Enrichment of putative PAX8 target genes at serous epithelial ovarian cancer susceptibility loci
- Kar, S.P.
- Adler, E.
- Tyrer, J.
- Hazelett, D.
- Anton-Culver, H.
- Bandera, E.V.
- Beckmann, M.W.
- Berchuck, A.
- Bogdanova, N.
- Brinton, L.
- Butzow, R.
- Campbell, I.
- Carty, K.
- Chang-Claude, J.
- Cook, L.S.
- Cramer, D.W
- Cunningham, J.M.
- Dansonka-Mieszkowska, A.
- Doherty, J.A.
- Dork, T.
- Durst, M.
- Eccles, D.
- Fasching, P.A.
- Flanagan, J.
- Gentry-Maharaj, A.
- Glasspool, R.
- Goode, E.L.
- Goodman, M.T.
- Gronwald, J.
- Heitz, F.
- Hildebrandt, M.A.T.
- Hogdall, E.
- Hogdall, C.K.
- Huntsman, D.G.
- Jensen, A.
- Karlan, B.Y.
- Kelemen, L.E.
- Kiemeney, L.A.L.M.
- Kjaer, S.K.
- Kupryjanczyk, J.
- Lambrechts, D.
- Levine, D.A.
- Li, Q.
- Lissowska, J.
- Lu, K.H.
- Lubinski, J.
- Massuger, L.F.A.G.
- McGuire, V.
- McNeish, I.
- Menon, U.
- Modugno, F.
- Monteiro, A.N.
- Moysich, K.B.
- Ness, R.B.
- Nevanlinna, H.
- Paul, J.
- Pearce, C.L.
- Pejovic, T.
- Permuth, J.B.
- Phelan, C.
- Pike, M.C.
- Poole, E.M.
- Ramus, S.J.
- Risch, H.A.
- Rossing, M.A.
- Salvesen, H.B.
- Schildkraut, J.M.
- Sellers, T.A.
- Sherman, M.
- Siddiqui, N.
- Sieh, W.
- Song, H.
- Southey, M.
- Terry, K.L.
- Tworoger, S.S.
- Walsh, C.
- Wentzensen, N.
- Whittemore, A.S.
- Wu, A.H.
- Yang, H.
- Zheng, W.
- Ziogas, A.
- Freedman, M.L.
- Gayther, S.A.
- Pharoah, P.D.
- Lawrenson, K.
DOIAbstract
BACKGROUND: Genome-wide association studies (GWAS) have identified 18 loci associated with serous ovarian cancer (SOC) susceptibility but the biological mechanisms driving these findings remain poorly characterised. Germline cancer risk loci may be enriched for target genes of transcription factors (TFs) critical to somatic tumorigenesis. METHODS: All 615 TF-target sets from the Molecular Signatures Database were evaluated using gene set enrichment analysis (GSEA) and three GWAS for SOC risk: discovery (2196 cases/4396 controls), replication (7035 cases/21 693 controls; independent from discovery), and combined (9627 cases/30 845 controls; including additional individuals). RESULTS: The PAX8-target gene set was ranked 1/615 in the discovery...
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