2019
Functional analysis and fine mapping of the 9p22.2 ovarian cancer susceptibility locus
Buckley MA, Woods NT, Tyrer JP, Mendoza-Fandiño G, Lawrenson K, Hazelett DJ, Najafabadi HS, Gjyshi A, Carvalho RS, Lyra PC, Coetzee SG, Shen HC, Yang AW, Earp MA, Yoder S, Risch H, Chenevix-Trench G, Ramus SJ, Phelan CM, Coetzee GA, Noushmehr H, Hughes TR, Sellers TA, Goode EL, Pharoah P, Gayther SA, Monteiro A. Functional analysis and fine mapping of the 9p22.2 ovarian cancer susceptibility locus. Cancer Research 2019, 79: canres.3864.2017. PMID: 30487138, PMCID: PMC6359979, DOI: 10.1158/0008-5472.can-17-3864.Peer-Reviewed Original ResearchMeSH KeywordsBase SequenceCarcinoma, Ovarian EpithelialCell Cycle ProteinsCell Line, TumorChromosome MappingChromosomes, Human, Pair 9Cystadenocarcinoma, SerousDNA, NeoplasmDNA-Binding ProteinsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHEK293 CellsHumansLinkage DisequilibriumOvarian NeoplasmsPolymorphism, Single NucleotideConceptsScaffold/matrix attachment regionsMatrix attachment regionsTarget genesAttachment regionsOvarian cancer susceptibility lociGenome-wide association studiesCancer risk lociLikely target genesTranscriptional regulatory elementsAllele-specific effectsDownstream target genesLikely causal variantsCancer susceptibility lociCandidate causal SNPsFine mappingRegulatory elementsLoci identifiesCausal variantsRisk lociCausal SNPsFunctional analysisAssociation studiesCancer risk genesSusceptibility lociRisk genes
2018
Fallopian tube lesions in women at high risk for ovarian cancer: A multicenter study
Visvanathan K, Shaw P, May BJ, Bahadirli-Talbot A, Kaushiva A, Risch H, Narod S, Wang TL, Parkash V, Vang R, Levine DA, Soslow R, Kurman R, Shih IM. Fallopian tube lesions in women at high risk for ovarian cancer: A multicenter study. Cancer Prevention Research 2018, 11: canprevres.0009.2018. PMID: 30232083, PMCID: PMC6760670, DOI: 10.1158/1940-6207.capr-18-0009.Peer-Reviewed Original ResearchMeSH KeywordsAdultAge FactorsBiomarkers, TumorBRCA1 ProteinBRCA2 ProteinCystadenocarcinoma, SerousDisease ProgressionFallopian Tube NeoplasmsFallopian TubesFemaleHumansMedical History TakingMiddle AgedOvarian NeoplasmsOvaryPrecancerous ConditionsPrevalencePrognosisProspective StudiesRetrospective StudiesSalpingo-oophorectomyConceptsSerous tubal intraepithelial lesionsHigh-grade serous ovarian carcinomaSerous tubal intraepithelial carcinomaP53 signatureRisk/protective factorsProtective factorsMultiple lesionsFallopian tubePrognosis of womenHigh-risk womenTubal intraepithelial carcinomaTubal intraepithelial lesionsSerous ovarian carcinomaPutative precursor lesionsYears of ageIntraepithelial lesionsIntraepithelial carcinomaMulticenter studyInvasive cancerOvarian carcinomaDisease progressionPrecursor lesionsEpidemiologic dataCombined prevalenceTubal lesions
2017
Epidemiologic factors that predict long-term survival following a diagnosis of epithelial ovarian cancer
Kim SJ, Rosen B, Fan I, Ivanova A, McLaughlin JR, Risch H, Narod SA, Kotsopoulos J. Epidemiologic factors that predict long-term survival following a diagnosis of epithelial ovarian cancer. British Journal Of Cancer 2017, 116: 964-971. PMID: 28208158, PMCID: PMC5379147, DOI: 10.1038/bjc.2017.35.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinoma, Clear CellAdenocarcinoma, MucinousAdultAgedCanadaCystadenocarcinoma, SerousEndometrial NeoplasmsEpidemiologic FactorsFemaleFollow-Up StudiesHormone Replacement TherapyHumansMiddle AgedNeoplasm InvasivenessNeoplasm StagingOvarian NeoplasmsParityPregnancyPrognosisReproductive HistoryYoung AdultConceptsOvarian cancer-specific mortalityCancer-specific mortalityHormone replacement therapyRisk of deathEpithelial ovarian cancerOvarian cancerHazard ratioEpidemiologic factorsOvulatory cyclesOvarian cancer-specific deathOvarian cancer-specific survivalInvasive epithelial ovarian cancerBMI 5 yearsCancer-specific survivalCancer-specific deathOntario Cancer RegistryProportional hazards regressionConfidence intervalsBorderline significant associationOvarian cancer developmentLong-term survivalGreater cumulative numberHRT useCancer RegistryHistologic subtypeEnrichment of putative PAX8 target genes at serous epithelial ovarian cancer susceptibility loci
Kar SP, Adler E, Tyrer J, Hazelett D, Anton-Culver H, Bandera EV, Beckmann MW, Berchuck A, Bogdanova N, Brinton L, Butzow R, Campbell I, Carty K, Chang-Claude J, Cook LS, Cramer DW, Cunningham JM, Dansonka-Mieszkowska A, Doherty JA, Dörk T, Dürst M, Eccles D, Fasching PA, Flanagan J, Gentry-Maharaj A, Glasspool R, Goode EL, Goodman MT, Gronwald J, Heitz F, Hildebrandt MA, Høgdall E, Høgdall CK, Huntsman DG, Jensen A, Karlan BY, Kelemen LE, Kiemeney LA, Kjaer SK, Kupryjanczyk J, Lambrechts D, Levine DA, Li Q, Lissowska J, Lu KH, Lubiński J, Massuger LF, McGuire V, McNeish I, Menon U, Modugno F, Monteiro AN, Moysich KB, Ness RB, Nevanlinna H, Paul J, Pearce CL, Pejovic T, Permuth JB, Phelan C, Pike MC, Poole EM, Ramus SJ, Risch HA, Rossing MA, Salvesen HB, Schildkraut JM, Sellers TA, Sherman M, Siddiqui N, Sieh W, Song H, Southey M, Terry KL, Tworoger SS, Walsh C, Wentzensen N, Whittemore AS, Wu AH, Yang H, Zheng W, Ziogas A, Freedman ML, Gayther SA, Pharoah PD, Lawrenson K. Enrichment of putative PAX8 target genes at serous epithelial ovarian cancer susceptibility loci. British Journal Of Cancer 2017, 116: 524-535. PMID: 28103614, PMCID: PMC5318969, DOI: 10.1038/bjc.2016.426.Peer-Reviewed Original ResearchMeSH KeywordsCarcinoma, Ovarian EpithelialCase-Control StudiesCell Line, TumorCell Transformation, NeoplasticCystadenocarcinoma, SerousFemaleGene AmplificationGene Expression ProfilingGene Expression Regulation, NeoplasticGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMeta-Analysis as TopicMicroarray AnalysisNeoplasms, Glandular and EpithelialOvarian NeoplasmsPolymorphism, Single NucleotideConceptsGenome-wide association studiesTarget genesTranscription factorsRisk lociOvarian cancer susceptibility lociCancer risk lociDifferential gene expressionCancer susceptibility lociMolecular Signatures DatabaseShRNA-mediated silencingGene setsEnrichment analysisGene expressionTranscriptomic perturbationsAssociation studiesSusceptibility lociGenesLociOvarian cancer susceptibilityRisk variantsAgnostic evaluationCell of originCancer susceptibilityBiological mechanismsPathway
2016
Association Between Menopausal Estrogen-Only Therapy and Ovarian Carcinoma Risk
Lee AW, Ness RB, Roman LD, Terry KL, Schildkraut JM, Chang-Claude J, Doherty JA, Menon U, Cramer DW, Gayther SA, Risch H, Gentry-Maharaj A, Goodman MT, Modugno F, Eilber U, Moysich KB, Berchuck A, Rossing MA, Jensen A, Wicklund KG, Cushing-Haugen KL, Hogdall E, Rudolph A, Thompson PJ, Wilkens LR, Kjaer SK, Carney ME, Stram DO, Ramus SJ, Wu AH, Pike MC, Pearce CL. Association Between Menopausal Estrogen-Only Therapy and Ovarian Carcinoma Risk. Obstetrics And Gynecology 2016, 127: 828-836. PMID: 27054934, PMCID: PMC4892111, DOI: 10.1097/aog.0000000000001387.Peer-Reviewed Original ResearchMeSH KeywordsCarcinoma, EndometrioidCystadenocarcinoma, SerousEstrogen Replacement TherapyEstrogensFemaleHumansMenopauseOvarian NeoplasmsRisk AssessmentSurveys and QuestionnairesUnited StatesConceptsEndometrioid ovarian carcinomaTherapy useOvarian carcinomaPostmenopausal estrogenControl groupPopulation-based case-control studyCase-control studyOvarian carcinoma histotypesOvarian carcinoma riskConditional logistic regressionOvarian Cancer Association ConsortiumSerous ovarian carcinomaDuration of useTiming of useTherapy usersMenopausal estrogensPooled analysisRisk factorsSelf-reported questionnaire dataCarcinoma riskCarcinomaEstrogenRecent usersLogistic regressionHistotype
2015
Network-Based Integration of GWAS and Gene Expression Identifies a HOX-Centric Network Associated with Serous Ovarian Cancer Risk
Kar SP, Tyrer JP, Li Q, Lawrenson K, Aben KK, Anton-Culver H, Antonenkova N, Chenevix-Trench G, Study O, Group A, Baker H, Bandera EV, Bean YT, Beckmann MW, Berchuck A, Bisogna M, Bjørge L, Bogdanova N, Brinton L, Brooks-Wilson A, Butzow R, Campbell I, Carty K, Chang-Claude J, Chen YA, Chen Z, Cook LS, Cramer D, Cunningham JM, Cybulski C, Dansonka-Mieszkowska A, Dennis J, Dicks E, Doherty JA, Dörk T, du Bois A, Dürst M, Eccles D, Easton DF, Edwards RP, Ekici AB, Fasching PA, Fridley BL, Gao YT, Gentry-Maharaj A, Giles GG, Glasspool R, Goode EL, Goodman MT, Grownwald J, Harrington P, Harter P, Hein A, Heitz F, Hildebrandt MA, Hillemanns P, Hogdall E, Hogdall CK, Hosono S, Iversen ES, Jakubowska A, Paul J, Jensen A, Ji BT, Karlan BY, Kjaer SK, Kelemen LE, Kellar M, Kelley J, Kiemeney LA, Krakstad C, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le ND, Lee AW, Lele S, Leminen A, Lester J, Levine DA, Liang D, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger L, Matsuo K, McGuire V, McLaughlin JR, McNeish IA, Menon U, Modugno F, Moysich KB, Narod SA, Nedergaard L, Ness RB, Nevanlinna H, Odunsi K, Olson SH, Orlow I, Orsulic S, Weber RP, Pearce CL, Pejovic T, Pelttari LM, Permuth-Wey J, Phelan CM, Pike MC, Poole EM, Ramus SJ, Risch HA, Rosen B, Rossing MA, Rothstein JH, Rudolph A, Runnebaum IB, Rzepecka IK, Salvesen HB, Schildkraut JM, Schwaab I, Shu XO, Shvetsov YB, Siddiqui N, Sieh W, Song H, Southey MC, Sucheston-Campbell LE, Tangen IL, Teo SH, Terry KL, Thompson PJ, Timorek A, Tsai YY, Tworoger SS, van Altena AM, Van Nieuwenhuysen E, Vergote I, Vierkant RA, Wang-Gohrke S, Walsh C, Wentzensen N, Whittemore AS, Wicklund KG, Wilkens LR, Woo YL, Wu X, Wu A, Yang H, Zheng W, Ziogas A, Sellers TA, Monteiro AN, Freedman ML, Gayther SA, Pharoah PD. Network-Based Integration of GWAS and Gene Expression Identifies a HOX-Centric Network Associated with Serous Ovarian Cancer Risk. Cancer Epidemiology Biomarkers & Prevention 2015, 24: 1574-1584. PMID: 26209509, PMCID: PMC4592449, DOI: 10.1158/1055-9965.epi-14-1270.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesTF genesGenome-wide significant risk lociAssociation studiesTranscription factor genesNetwork of genesPutative target genesSignificant risk lociGene-level testsIndependent association studiesContext-specific datasetsSerous ovarian cancer riskCancer Genome AtlasLocus functionsTarget genesFactor genesEnrichment analysisRisk lociGene expressionTop signalsGenesMicroarray datasetsNetworks AssociatedEOC tumorsGenome Atlas
2014
Risk Factors for Ovarian Cancers With and Without Microsatellite Instability
Segev Y, Pal T, Rosen B, McLaughlin JR, Sellers TA, Risch HA, Zhang S, Sun P, Narod SA, Schildkraut J. Risk Factors for Ovarian Cancers With and Without Microsatellite Instability. International Journal Of Gynecological Cancer 2014, 24: 664-669. PMID: 24755492, DOI: 10.1097/igc.0000000000000134.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinoma, Clear CellAdenocarcinoma, MucinousBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsCanadaCystadenocarcinoma, SerousDNA, NeoplasmEndometrial NeoplasmsFemaleGenetic Predisposition to DiseaseHumansMicrosatellite InstabilityMicrosatellite RepeatsMiddle AgedMutationNeoplasm StagingOvarian NeoplasmsPrognosisRisk FactorsSyndromeUnited StatesConceptsOvarian cancer patientsOral contraceptive useBody mass indexEpithelial ovarian cancerOvarian cancerCancer patientsHistologic subtypeMass indexTubal ligationRisk factorsBRCA2 mutationsContraceptive usePast oral contraceptive usePrimary epithelial ovarian cancerOvarian cancer risk factorsBRCA1 mutationsNational Cancer Institute criteriaProtective factorsSpecific histologic subtypesCancer risk factorsPopulation-based studyMSI-high cancersCases of cancerMSI-high tumorsBRCA2 mutation status
2013
Risk Factors for Ovarian Cancers With and Without Microsatellite Instability
Segev Y, Pal T, Rosen B, McLaughlin JR, Sellers TA, Risch HA, Zhang S, Ping S, Narod SA, Schildkraut J. Risk Factors for Ovarian Cancers With and Without Microsatellite Instability. International Journal Of Gynecological Cancer 2013, 23: 1010. PMID: 23748177, PMCID: PMC3740723, DOI: 10.1097/igc.0b013e31829a5527.Peer-Reviewed Original ResearchConceptsOvarian cancer patientsOral contraceptive useBody mass indexEpithelial ovarian cancerOvarian cancerCancer patientsHistologic subtypeMass indexHistologic findingsTubal ligationRisk factorsContraceptive usePast oral contraceptive usePrimary epithelial ovarian cancerOvarian cancer risk factorsBRCA1 mutationsNational Cancer Institute criteriaProtective factorsDifferent histologic findingsSpecific histologic subtypesCancer risk factorsPopulation-based studyMSI-high cancersMSI-high tumorsBRCA2 mutation statusGWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer
Pharoah PD, Tsai YY, Ramus SJ, Phelan CM, Goode EL, Lawrenson K, Buckley M, Fridley BL, Tyrer JP, Shen H, Weber R, Karevan R, Larson MC, Song H, Tessier DC, Bacot F, Vincent D, Cunningham JM, Dennis J, Dicks E, Aben K, Anton-Culver H, Antonenkova N, Armasu S, Baglietto L, Bandera E, Beckmann M, Birrer M, Bloom G, Bogdanova N, Brenton J, Brinton L, Brooks-Wilson A, Brown R, Butzow R, Campbell I, Carney M, Carvalho R, Chang-Claude J, Chen Y, Chen Z, Chow W, Cicek M, Coetzee G, Cook L, Cramer D, Cybulski C, Dansonka-Mieszkowska A, Despierre E, Doherty J, Dörk T, du Bois A, Dürst M, Eccles D, Edwards R, Ekici A, Fasching P, Fenstermacher D, Flanagan J, Gao Y, Garcia-Closas M, Gentry-Maharaj A, Giles G, Gjyshi A, Gore M, Gronwald J, Guo Q, Halle M, Harter P, Hein A, Heitz F, Hillemanns P, Hoatlin M, Høgdall E, Høgdall C, Hosono S, Jakubowska A, Jensen A, Kalli K, Karlan B, Kelemen L, Kiemeney L, Kjaer S, Konecny G, Krakstad C, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le N, Lee N, Lee J, Leminen A, Lim B, Lissowska J, Lubiński J, Lundvall L, Lurie G, Massuger L, Matsuo K, McGuire V, McLaughlin J, Menon U, Modugno F, Moysich K, Nakanishi T, Narod S, Ness R, Nevanlinna H, Nickels S, Noushmehr H, Odunsi K, Olson S, Orlow I, Paul J, Pejovic T, Pelttari L, Permuth-Wey J, Pike M, Poole E, Qu X, Risch H, Rodriguez-Rodriguez L, Rossing M, Rudolph A, Runnebaum I, Rzepecka I, Salvesen H, Schwaab I, Severi G, Shen H, Shridhar V, Shu X, Sieh W, Southey M, Spellman P, Tajima K, Teo S, Terry K, Thompson P, Timorek A, Tworoger S, van Altena A, van den Berg D, Vergote I, Vierkant R, Vitonis A, Wang-Gohrke S, Wentzensen N, Whittemore A, Wik E, Winterhoff B, Woo Y, Wu A, Yang H, Zheng W, Ziogas A, Zulkifli F, Goodman M, Hall P, Easton D, Pearce C, Berchuck A, Chenevix-Trench G, Iversen E, Monteiro A, Gayther S, Schildkraut J, Sellers T. GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. Nature Genetics 2013, 45: 362-370. PMID: 23535730, PMCID: PMC3693183, DOI: 10.1038/ng.2564.Peer-Reviewed Original ResearchMeSH KeywordsCase-Control StudiesCooperative BehaviorCystadenocarcinoma, SerousFemaleGene-Environment InteractionGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMeta-Analysis as TopicNeoplasm InvasivenessOvarian NeoplasmsPolymorphism, Single NucleotideRisk FactorsConceptsOvarian cancer susceptibility lociSusceptibility lociGenome-wide association studiesNew susceptibility lociCancer susceptibility lociRegulatory regionsAssociation studiesMolecular analysisLociDisease mechanismsOvarian Cancer Association ConsortiumOvarian cancerGWASGenesEpithelial ovarian cancerConsortium
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 factors