NOV 02, 2022 8:32 AM PDT

New Genetic Variants Identified as Risk Factors for Ovarian Cancer

WRITTEN BY: Zoe Michaud

Ovarian cancer is a complex disease resulting from mutated cells in the ovaries. As the cells multiply, they can invade and destroy other tissues in the body. Multiple risk factors increase a person’s chance of developing ovarian cancer, including inherited genes. 

The lifetime risk for developing ovarian cancer is about 1.4%. For individuals with a BRCA1 mutation, the risk increases to 44%, and the risk increases to 17% for individuals with a BRCA2 mutation. The BRCA1 and BRCA2 genes are the strongest known risk factor for developing ovarian cancer and have been studied extensively as a result. 

Copy number variants (CNVs), which include genetic deletions and duplications, have been relatively understudied. They are typically studied through whole genome sequencing, which is comparatively expensive and technically challenging. 

A new study published by the Journal of the National Cancer Institute uses genotyping data from over 13,000 ovarian cancer cases to identify copy number variants associated with an increased risk of ovarian cancer. This genotyping data is taken from across the genome, providing a robust look at the overall genetic risk associated with ovarian cancer. 

Along with the known BRCA1 and BRCA2 risk factors, the study identified four regions of the human genome that can contain mutations that increase the risk of developing ovarian cancer. 

Simon Gayther, Ph.D., senior author of the study, says that “understanding the relationship between molecular profiles and clinical presentation of ovarian cancer not only can help guide the development of personalized therapeutic approaches but can also help us identify women who are at the highest risk so we can intervene before the cancer even develops.”

This data could lead to more accurate genetic testing for women and their doctors to assess the risk of developing ovarian cancer and screen for the disease. 

Sources: Cancer Epidemiology, Biomarkers & Prevention, Journal of the National Cancer Institute


About the Author
Bachelor's (BA/BS/Other)
Zoe (she/her) is a science writer and a scientist working in genomics. She received her B.S. from the University of Connecticut with a focus in Evolutionary Biology. At Labroots, she focuses on writing scientific content related to clinical research and diagnostics.
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