Journal
NATURE GENETICS
Volume 41, Issue 9, Pages 996-U60Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.424
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Funding
- Cancer Research UK [A10119, A6187, 10124, 11021, 10118, A10124, 10119, 11022, A8339] Funding Source: Medline
- Medical Research Council [G0000934, G0801875] Funding Source: Medline
- NCI NIH HHS [R01 CA122443, R01-CA-122443, R01 CA054419, R01 CA087538-05, N01-CN-55424, R01 CA122443-02, K07 CA092044, N01PC35137, R01 CA058860, R01 CA058598, R01 CA87538, P50 CA105009-05, N01-PC-35137, CA16056, R01 CA087538, P30 CA016056, CA-58860, U01 CA058860, R01 CA112523-04, P50 CA105009, R01 CA61107, K07 CA092044-04, CA71766, R01 CA114343-03, CA-92044, R01 CA058598-10, R01 CA054419-15, R01 CA058860-14, R01-CA- 58598, P30 CA016056-33, R01 CA112523, P50 CA136393, R01 CA114343, N01 PC035137, R01CA114343] Funding Source: Medline
- Department of Health Funding Source: Medline
- MRC [G0000934, G0801875] Funding Source: UKRI
- The Francis Crick Institute [10119, 10124] Funding Source: researchfish
- DIVISION OF CANCER PREVENTION AND CONTROL [N01CN055424] Funding Source: NIH RePORTER
- NATIONAL CANCER INSTITUTE [R01CA058598, R01CA061107, P50CA105009, U01CA058860, R01CA087538, K07CA092044, R01CA058860, R01CA114343, P50CA136393, P30CA016056, R01CA112523, R01CA122443, ZIACP010126, R01CA054419] Funding Source: NIH RePORTER
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Epithelial ovarian cancer has a major heritable component, but the known susceptibility genes explain less than half the excess familial risk(1). We performed a genome-wide association study (GWAS) to identify common ovarian cancer susceptibility alleles. We evaluated 507,094 SNPs genotyped in 1,817 cases and 2,353 controls from the UK and similar to 2 million imputed SNPs. We genotyped the 22,790 top ranked SNPs in 4,274 cases and 4,809 controls of European ancestry from Europe, USA and Australia. We identified 12 SNPs at 9p22 associated with disease risk (P < 10(-8)). The most significant SNP (rs3814113; P = 2.5 x 10(-17)) was genotyped in a further 2,670 ovarian cancer cases and 4,668 controls, confirming its association (combined data odds ratio (OR) - 0.82, 95% confidence interval (CI) 0.79-0.86, P-trend = 5.1 x 10(-19)). The association differs by histological subtype, being strongest for serous ovarian cancers (OR 0.77, 95% CI 0.73-0.81, Ptrend 4.1 x 10(-21)).
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