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-Binding ProteinsDNA, NeoplasmFemaleGenetic 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
2017
Enrichment 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
2015
Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci
Coetzee S, Shen H, Hazelett D, Lawrenson K, Kuchenbaecker K, Tyrer J, Rhie S, Levanon K, Karst A, Drapkin R, Ramus S, Consortium T, Couch F, Offit K, Chenevix-Trench G, Monteiro A, Antoniou A, Freedman M, Coetzee G, Pharoah P, Noushmehr H, Gayther S, Consortium T, Tyrer J, Anton-Culver H, Antonenkova N, Baker H, Bandera E, Bean Y, Beckmann M, Berchuck A, Bisogna M, Bjorge L, Bogdanova N, Brinton L, Brooks-Wilson A, Bruinsma F, Butzow R, Campbell I, Carty K, Chang-Claude J, Chen A, Chen Z, Cook L, Cramer D, Cunningham J, Cybulski C, Dansonka-Mieszkowska A, Dennis J, Dicks E, Doherty J, Dörk T, du Bois A, Dürst M, Eccles D, Easton D, Edwards R, Eilber U, Ekici A, Fasching P, Fridley B, Gao Y, Gentry-Maharaj A, Giles G, Glasspool R, Goode E, Goodman M, Grownwald J, Harrington P, Harter P, Hasmad H, Hein A, Heitz F, Hildebrandt M, Hillemanns P, Hogdall E, Hogdall C, Hosono S, Iversen E, Jakubowska A, James P, Jensen A, Ji B, Karlan B, Kjaer S, Kelemen L, Kellar M, Kelley J, Kiemeney L, Krakstad C, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le N, Lele S, Leminen A, Lester J, Levine D, Liang D, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger L, Matsuo K, McGuire V, McLaughlin J, McNeish I, Menon U, Modugno F, Moysich K, Narod S, Nedergaard L, Ness R, Azmi M, Odunsi K, Olson S, Orlow I, Orsulic S, Weber R, Pearce C, Pejovic T, Pelttari L, Permuth-Wey J, Phelan C, Pike M, Poole E, Risch H, Rosen B, Rossing M, Rothstein J, Rudolph A, Runnebaum I, Rzepecka I, Salvesen H, Schildkraut J, Schwaab I, Sellers T, Shu X, Shvetsov Y, Siddiqui N, Sieh W, Song H, Southey M, Sucheston L, Tangen I, Teo S, Terry K, Thompson P, Timorek A, Tsai Y, Tworoger S, Tyrer J, van Altena A, Van Nieuwenhuysen E, Vergote I, Vierkant R, Wang-Gohrke S, Walsh C, Wentzensen N, Whittemore A, Wicklund K, Wilkens L, Woo Y, Wu X, Wu A, Yang H, Zheng W, Ziogas A. Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci. Human Molecular Genetics 2015, 24: 3595-3607. PMID: 25804953, PMCID: PMC4459387, DOI: 10.1093/hmg/ddv101.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsCell typesOvarian cancer susceptibility lociSusceptibility lociFunctional targetSusceptibility variantsComplex trait geneticsRegulatory DNA elementsMost single nucleotide polymorphismsEpithelial cellsHigh-grade serous ovarian cancerHuman mammary epithelial cellsCancer susceptibility lociRisk single nucleotide polymorphismsMammary epithelial cellsNormal human mammary epithelial cellsRisk-associated single nucleotide polymorphismsDifferent cell typesOvarian surface epithelial cellsWide annotationPrecursor cell typesOpen chromatinRegulatory variationGenetic susceptibility variantsHistone modifications
2013
GWAS 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 cancerConsortiumIdentification 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
2009
A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2
Song H, Ramus SJ, Tyrer J, Bolton KL, Gentry-Maharaj A, Wozniak E, Anton-Culver H, Chang-Claude J, Cramer DW, DiCioccio R, Dörk T, Goode EL, Goodman MT, Schildkraut JM, Sellers T, Baglietto L, Beckmann MW, Beesley J, Blaakaer J, Carney ME, Chanock S, Chen Z, Cunningham JM, Dicks E, Doherty JA, Dürst M, Ekici AB, Fenstermacher D, Fridley BL, Giles G, Gore ME, De Vivo I, Hillemanns P, Hogdall C, Hogdall E, Iversen ES, Jacobs IJ, Jakubowska A, Li D, Lissowska J, Lubiński J, Lurie G, McGuire V, McLaughlin J, Mędrek K, Moorman PG, Moysich K, Narod S, Phelan C, Pye C, Risch H, Runnebaum IB, Severi G, Southey M, Stram DO, Thiel FC, Terry KL, Tsai YY, Tworoger SS, Van Den Berg DJ, Vierkant RA, Wang-Gohrke S, Webb PM, Wilkens LR, Wu AH, Yang H, Brewster W, Ziogas A, Houlston R, Tomlinson I, Whittemore A, Rossing M, Ponder B, Pearce C, Ness R, Menon U, Kjaer S, Gronwald J, Garcia-Closas M, Fasching P, Easton D, Chenevix-Trench G, Berchuck A, Pharoah P, Gayther S. A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. Nature Genetics 2009, 41: 996-1000. PMID: 19648919, PMCID: PMC2844110, DOI: 10.1038/ng.424.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAustraliaBase SequenceCase-Control StudiesChromosome MappingChromosomes, Human, Pair 9Confidence IntervalsEuropeFemaleGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHaplotypesHeterozygoteHomozygoteHumansLinkage DisequilibriumMolecular Sequence DataOdds RatioOvarian NeoplasmsPolymorphism, Single NucleotideRisk FactorsUnited StatesWhite People