Copy number variants are ovarian cancer risk alleles at known and novel risk loci

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Abstract

Background: Known risk alleles for epithelial ovarian cancer (EOC) account for approximately 40% of the heritability for EOC. Copy number variants (CNVs) have not been investigated as EOC risk alleles in a large population cohort. Methods: Single nucleotide polymorphism array data from 13071 EOC cases and 17306 controls of White European ancestry were used to identify CNVs associated with EOC risk using a rare admixture maximum likelihood test for gene burden and a by-probe ratio test. We performed enrichment analysis of CNVs at known EOC risk loci and functional biofeatures in ovarian cancer-related cell types. Results: We identified statistically significant risk associations with CNVs at known EOC risk genes; BRCA1 (PEOC = 1.60E-21; OREOC = 8.24), RAD51C (Phigh-grade serous ovarian cancer [HGSOC] = 5.5E-4; odds ratio [OR]HGSOC = 5.74 del), and BRCA2 (PHGSOC = 7.0E-4; ORHGSOC = 3.31 deletion). Four suggestive associations (P

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Devries, A. A., Dennis, J., Tyrer, J. P., Peng, P. C., Coetzee, S. G., Reyes, A. L., … Jones, M. R. (2022). Copy number variants are ovarian cancer risk alleles at known and novel risk loci. Journal of the National Cancer Institute, 114(11), 1533–1544. https://doi.org/10.1093/jnci/djac160

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