Dawn McIlvried, MS, CGS, St.Vincent Cancer Care Genetic Counselor
In a study published online in Nature Genetics in early August, researchers heralded an important new discovery: a mutation in a gene called RAD51D, which is associated with an increased risk for ovarian cancer in a small set of women with a family history of this type of cancer.
Scientists have long known that mutations in the genes known as BRCA1 and BRCA2 indicate a heightened risk for breast and ovarian cancer. But for women who lack these mutations, yet still have a family history of ovarian cancer, the search for a genetic explanation has yielded few answers, until now. At this point in time, there has not been a confirmed link between RAD51D gene mutations and breast cancer, although further research is needed, according to the study.
Ovarian cancer is one of the least common forms of cancers among women, yet also one of the most deadly. This is partly because there is no reliable screening tool for the disease, and partly because its symptoms are so subtle it is often detected at an advanced stage.
Although the RAD51D discovery won’t make an immediate impact on ovarian cancer’s survival rates, St.Vincent Cancer Care genetic counselor Dawn McIlvried said it may eventually help aid early detection or even prevent the disease in a small set of women by clarifying who might be at risk for developing this cancer – just as BRCA1 and BRCA2 do now.
“When we see women with BRCA1 or BRCA2 mutations, we know they are at a 15 to 45 percent risk for developing ovarian cancer in their lifetime,” she said. “Now, we’re on a path to finding out what might cause it in women who don’t carry those particular mutations but still have a striking family history.”
According to McIlvried, RAD51D carriers have about a 10% risk of developing ovarian cancer in their lifetime. That’s because RAD51D has an important role “in the repair of damaged DNA, which ultimately helps prevent against uncontrolled cell division. What these researchers have found is a subset of women with personal/family history of ovarian cancer carry a mutation in this gene that causes it to malfunction, and may explain their predisposition to ovarian cancer”
“Right now, its still just research,” McIlvried noted. “It’s not the whole story, but it’s a very important part of it.”
St.Vincent Cancer Care gynecologic oncologist Michael Callahan, MD, agreed, adding that the RAD51D research could prove to be a critical milestone in the fight against ovarian cancer.
“When discoveries like this occur, it can lead to both preventative and therapeutic opportunities,” Callahan said. “In addition to advances in screening, doctors may eventually be able to exploit the mutation with targeted therapies.
“It’s very exciting, because it may bring us a step closer to intervening and preventing ovarian cancer in women before it occurs.”