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Analyses of germline variants associated with ovarian cancer survival identify functional candidates at the 1q22 and 19p12 outcome loci.

  • Author(s): Glubb, Dylan M;
  • Johnatty, Sharon E;
  • Quinn, Michael CJ;
  • O'Mara, Tracy A;
  • Tyrer, Jonathan P;
  • Gao, Bo;
  • Fasching, Peter A;
  • Beckmann, Matthias W;
  • Lambrechts, Diether;
  • Vergote, Ignace;
  • Velez Edwards, Digna R;
  • Beeghly-Fadiel, Alicia;
  • Benitez, Javier;
  • Garcia, Maria J;
  • Goodman, Marc T;
  • Thompson, Pamela J;
  • Dörk, Thilo;
  • Dürst, Matthias;
  • Modungo, Francesmary;
  • Moysich, Kirsten;
  • Heitz, Florian;
  • du Bois, Andreas;
  • Pfisterer, Jacobus;
  • Hillemanns, Peter;
  • AGO Study Group;
  • Karlan, Beth Y;
  • Lester, Jenny;
  • Goode, Ellen L;
  • Cunningham, Julie M;
  • Winham, Stacey J;
  • Larson, Melissa C;
  • McCauley, Bryan M;
  • Kjær, Susanne Krüger;
  • Jensen, Allan;
  • Schildkraut, Joellen M;
  • Berchuck, Andrew;
  • Cramer, Daniel W;
  • Terry, Kathryn L;
  • Salvesen, Helga B;
  • Bjorge, Line;
  • Webb, Penny M;
  • Grant, Peter;
  • Pejovic, Tanja;
  • Moffitt, Melissa;
  • Hogdall, Claus K;
  • Hogdall, Estrid;
  • Paul, James;
  • Glasspool, Rosalind;
  • Bernardini, Marcus;
  • Tone, Alicia;
  • Huntsman, David;
  • Woo, Michelle;
  • Group, Aocs;
  • deFazio, Anna;
  • Kennedy, Catherine J;
  • Pharoah, Paul DP;
  • MacGregor, Stuart;
  • Chenevix-Trench, Georgia
  • et al.

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We previously identified associations with ovarian cancer outcome at five genetic loci. To identify putatively causal genetic variants and target genes, we prioritized two ovarian outcome loci (1q22 and 19p12) for further study. Bioinformatic and functional genetic analyses indicated that MEF2D and ZNF100 are targets of candidate outcome variants at 1q22 and 19p12, respectively. At 19p12, the chromatin interaction of a putative regulatory element with the ZNF100 promoter region correlated with candidate outcome variants. At 1q22, putative regulatory elements enhanced MEF2D promoter activity and haplotypes containing candidate outcome variants modulated these effects. In a public dataset, MEF2D and ZNF100 expression were both associated with ovarian cancer progression-free or overall survival time. In an extended set of 6,162 epithelial ovarian cancer patients, we found that functional candidates at the 1q22 and 19p12 loci, as well as other regional variants, were nominally associated with patient outcome; however, no associations reached our threshold for statistical significance (p<1×10-5). Larger patient numbers will be needed to convincingly identify any true associations at these loci.

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