Research Identifies Gene Associated with Ovarian Cancer Risk


A team of scientists has identified the specific genes that aggravate or delay the onset of high-grade serious ovarian carcinoma. The findings will help to identify women at risk of developing ovarian cancer besides paving the way for finding new therapies targeting the specific genes.

The study that was conducted by a team of scientists from the Cornell University College of Veterinary Medicine was published Sept. 1 in Cell Reports. High-grade serious ovarian carcinoma (HGSOC) was the fifth-leading cause of cancer-related deaths in women in the United States. Yet, little was known about the origins of this disease. The study’s senior author, John Schimenti, professor of genetics in the Department of Biomedical Sciences, stated: 

“We’ve taken the enormous collection of genomic mutation data that’s been mined on cancer genetics and tried to make functional sense of it.”

Genes That Are Known To Mutate

To pinpoint the genes, the research team analyzed patient data to try to find genetic variants in the DNA blueprint that explain the patient disease status. The researchers wanted to test combinations of possible genetic suspects, and then parse out which of the many associated mutations were sparking cancer.

The team collaborated with the Cancer Genome Atlas, an international collaborative database that compiles the genetic information from patient tumour samples and the mutated genes associated with them. They sampled a list of 20 genes that are known to mutate in HGSOC and, using CRISPR gene-editing technology, they were able to create random combinations of these mutations in cultured cells from the ovary surface, including normal epithelial cells and epithelial stem cells, to see which cell type was more susceptible to the mutations.

Apt To Become Cancerous

The researchers then noted which combination of mutations turned which group of cells cancerous — pinpointing both the genes driving the process and which cell type cancer originated in. The study revealed what the team had initially suspected — that ovarian surface stem cells were more apt to become cancerous when hit with mutations. They also unexpectedly discovered genes that had the opposite effect. Schimenti said:

“We found there were various genes that would help the process along, but interestingly, there were other genes that, when mutated, actually inhibited the cancer initiation process.”

Unique Medical History

The current study builds on previous research of large-scale genetic data gathered over more than a decade by the Ovarian Cancer Association Consortium. Those researchers compared the genetic profiles of about 25,000 women with ovarian cancer and 45,000 women without the disease. The investigators found more than 30 regions in the genome that are associated with ovarian cancer. During the earlier study, Alexander Gusev, PhD, assistant professor of medical oncology at Dana-Farber, said:

“If you detect ovarian cancer early, then the survival rate is very high, nearly 90 per cent. But that doesn’t happen often. Most cases are found at a later stage, and survival drops dramatically. That’s why we want to understand the genetics behind it—so we can do a better job at predicting who is at a higher risk of developing this cancer.”

Every woman has a unique medical history. Therefore, it is essential to talk with your doctor about your risk factors and/or experience with ovarian cancer. By talking openly and regularly with your doctor, you can take an active role in your care. If you are not able to meet your doctor physically, make use of Solve. Care’s Global Telehealth Exchange to consult via videoconferencing.