This study gets us closer to the ability to identify women with a 10% lifetime risk of ovarian cancer, which is the generally accepted target for clinical intervention to lower risk.
—Thomas A. Sellers, PhD, MPH
Researchers from Moffitt Cancer Center in Tampa, Florida have participated in a global effort that has identified six new regions of the genome that increase risk of epithelial ovarian cancer, according to a news release from Moffitt. The collaborative study was published recently in Nature Genetics.1 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.
Combined Analysis of Study Participants
The first group of women in the study included those 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 women with ovarian cancer who did not have a BRCA mutation and women who were cancer-free but involved in the Ovarian Cancer Association Consortium of 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.
Identifying Women at Risk of Ovarian Cancer
Thomas A. Sellers, PhD, MPH, Center Director at Moffitt, explained, “This study gets us closer to the ability to identify women with a 10% 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 Dr. Sellers, Catherine M. Phelan, PhD, MD, MMS, Jenny Permuth-Wey, PhD, Alvaro N.A. Monteiro, PhD, Y. Ann Chen, PhD, Hui-Yi Lin, PhD, and Zhihua Chen. Georgia Chenevix-Trench, MD, is the corresponding author. For a complete list of authors, visit Nature.com.
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%. ■
1. Kuchenbaecker KB, Ramus SJ, Tyrer J, et al: Identification of six new susceptibility loci for invasive epithelial ovarian cancer. Nat Gen. January 12, 2015 (early release online).