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A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2

Open access
Australian Cancer (Ovarian) Study, Song, Honglin, The Australian Ovarian Cancer Study Group, The Ovarian Cancer Association Consortium, Ramus, Susan J, Tyrer, Jonathan, Bolton, Kelly L, Gentry-Maharaj, Aleksandra, Wozniak, Eva, Anton-Culver, Hoda, Chang-Claude, Jenny, Cramer, Daniel W, DiCioccio, Richard, Dörk, Thilo, Goode, Ellen L, Goodman, Marc T, Schildkraut, Joellen M, Sellers, Thomas, Baglietto, Laura, Beckmann, Matthias W, Beesley, Jonathan, Blaakaer, Jan, Carney, Michael E, Chanock, Stephen, Chen, Zhihua, Cunningham, Julie M, Dicks, Ed, Doherty, Jennifer A, Dürst, Matthias, Ekici, Arif B, Fenstermacher, David, Fridley, Brooke L, Giles, Graham, Gore, Martin E, De Vivo, Immaculata, Hillemanns, Peter, Hogdall, Claus, Hogdall, Estrid, Iversen, Edwin S, Jacobs, Ian J, Jakubowska, Anna, Li, Dong, Lissowska, Jolanta, Lubiński, Jan, Lurie, Galina, McGuire, Valerie, McLaughlin, John, Mędrek, Krzysztof, Moorman, Patricia G, Moysich, Kirsten, Narod, Steven, Phelan, Catherine, Pye, Carole, Risch, Harvey, Runnebaum, Ingo B, Severi, Gianluca, Southey, Melissa, Stram, Daniel O, Thiel, Falk C, Terry, Kathryn L, Tsai, Ya-Yu, Tworoger, Shelley S, Van Den Berg, David J, Vierkant, Robert A, Wang-Gohrke, Shan, Webb, Penelope M, Wilkens, Lynne R, Wu, Anna H, Yang, Hannah, Brewster, Wendy, Ziogas, Argyrios, Houlston, Richard, Tomlinson, Ian, Whittemore, Alice S, Rossing, Mary Anne, Ponder, Bruce A J, Pearce, Celeste Leigh, Ness, Roberta B, Menon, Usha, Kjaer, Susanne Krüger, Gronwald, Jacek, Garcia-Closas, Montserrat, Fasching, Peter A, Easton, Douglas F, Chenevix-Trench, Georgia, Berchuck, Andrew, Pharoah, Paul D P, Gayther, Simon A·2009·Nature Genetics

Abstract

Epithelial ovarian cancer has a major heritable component, but the known susceptibility genes explain less than half the excess familial risk. 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 ∼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 × 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, Ptrend = 5.1 × 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 × 10−21).

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Metadata

Authors
Study, A. C. (., Song, H., The Australian Ovarian Cancer Study Group, The Ovarian Cancer Association Consortium, Ramus, S. J., Tyrer, J., Bolton, K. L., Gentry-Maharaj, A., Wozniak, E., Anton-Culver, H., Chang-Claude, J., Cramer, D. W., DiCioccio, R., Dörk, T., Goode, E. L., Goodman, M. T., Schildkraut, J. M., Sellers, T., Baglietto, L., Beckmann, M. W., Beesley, J., Blaakaer, J., Carney, M. E., Chanock, S., Chen, Z., Cunningham, J. M., Dicks, E., Doherty, J. A., Dürst, M., Ekici, A. B., Fenstermacher, D., Fridley, B. L., Giles, G., Gore, M. E., De Vivo, I., Hillemanns, P., Hogdall, C., Hogdall, E., Iversen, E. S., Jacobs, I. J., Jakubowska, A., Li, D., Lissowska, J., Lubiński, J., Lurie, G., McGuire, V., McLaughlin, J., Mędrek, K., Moorman, P. G., Moysich, K., Narod, S., Phelan, C., Pye, C., Risch, H., Runnebaum, I. B., Severi, G., Southey, M., Stram, D. O., Thiel, F. C., Terry, K. L., Tsai, Y.-Y., Tworoger, S. S., Van Den Berg, D. J., Vierkant, R. A., Wang-Gohrke, S., Webb, P. M., Wilkens, L. R., Wu, A. H., Yang, H., Brewster, W., Ziogas, A., Houlston, R., Tomlinson, I., Whittemore, A. S., Rossing, M. A., Ponder, B. A. J., Pearce, C. L., Ness, R. B., Menon, U., Kjaer, S. K., Gronwald, J., Garcia-Closas, M., Fasching, P. A., Easton, D. F., Chenevix-Trench, G., Berchuck, A., Pharoah, P. D. P., & Gayther, S. A.
Venue
Nature Genetics
Published
2009-08-02
Volume
41
Issue
9
Pages
996-1000
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
OpenAlex
W2137186819
Cited by
313
References
41
FWCI
38.22
Type
journal article
Language
en
Open access
green

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Study, A. C. (., Song, H., The Australian Ovarian Cancer Study Group, The Ovarian Cancer Association Consortium, Ramus, S. J., Tyrer, J., Bolton, K. L., Gentry-Maharaj, A., Wozniak, E., Anton-Culver, H., Chang-Claude, J., Cramer, D. W., DiCioccio, R., Dörk, T., Goode, E. L., Goodman, M. T., Schildkraut, J. M., Sellers, T., Baglietto, L., . . . Gayther, S. A. (2009). A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. Nature Genetics. https://doi.org/10.1038/ng.424

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

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