Discovery of New Gene Mutation That Increases Ovarian Cancer Risk, Passed Down Through Paternal Lineage

(February 22, 2018) Researchers at Roswell Park Comprehensive Cancer Center, including Kunle Odunsi, MD, PhD, senior author of the study and current OCRFA Scientific Advisory Committee member, have discovered a mutation of an unidentified gene that increases both the risk of early onset ovarian cancer and prostate cancer. Using the Familial Ovarian Cancer Registry at Roswell Park, they looked at 892 pairs of x chromosomes between granddaughters and their grandmothers and found that the rate of cancer in granddaughters and their paternal granddaughters was significantly higher than in the pairs of granddaughters and their maternal grandmothers, 28.4% and 13.9% respectively. The ovarian cancer linked to this mutation developed almost seven years earlier than the average age for most ovarian cancer cases.

Although the gene, and its function, have yet to be identified, this study is important because it reveals that ovarian cancer can be inherited through the X-chromosome, and works completely independently of BRCA1/2. Keven Eng, the study’s author, explains that the research, “may explain why we find families with multiple affected daughters: because a dad’s chromosomes determine the sex of his children, all of his daughters have to carry the same X chromosome genes.”