biostudies-literatureGlubb DMCancer Research UKNCATS NIH HHSNCRR NIH HHSThe Francis Crick InstituteNCI NIH HHS64670-64684https://www.ebi.ac.uk/biostudies/studies/S-EPMC5630285biostudies-literatureUnknown8(39)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 <i>MEF2D</i> and <i>ZNF100</i> are targets of candidate outcome variants at 1q22 and 19p12, respectively. At 19p12, the chromatin interaction of a putative regulatory element with the <i>ZNF100</i> promoter region correlated with candidate outcome variants. At 1q22, putative regulatory elements enhanced <i>MEF2D</i> promoter activity and haplotypes containing candidate outcome variants modulated these effects. In a public dataset, <i>MEF2D</i> and <i>ZNF100</i> expression were both associated with ovarianOncotargetAnalyses of germline variants associated with ovarian cancer survival identify functional candidates at the 1q22 and 19p12 outcome loci.PMC5630285R01 CA07601616561P30 CA008748UL1 TR000124P50 CA159981K07 CA080668UL1 TR001881U19 CA148537R01 CA126841R01 CA054419R01 CA149429R01 CA12897810119R01 CA122443P50 CA136393P30 CA015083P50 CA105009U19 CA148065R01 CA058598U19 CA148112M01 RR00005610124R01 CA095023Heitz FGao BDork TPaul JKennedy CJModungo FWebb PMPharoah PDPHogdall CKGlubb DMWinham SJLarson MCTone ABjorge LWoo MChenevix-Trench GSalvesen HBJohnatty SEQuinn MCJMoffitt MFasching PAHillemanns PLester JHuntsman DThompson PJMacGregor SO'Mara TAKjær SKBerchuck AGrant PKarlan BYVelez Edwards DRTerry KLTyrer JPPejovic TJensen AdeFazio ABenitez JBeckmann MWCunningham JMMoysich KAGO Study GroupSchildkraut JMDurst MCramer DWBernardini MVergote IGarcia MJPfisterer JGoodman MTGlasspool RLambrechts DHogdall EGroup ABeeghly-Fadiel AMcCauley BMdu Bois AGoode ELfalseAnalyses of germline variants associated with ovarian cancer survival identify functional candidates at the 1q22 and 19p12 outcome loci.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 <i>MEF2D</i> and <i>ZNF100</i> are targets of candidate outcome variants at 1q22 and 19p12, respectively. At 19p12, the chromatin interaction of a putative regulatory element with the <i>ZNF100</i> promoter region correlated with candidate outcome variants. At 1q22, putative regulatory elements enhanced <i>MEF2D</i> promoter activity and haplotypes containing candidate outcome variants modulated these effects. In a public dataset, <i>MEF2D</i> and <i>ZNF100</i> expression were both associated with ovarian2017-01-01T00:00:00Z2017 Sep2026-04-30T14:30:06.171Z2019-03-27T02:58:22ZS-EPMC56302852902938510.18632/oncotarget.18501