Gene Mutation Causes Rare Ovarian Cancer

(March 25, 2014) In what is being hailed as a major discovery, findings published this week indicate that researchers have discovered a gene mutation that causes Small Cell Carcinoma of the Ovary, Hypercalcemic type. OCRF Scientific Advisory Committee member, and former grantee, Douglas A. Levine, MD, is senior author of one of three papers on the topic, which were published  in Nature Genetics.

Small Cell Carcinoma of the Ovary, Hypercalcemic type is rare and aggressive tumor that is highly fatal—more so than the more common serous ovarian cancer—and it tends to affect children and young women.  Around 300 women are diagnosed with this cancer each year, and there “are many examples of women in their late teens or early 20s, dying quickly from this disease,” says Dr. Levine of Memorial Sloan-Kettering Cancer Center, who led the research. “The median age is 23, and they frequently die within two years – it’s devastating. Identifying this potential genetic target could be a major advance because current therapies have very little effect.”

The new research shows that a specific gene, SMARCA4, is universally mutated in this cancer and is the culprit responsible for the disease.  In addition, it appears that there is a hereditary component to this disease. It is very unusual to have such a high mutation rate for any given cancer;  this newly discovered relationship between the SMARCA4 gene and this type of cancer will pave the way for all future research on the disease, including new avenues for treatment.

OCRF will host a special webinar with Dr. Levine to highlight these findings on April 24, 2014 at 6pm. Stay tuned for more information!

Click here, here and here for the abstracts of the papers on this topic.