Two mutated genes associated with ovarian cancer


Researchers have linked two mutated genes to ovarian clear cell carcinoma, according to a study published in Science Express (2010 Sep 8. [Epub ahead of print]).

According to background information provided in the press release announcing the findings, ovarian clear cell carcinoma accounts for about 10% of cancers that start in the cells on the surface of the ovaries. It mainly affects women ages 40 to 80 years and is resistant to chemotherapy.

For the study, scientists at Johns Hopkins Kimmel Cancer Center evaluated mutations in 18,000 protein-encoded genes in ovarian clear cell tumors, purified the cancer cells, and analyzed genes from those cells and from normal cells obtained from the blood or uninvolved tissues from the same patients.

Researchers reported that they found an average of 20 mutated genes per each ovarian clear cell cancer studied. According to the scientists, the two genes that were more commonly mutated among the samples, ARID1A and PPP2R1A, had not previously been linked to ovarian cancer. “They may provide opportunities for developing new biomarkers and therapies that target those genes,” said Nickolas Papadopoulos, PhD, an associate professor of oncology and director of Translational Genetics at the Ludwig Center for Cancer Genetics & Therapeutics at Johns Hopkins. 

The scientists say that mutated ARID1A can now be linked to so-called “epigenetic” changes, alterations to DNA occurring outside of the genome. “The mutations in ARID1A provide an important new link between genetic and epigenetic mechanisms in human cancer and may help identify epigenetic changes which can be targeted with therapies,” said Victor Velculescu, MD, PhD, associate professor of oncology at Johns Hopkins.

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