Common variants at 19p13 are associated with susceptibility to ovarian cancer.
Epithelial ovarian cancer (EOC) is the leading cause of death from gynecological malignancy in the developed world, accounting for 4% of the deaths from cancer in women. We performed a three-phase genome-wide association study of EOC survival in 8,951 individuals with EOC (cases) with available survival time data and a parallel association analysis of EOC susceptibility. Two SNPs at 19p13.11, rs8170 and rs2363956, showed evidence of association with survival (overall P = 5 × 10⁻⁴ and P = 6 × 10⁻⁴, respectively), but they did not replicate in phase 3. However, the same two SNPs demonstrated genome-wide significance for risk of serous EOC (P = 3 × 10⁻⁹ and P = 4 × 10⁻¹¹, respectively). Expression analysis of candidate genes at this locus in ovarian tumors supported a role for the BRCA1-interacting gene C19orf62, also known as MERIT40, which contains rs8170, in EOC development.
Bolton, KL; Tyrer, J; Song, H; Ramus, SJ; Notaridou, M; Jones, C; Sher, T; Gentry-Maharaj, A; Wozniak, E; Tsai, Y-Y; Weidhaas, J; Paik, D; Van Den Berg, DJ; Stram, DO; Pearce, CL; Wu, AH; Brewster, W; Anton-Culver, H; Ziogas, A; Narod, SA; Levine, DA; Kaye, SB; Brown, R; Paul, J; Flanagan, J; Sieh, W; McGuire, V; Whittemore, AS; Campbell, I; Gore, ME; Lissowska, J; Yang, HP; Medrek, K; Gronwald, J; Lubinski, J; Jakubowska, A; Le, ND; Cook, LS; Kelemen, LE; Brooks-Wilson, A; Massuger, LFAG; Kiemeney, LA; Aben, KKH; van Altena, AM; Houlston, R; Tomlinson, I; Palmieri, RT; Moorman, PG; Schildkraut, J; Iversen, ES; Phelan, C; Vierkant, RA; Cunningham, JM; Goode, EL; Fridley, BL; Kruger-Kjaer, S; Blaeker, J; Hogdall, E; Hogdall, C; Gross, J; Karlan, BY; Ness, RB; Edwards, RP; Odunsi, K; Moyisch, KB; Baker, JA; Modugno, F; Heikkinenen, T; Butzow, R; Nevanlinna, H; Leminen, A; Bogdanova, N; Antonenkova, N; Doerk, T; Hillemanns, P; Dürst, M; Runnebaum, I; Thompson, PJ; Carney, ME; Goodman, MT; Lurie, G; Wang-Gohrke, S; Hein, R; Chang-Claude, J; Rossing, MA; Cushing-Haugen, KL; Doherty, J; Chen, C; Rafnar, T; Besenbacher, S; Sulem, P; Stefansson, K; Birrer, MJ; Terry, KL; Hernandez, D; Cramer, DW; Vergote, I; Amant, F; Lambrechts, D; Despierre, E; Fasching, PA; Beckmann, MW; Thiel, FC; Ekici, AB; Chen, X; Australian Ovarian Cancer Study Group, ; Australian Cancer Study (Ovarian Cancer), ; Ovarian Cancer Association Consortium, ; Johnatty, SE; Webb, PM; Beesley, J; Chanock, S; Garcia-Closas, M; Sellers, T; Easton, DF; Berchuck, A; Chenevix-Trench, G; Pharoah, PDP; Gayther, SA
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