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

AA Devries; J Dennis; JP Tyrer; PC Peng; SG Coetzee; AL Reyes; JT Plummer; BD Davis; SS Chen; FS Dezem; KKH Aben; H Anton-Culver; NN Antonenkova; MW Beckmann; A Beeghly-Fadiel; A Berchuck; NV Bogdanova; N Bogdanova-Markov; JD Brenton; R Butzow; I Campbell; J Chang-Claude; G Chenevix-Trench; LS Cook; A Defazio; JA Doherty; T Dork; DM Eccles; AH Eliassen; PA Fasching; RT Fortner; GG Giles; EL Goode; MT Goodman; J Gronwald; N Hakansson; MAT Hildebrandt; C Huff; DG Huntsman; A Jensen; S Kar; BY Karlan; EK Khusnutdinova; LA Kiemeney; SK Kjaer; J Kupryjanczyk; M Labrie; D Lambrechts; ND Le; J Lubinski; T May; U Menon; RL Milne; F Modugno; AN Monteiro; KB Moysich; K Odunsi; H Olsson; CL Pearce; T Pejovic; SJ Ramus; E Riboli; MJ Riggan; I Romieu; DP Sandler; JM Schildkraut; VW Setiawan; W Sieh; H Song; R Sutphen; KL Terry; PJ Thompson; L Titus; SS Tworoger; E Van Nieuwenhuysen; DV Edwards; PM Webb; N Wentzensen; AS Whittemore; A Wolk; AH Wu; A Ziogas; ML Freedman; K Lawrenson; PDP Pharoah; DF Easton; SA Gayther; MR Jones

Journal article

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

AA Devries, J Dennis, JP Tyrer, PC Peng, SG Coetzee, AL Reyes, JT Plummer, BD Davis, SS Chen, FS Dezem, KKH Aben, H Anton-Culver, NN Antonenkova, MW Beckmann, A Beeghly-Fadiel, A Berchuck, NV Bogdanova, N Bogdanova-Markov, JD Brenton, R Butzow Show all

Journal of the National Cancer Institute | Published : 2022

DOI: 10.1093/jnci/djac160

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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 ..

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