors do not respond to therapy.
The first study identified four new regions of the human genome that harbor genetic variants or mutations that put women at an increased risk of developing epithelial ovarian cancer, the most common type of ovarian cancer.
The researchers look at deletions and duplications in 13,000 women with ovarian cancer and compared them to 17,000 women without ovarian cancer to identify copy number variants that were associated with ovarian cancer risk.
They found significant deletions and duplications in the BRCA1 gene, BRCA2 gene, and RAD51C gene, all of which are known to harbor changes in a patient’s DNA sequence that increase the risk for ovarian cancer.
Researchers also found four new genes that have not been previously linked to an increased risk for ovarian cancer.
The study, which is the largest to date to evaluate the contribution of copy number variants to ovarian cancer risk, will likely lead to more accurate genetic testing for women.
The second study gives investigators a deeper understanding as to how ovarian tumors develop resistance to chemotherapy, which occurs in about 80% of high-grade serous ovarian cancer patients and ultimately leads to their succumbing to the disease.
Using whole genome sequencing, they found for the first time that this is not the case.
Instead, it seems more likely that most high-grade serous ovarian tumors have the capacity to survive chemotherapy from a very early stage.
The team says that previously it was thought that we could probably find a way to treat chemo-resistant tumors with other drugs after they have been treated with the standard therapy, but this study suggests that may not be the best approach.
As researchers at Cedars-Sinai Cancer explore how to more accurately identify women who carry cancer-causing mutations, clinicians are simultaneously working to monitor, and rapidly treat as needed, BRCA-positive patients.
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The study was conducted by Simon Gayther et al and published in the Journal of the National Cancer Institute and the Journal of Experimental & Clinical Cancer Research.
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