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Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci

Amber A DeVries1, Joe Dennis2, Jonathan P Tyrer3

  • 1Center for Bioinformatics and Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA, USA.

Journal of the National Cancer Institute
|October 10, 2022
PubMed
Summary

Copy number variants (CNVs) are associated with epithelial ovarian cancer (EOC) risk, particularly at BRCA1, RAD51C, and BRCA2 genes. These findings suggest CNVs contribute to EOC heritability and may impact genetic testing and prevention strategies.

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