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 genesNo Association Between Vitamin D Status and Risk of Barrett's Esophagus or Esophageal Adenocarcinoma: A Mendelian Randomization Study
Dong J, Gharahkhani P, Chow WH, Gammon MD, Liu G, Caldas C, Wu AH, Ye W, Onstad L, Anderson LA, Bernstein L, Pharoah PD, Risch HA, Corley DA, Fitzgerald RC, Consortium S, Iyer PG, Reid BJ, Lagergren J, Shaheen NJ, Vaughan TL, MacGregor S, Love S, Palles C, Tomlinson I, Gockel I, May A, Gerges C, Anders M, Böhmer AC, Becker J, Kreuser N, Thieme R, Noder T, Venerito M, Veits L, Schmidt T, Schmidt C, Izbicki JR, Hölscher AH, Lang H, Lorenz D, Schumacher B, Mayershofer R, Vashist Y, Ott K, Vieth M, Weismüller J, Nöthen MM, Moebus S, Knapp M, Peters WHM, Neuhaus H, Rösch T, Ell C, Jankowski J, Schumacher J, Neale RE, Whiteman DC, Thrift AP. No Association Between Vitamin D Status and Risk of Barrett's Esophagus or Esophageal Adenocarcinoma: A Mendelian Randomization Study. Clinical Gastroenterology And Hepatology 2019, 17: 2227-2235.e1. PMID: 30716477, PMCID: PMC6675666, DOI: 10.1016/j.cgh.2019.01.041.Peer-Reviewed Original ResearchConceptsRisk of BEMendelian randomization studyBarrett's esophagusEsophageal adenocarcinomaInverse variance weightingRandomization studyRisk of EACHydroxy vitamin DVitamin D statusVariance weightingEsophageal Adenocarcinoma ConsortiumD statusEAC riskVitamin DOdds ratioBE riskEsophagusAbstractTextL increaseSingle nucleotide polymorphismsConflicting resultsAdenocarcinomaPatientsSNP associationsRisk
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
2011
LIN28B 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, NeoplasmDNA-Binding ProteinsFemaleGenetic 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
2008
Uptake of clinical genetic testing for ovarian cancer in Ontario: A population-based study
Metcalfe KA, Fan I, McLaughlin J, Risch HA, Rosen B, Murphy J, Bradley L, Armel S, Sun P, Narod SA. Uptake of clinical genetic testing for ovarian cancer in Ontario: A population-based study. Gynecologic Oncology 2008, 112: 68-72. PMID: 19019415, PMCID: PMC3074978, DOI: 10.1016/j.ygyno.2008.10.007.Peer-Reviewed Original ResearchConceptsInvasive ovarian cancerClinical genetic testingOvarian cancerGenetic testingGenetic test resultsBlood samplesPositive genetic test resultOntario Cancer RegistryPopulation-based studyEpithelial ovarian cancerProportion of womenCancer RegistryRisk factorsBRCA2 mutationsClinical testingCancerWomenBRCA2BRCA1Small proportionPrevious testingMutationsPatientsTestingRegistryCyclin E Overexpression Relates to Ovarian Cancer Histology but not to Risk Factors
Risch HA. Cyclin E Overexpression Relates to Ovarian Cancer Histology but not to Risk Factors. Cancer Epidemiology Biomarkers & Prevention 2008, 17: 1841-1841. PMID: 18628442, DOI: 10.1158/1055-9965.epi-08-0271.Peer-Reviewed Original Research