Moffitt Cancer Center Instrumental to International Discovery of Genetic Risk Factors for Ovarian Cancer

January 13, 2015

TAMPA, Fla. Moffitt Cancer Center researchers participated in a global effort that identified six new regions of the genome that increase risk of epithelial ovarian cancer. The collaborative study was published Monday in Nature Genetics.

An estimated 22,000 new cases of ovarian cancer are diagnosed each year in the United States.  It is the fifth most common cause of cancer-related death in women, with approximately 14,000 deaths each year and a 5-year survival rate of only 44 percent.

The study is unique in that it includes a combined analysis of two groups of women who had their genetic profiles completed as part of a large international collaboration.  The first group included women with and without ovarian cancer who had inherited a mutation in BRCA1 or BRCA2, which are gene mutations already known to increase risk of ovarian cancer.  The women were recruited to 54 studies in 27 countries. The second group included ovarian cancer cases without BRCA mutations and cancer-free controls who were part of the Ovarian Cancer Association Consortium that included 26 individual studies. 

Altogether, DNA from approximately 69,700 women, including more than 18,400 women with ovarian cancer, was extensively analyzed for genetic changes called single-nucleotide polymorphisms (SNPs).  SNPs found on six different regions on chromosomes 1, 4, 6, 9 and 17 are linked to epithelial ovarian cancer. With this most recent investigation, the number of SNPs that influence ovarian cancer risk has increased to 18.  This information can be used to stratify patients according to their risk of developing cancer and enable primary prevention efforts.

Thomas A. Sellers, Ph.D., M.P.H., center director at Moffitt, explained, “this study gets us closer to the ability to identify women with a 10 percent lifetime risk of ovarian cancer, which is the generally accepted target for clinical intervention to lower risk.  Given that there is no early detection test, most women are diagnosed at late stage and outcomes are less than optimal.  Thus, identification of women at high risk to try and prevent the disease is really appealing and an important goal to pursue.”

A total of seven Moffitt researchers participated in this international study, including Sellers, Catherine M. Phelan, Ph.D., M.D., M.M.S.; Jenny Permuth-Wey, Ph.D.; Alvaro N.A. Monteiro, Ph.D.; Y. Ann Chen, Ph.D.; Hui-Yi Lin, Ph.D.; and Zhihua Chen.

About Moffitt Cancer Center
Located in Tampa, Moffitt is one of only 41 National Cancer Institute-designated Comprehensive Cancer Centers, a distinction that recognizes Moffitt’s excellence in research, its contributions to clinical trials, prevention and cancer control. Moffitt is the top-ranked cancer hospital in the Southeast and has been listed in U.S. News & World Report as one of the “Best Hospitals” for cancer care since 1999. With more than 4,500 employees, Moffitt has an economic impact in Florida of nearly $1.6 billion. For more information, visit, and follow the Moffitt momentum on Facebook, Twitter and YouTube.