Ride Donations Enable Surprising Discovery About Ovarian Cancer

Ovarian cancer is often called the silent killer because of its nebulous, evasive symptoms. Too often it’s not discovered until advanced stages. According to the American Cancer Society, the average five-year survival rate for women with ovarian cancer is 45%. It is the eighth most common cause of death from cancer and the most fatal gynecological disease.

What the Roswell Park Comprehensive Cancer Center team learned is that familial ovarian cancer risk is greater on the father’s side of the family than on the mother’s because of a gene on the X chromosome called MAGEC3. Men have only one X chromosome. So if the one they inherit from their mother has a mutated MAGEC3 gene on it, they’ll definitely pass that mutated gene on to any daughters they have.

The team — led by Kevin Eng, PhD, Associate Professor of Oncology, and Kunle Odunsi, MD, PhD, FRCOG, FACOG, Chair of the Department of Gynecologic Oncology — was able to make this discovery thanks to a registry of information and blood samples that has been growing for more than 37 years at Roswell Park.

What They Discovered

The Familial Ovarian Cancer Registry began collecting family information and lifestyle data from families with a history of ovarian cancer in 1981. More than 50,000 people from more than 2,600 families have contributed. It is made possible not only by financial donations but also by qualified families who share their experience with the disease.

When researchers began examining registry data on families whose information included both grandmothers and granddaughters, they found that for women with a paternal grandmother who’d had ovarian cancer, there was a 28% rate of disease occurrence, but only a 13.9% rate when it was the maternal grandmother. This highly suggests that the X chromosome was involved. Further deep sequencing of the X chromosome of registry members uncovered a previously unknown mutation in the MAGEC3 gene.

Women who have this mutated gene may also have earlier onset of the disease. And it also appears that the mutation may cause cancer in men in these families — especially prostate cancer.

Donors are also to thank for the study that arose from this data analysis. The project was one of 12 chosen for a grant from the Scientific Advisory Committee (SAC) in March 2017. SAC meets twice a year to review funding applications from Roswell Park researchers. They select those that show the most promise of making a difference in the fight against cancer. It distributes about $1.5 million during each round of submissions. 100 percent of these funds come from donations to the institution.

Dr. Eng is already getting calls from fathers concerned about what this means for their daughters. “Those are the kinds of questions we need to figure out how to answer next,” he says.

“While it’s important, it’s early days yet,” says Dr. Odunsi. “It needs to be validated in a larger population of patients from ovarian cancer families. And if the findings hold true, this actually will be very significant because of the potential to develop vaccines against this mutation and eventually thereby prevent ovarian cancer from developing in the first place in people who show the genetic mutation.”