2019
Genome-wide Analysis of Common Copy Number Variation and Epithelial Ovarian Cancer Risk
Reid BM, Permuth JB, Chen YA, Fridley BL, Iversen ES, Chen Z, Jim H, Vierkant RA, Cunningham JM, Barnholtz-Sloan JS, Narod S, Risch H, Schildkraut JM, Goode EL, Monteiro AN, Sellers TA. Genome-wide Analysis of Common Copy Number Variation and Epithelial Ovarian Cancer Risk. Cancer Epidemiology Biomarkers & Prevention 2019, 28: 1117-1126. PMID: 30948450, PMCID: PMC6606353, DOI: 10.1158/1055-9965.epi-18-0833.Peer-Reviewed Original ResearchConceptsCommon CNV regionsCopy number variationsEOC susceptibilityNumber variationsTumor gene expressionGenome-wide analysisDNA copy number variationsWide association studyCommon copy number variationCancer Genome AtlasGenetic variationCNV regionsAssociation studiesFrequency variantsTCGA tumorsSomatic deletionGenome AtlasDeletion
2016
Inherited variants affecting RNA editing may contribute to ovarian cancer susceptibility: results from a large-scale collaboration
Permuth JB, Reid B, Earp M, Chen YA, Monteiro AN, Chen Z, Group A, Chenevix-Trench G, Fasching PA, Beckmann MW, Lambrechts D, Vanderstichele A, Van Niewenhuyse E, Vergote I, Rossing MA, Doherty JA, Chang-Claude J, Moysich K, Odunsi K, Goodman MT, Shvetsov YB, Wilkens LR, Thompson PJ, Dörk T, Bogdanova N, Butzow R, Nevanlinna H, Pelttari L, Leminen A, Modugno F, Edwards RP, Ness RB, Kelley J, Heitz F, Karlan B, Lester J, Kjaer SK, Jensen A, Giles G, Hildebrandt M, Liang D, Lu KH, Wu X, Levine DA, Bisogna M, Berchuck A, Cramer DW, Terry KL, Tworoger SS, Poole EM, Bandera EV, Fridley B, Cunningham J, Winham SJ, Olson SH, Orlow I, Bjorge L, Kiemeney LA, Massuger L, Pejovic T, Moffitt M, Le N, Cook LS, Brooks-Wilson A, Kelemen LE, Gronwald J, Lubinski J, Wentzensen N, Brinton LA, Lissowska J, Yang H, Hogdall E, Hogdall C, Lundvall L, Pharoah PD, Song H, Campbell I, Eccles D, McNeish I, Whittemore A, McGuire V, Sieh W, Rothstein J, Phelan CM, Risch H, Narod S, McLaughlin J, Anton-Culver H, Ziogas A, Menon U, Gayther S, Ramus SJ, Gentry-Maharaj A, Pearce CL, Wu AH, Kupryjanczyk J, Dansonka-Mieszkowska A, Schildkraut JM, Cheng JQ, Goode EL, Sellers TA. Inherited variants affecting RNA editing may contribute to ovarian cancer susceptibility: results from a large-scale collaboration. Oncotarget 2016, 5: 72381-72394. PMID: 27911851, PMCID: PMC5340123, DOI: 10.18632/oncotarget.10546.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsGene-level analysisRNA editingEOC susceptibilityADAR expressionExpression quantitative trait loci (eQTL) analysisQuantitative trait locus (QTL) analysisPost-transcriptional modificationsSequence kernel association testAdmixture maximum likelihood testInvasive EOC casesADAR genesRNA familiesLocus analysisUntranslated regionGene expressionAssociation analysisOvarian cancer susceptibilityADARGermline variationNucleotide polymorphismsTissue gene expressionMaximum likelihood testADAR3European ancestry
2013
Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31
Permuth-Wey J, Lawrenson K, Shen HC, Velkova A, Tyrer JP, Chen Z, Lin HY, Ann Chen Y, Tsai YY, Qu X, Ramus SJ, Karevan R, Lee J, Lee N, Larson MC, Aben KK, Anton-Culver H, Antonenkova N, Antoniou AC, Armasu SM, Bacot F, Baglietto L, Bandera E, Barnholtz-Sloan J, Beckmann M, Birrer M, Bloom G, Bogdanova N, Brinton L, Brooks-Wilson A, Brown R, Butzow R, Cai Q, Campbell I, Chang-Claude J, Chanock S, Chenevix-Trench G, Cheng J, Cicek M, Coetzee G, Cook L, Couch F, Cramer D, Cunningham J, Dansonka-Mieszkowska A, Despierre E, Doherty J, Dörk T, du Bois A, Dürst M, Easton D, Eccles D, Edwards R, Ekici A, Fasching P, Fenstermacher D, Flanagan J, Garcia-Closas M, Gentry-Maharaj A, Giles G, Glasspool R, Gonzalez-Bosquet J, Goodman M, Gore M, Górski B, Gronwald J, Hall P, Halle M, Harter P, Heitz F, Hillemanns P, Hoatlin M, Høgdall C, Høgdall E, Hosono S, Jakubowska A, Jensen A, Jim H, Kalli K, Karlan B, Kaye S, Kelemen L, Kiemeney L, Kikkawa F, Konecny G, Krakstad C, Krüger Kjaer S, Kupryjanczyk J, Lambrechts D, Lambrechts S, Lancaster J, Le N, Leminen A, Levine D, Liang D, Kiong Lim B, Lin J, Lissowska J, Lu K, Lubiński J, Lurie G, Massuger L, Matsuo K, McGuire V, McLaughlin J, Menon U, Modugno F, Moysich K, Nakanishi T, Narod S, Nedergaard L, Ness R, Nevanlinna H, Nickels S, Noushmehr H, Odunsi K, Olson S, Orlow I, Paul J, Pearce C, Pejovic T, Pelttari L, Pike M, Poole E, Raska P, Renner S, Risch H, Rodriguez-Rodriguez L, Anne Rossing M, Rudolph A, Runnebaum I, Rzepecka I, Salvesen H, Schwaab I, Severi G, Shridhar V, Shu X, Shvetsov Y, Sieh W, Song H, Southey M, Spiewankiewicz B, Stram D, Sutphen R, Teo S, Terry K, Tessier D, Thompson P, Tworoger S, van Altena A, Vergote I, Vierkant R, Vincent D, Vitonis A, Wang-Gohrke S, Palmieri Weber R, Wentzensen N, Whittemore A, Wik E, Wilkens L, Winterhoff B, Ling Woo Y, Wu A, Xiang Y, Yang H, Zheng W, Ziogas A, Zulkifli F, Phelan C, Iversen E, Schildkraut J, Berchuck A, Fridley B, Goode E, Pharoah P, Monteiro A, Sellers T, Gayther S. Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31. Nature Communications 2013, 4: 1627. PMID: 23535648, PMCID: PMC3709460, DOI: 10.1038/ncomms2613.Peer-Reviewed Original ResearchConceptsOvarian cancer susceptibility lociMiRNA-related single nucleotide polymorphismsEOC susceptibilityIntegrated molecular analysisCommon susceptibility variantsCancer susceptibility lociEOC susceptibility genesCollaborative Oncological Gene-environment StudyInversion polymorphismSingle nucleotide polymorphismsUntranslated regionHeritable componentMolecular characterizationSusceptibility lociAdditional genotypingFunctional targetSusceptibility variantsSusceptibility genesMolecular analysisStrong signalGene-environment studiesPolymorphismARHGAP27PLEKHM1MiRSNPs
2011
Inherited Variants in Mitochondrial Biogenesis Genes May Influence Epithelial Ovarian Cancer Risk
Permuth-Wey J, Chen YA, Tsai YY, Chen Z, Qu X, Lancaster JM, Stockwell H, Dagne G, Iversen E, Risch H, Barnholtz-Sloan J, Cunningham JM, Vierkant RA, Fridley BL, Sutphen R, McLaughlin J, Narod SA, Goode EL, Schildkraut JM, Fenstermacher D, Phelan CM, Sellers TA. Inherited Variants in Mitochondrial Biogenesis Genes May Influence Epithelial Ovarian Cancer Risk. Cancer Epidemiology Biomarkers & Prevention 2011, 20: 1131-1145. PMID: 21447778, PMCID: PMC3111851, DOI: 10.1158/1055-9965.epi-10-1224.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinoma, Clear CellAdenocarcinoma, MucinousBasic-Leucine Zipper Transcription FactorsCalcium-Calmodulin-Dependent Protein Kinase Type 2Case-Control StudiesCystadenocarcinoma, SerousDNA, MitochondrialEndometrial NeoplasmsFemaleGenes, MitochondrialGenotypeHeat-Shock ProteinsHumansMiddle AgedMitochondrial ProteinsNF-E2-Related Factor 2Nuclear Respiratory Factor 1Ovarian NeoplasmsOxidative StressPeroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alphaPolymorphism, Single NucleotideReceptors, EstrogenRisk FactorsTranscription FactorsConceptsMitochondrial biogenesis genesSingle nucleotide polymorphismsBiogenesis genesMitochondrial biogenesisSNP-level associationsOxidative phosphorylation pathwayEpithelial ovarian cancer susceptibilityMitochondrial-related genesGenes/regionsMitochondrial genomeOxidative stressPhosphorylation pathwayMTERFsSNP levelEOC susceptibilityGenesOvarian cancer susceptibilityNucleotide polymorphismsBiogenesisCancer susceptibilitySteroid hormone metabolismHormone metabolismEOC riskComplex mechanismsNongenetic factorsLIN28B Polymorphisms Influence Susceptibility to Epithelial Ovarian Cancer
Permuth-Wey J, Kim D, Tsai YY, Lin HY, Chen YA, Barnholtz-Sloan J, Birrer MJ, Bloom G, Chanock SJ, Chen Z, Cramer DW, Cunningham JM, Dagne G, Ebbert-Syfrett J, Fenstermacher D, Fridley BL, Garcia-Closas M, Gayther SA, Ge W, Gentry-Maharaj A, Gonzalez-Bosquet J, Goode EL, Iversen E, Jim H, Kong W, McLaughlin J, Menon U, Monteiro AN, Narod SA, Pharoah PD, Phelan CM, Qu X, Ramus SJ, Risch H, Schildkraut JM, Song H, Stockwell H, Sutphen R, Terry KL, Tyrer J, Vierkant RA, Wentzensen N, Lancaster JM, Cheng JQ, Sellers TA, Consortium O. LIN28B Polymorphisms Influence Susceptibility to Epithelial Ovarian Cancer. Cancer Research 2011, 71: 3896-3903. PMID: 21482675, PMCID: PMC3107389, DOI: 10.1158/0008-5472.can-10-4167.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAllelesCarcinoma, Ovarian EpithelialCase-Control StudiesCell Line, TumorDNA-Binding ProteinsDNA, NeoplasmFemaleGenetic Predisposition to DiseaseHumansMicroRNAsMiddle AgedNeoplasms, Glandular and EpithelialOvarian NeoplasmsPolymorphism, Single NucleotideRNA-Binding ProteinsTransfectionConceptsMiRNA biogenesis genesSingle nucleotide polymorphismsBiogenesis genesPutative transcription factorLuciferase reporter assaysMicroRNA biogenesisTranscription factorsPromoter regionTumor suppressorReporter assaysQuantitative RT-PCREOC susceptibilityGenesNucleotide polymorphismsLIN28B overexpressionLIN28B expressionLIN28B geneInfluence susceptibilityRT-PCRExpressionEpithelial ovarian cancerBiogenesisDroshaOvarian cancerFMR1