Genome-wide significant risk associations for mucinous ovarian carcinoma

Kelemen, L.E. et al. (2015) Genome-wide significant risk associations for mucinous ovarian carcinoma. Nature Genetics, 47(8), pp. 888-897. (doi: 10.1038/ng.3336) (PMID:26075790) (PMCID:PMC4520768)

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Genome-wide association studies have identified several risk associations for ovarian carcinomas but not for mucinous ovarian carcinomas (MOCs). Our analysis of 1,644 MOC cases and 21,693 controls with imputation identified 3 new risk associations: rs752590 at 2q13 (P = 3.3 × 10−8), rs711830 at 2q31.1 (P = 7.5 × 10−12) and rs688187 at 19q13.2 (P = 6.8 × 10−13). We identified significant expression quantitative trait locus (eQTL) associations for HOXD9 at 2q31.1 in ovarian (P = 4.95 × 10−4, false discovery rate (FDR) = 0.003) and colorectal (P = 0.01, FDR = 0.09) tumors and for PAX8 at 2q13 in colorectal tumors (P = 0.03, FDR = 0.09). Chromosome conformation capture analysis identified interactions between the HOXD9 promoter and risk-associated SNPs at 2q31.1. Overexpressing HOXD9 in MOC cells augmented the neoplastic phenotype. These findings provide the first evidence for MOC susceptibility variants and insights into the underlying biology of the disease.

Item Type:Articles
Glasgow Author(s) Enlighten ID:Glasspool, Dr Rosalind and Paul, Mr James and Carty, Mrs Karen and Mcneish, Professor Iain
Authors: Kelemen, L.E., Lawrenson, K., Tyrer, J., Li, Q., Lee, J.M., Seo, J.-H., Phelan, C.M., Beesley, J., Chen, X., Spindler, T.J., Aben, K.K.H., Anton-Culver, H., Antonenkova, N., Baker, H., Bandera, E.V., Bean, Y., Beckmann, M.W., Bisogna, M., Bjorge, L., Bogdanova, N., Brinton, L.A., Brooks-Wilson, A., Bruinsma, F., Butzow, R., Campbell, I.G., Carty, K., Chang-Claude, J., Chen, Y.A., Chen, Z., Cook, L.S., Cramer, D.W., Cunningham, J.M., Cybulski, C., Dansonka-Mieszkowska, A., Dennis, J., Dicks, E., Doherty, J.A., Dörk, T., du Bois, A., Dürst, M., Eccles, D., Easton, D.T., Edwards, R.P., Eilber, U., Ekici, A.B., Engelholm, S.A., Fasching, P.A., Fridley, B.L., Gao, Y.-T., Gentry-Maharaj, A., Giles, G.G., Glasspool, R., Goode, E.L., Goodman, M.T., Grownwald, J., Harrington, P., Harter, P., Hasmad, H.N., Hein, A., Heitz, F., Hildebrandt, M.A.T., Hillemanns, P., Hogdall, E., Hogdall, C., Hosono, S., Iversen, E.S., Jakubowska, A., Jensen, A., Ji, B.-T., Karlan, B.Y., Kellar, M., Kelley, J.L., Kiemeney, L.A., Krakstad, C., Kjaer, S.K., Kupryjanczyk, J., Lambrechts, D., Lambrechts, S., Le, N.D., Lee, A.W., Lele, S., Leminen, A., Lester, J., Levine, D.A., Liang, D., Lissowska, J., Lu, K., Lubinski, J., Lundvall, L., Massuger, L.F.A.G., Matsuo, K., McGuire, V., McLaughlin, J.R., Mcneish, I., Menon, U., Modugno, F., Moes-Sosnowska, J., Moysich, K.B., Narod, S.A., Nedergaard, L., Ness, R.B., Nevanlinna, H., Adenan, N.A.M., Odunsi, K., Olson, S.H., Orlow, I., Orsulic, S., Weber, R.P., Paul, J., Pearce, C.L., Pejovic, T., Pelttari, L.M., Permuth-Wey, J., Pike, M.C., Poole, E.M., Ramus, S.J., Risch, H.A., Rosen, B., Rossing, M.A., Rothstein, J.H., Rudolph, A., Runnebaum, I.B., Rzepecka, I.K., Salvesen, H.B., Schildkraut, J.M., Schwaab, I., Shu, X.-O., Shvetsov, Y.B., Siddiqui, N., Sieh, W., Song, H., Southey, M.C., Sucheston, L., Tangen, I.L., Teo, S.-H., Terry, K.L., Thompson, P.J., Tworoger, S.S., van Altena, A.M., Van Nieuwenhuysen, E., Vergote, I., Vierkant, R.A., Wang-Gohrke, S., Walsh, C., Wentzensen, N., Whittemore, A.S., Wicklund, K.G., Wilkens, L.R., Sawicki, W., Woo, Y.-L., Wu, X., Wu, A.H., Yang, H., Zheng, W., Ziogas, A., Sellers, T.A., Freedman, M.L., Chenevix-Trench, G., Pharoah, P.D.P., Gayther, S.A., and Berchuck, A.
College/School:College of Medical Veterinary and Life Sciences > School of Cancer Sciences
College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
Journal Name:Nature Genetics
Publisher:Nature Publishing Group
ISSN (Online):1546-1718

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