2018
rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology
Kelemen LE, Earp M, Fridley BL, Chenevix-Trench G, Group O, Fasching PA, Beckmann MW, Ekici AB, Hein A, Lambrechts D, Lambrechts S, Van Nieuwenhuysen E, Vergote I, Rossing MA, Doherty JA, Chang-Claude J, Behrens S, Moysich KB, Cannioto R, Lele S, Odunsi K, Goodman MT, Shvetsov YB, Thompson PJ, Wilkens LR, Dörk T, Antonenkova N, Bogdanova N, Hillemanns P, Runnebaum IB, du Bois A, Harter P, Heitz F, Schwaab I, Butzow R, Pelttari LM, Nevanlinna H, Modugno F, Edwards RP, Kelley JL, Ness RB, Karlan BY, Lester J, Orsulic S, Walsh C, Kjaer SK, Jensen A, Cunningham JM, Vierkant RA, Giles GG, Bruinsma F, Southey MC, Hildebrandt MAT, Liang D, Lu K, Wu X, Sellers TA, Levine DA, Schildkraut JM, Iversen ES, Terry KL, Cramer DW, Tworoger SS, Poole EM, Bandera EV, Olson SH, Orlow I, Thomsen L, Bjorge L, Krakstad C, Tangen IL, Kiemeney LA, Aben KKH, Massuger LFAG, van Altena AM, Pejovic T, Bean Y, Kellar M, Cook LS, Le ND, Brooks-Wilson A, Gronwald J, Cybulski C, Jakubowska A, Lubiński J, Wentzensen N, Brinton LA, Lissowska J, Hogdall E, Engelholm SA, Hogdall C, Lundvall L, Nedergaard L, Pharoah PDP, Dicks E, Song H, Tyrer JP, McNeish I, Siddiqui N, Carty K, Glasspool R, Paul J, Campbell IG, Eccles D, Whittemore AS, McGuire V, Rothstein JH, Sieh W, Narod SA, Phelan CM, McLaughlin JR, Risch HA, Anton-Culver H, Ziogas A, Menon U, Gayther SA, Gentry-Maharaj A, Ramus SJ, Wu AH, Pearce CL, Lee AW, Pike MC, Kupryjanczyk J, Podgorska A, Plisiecka-Halasa J, Sawicki W, Goode EL, Berchuck A, Consortium O. rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology. International Journal Of Molecular Sciences 2018, 19: 2473. PMID: 30134598, PMCID: PMC6163881, DOI: 10.3390/ijms19092473.Peer-Reviewed Original ResearchAdenocarcinoma, MucinousCase-Control StudiesFemaleGene Expression Regulation, NeoplasticGenetic Association StudiesHumansHydro-LyasesLogistic ModelsMiddle AgedOdds RatioOvarian NeoplasmsPolymorphism, Single NucleotideProteinsQuantitative Trait LociRiskRNA, AntisenseSignal TransductionThymidylate SynthaseVariants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility
Earp M, Tyrer JP, Winham SJ, Lin HY, Chornokur G, Dennis J, Aben KKH, Anton‐Culver H, Antonenkova N, Bandera EV, Bean YT, Beckmann MW, Bjorge L, Bogdanova N, Brinton LA, Brooks-Wilson A, Bruinsma F, Bunker CH, Butzow R, Campbell IG, Carty K, Chang-Claude J, Cook LS, Cramer DW, Cunningham JM, Cybulski C, Dansonka-Mieszkowska A, Despierre E, Doherty JA, Dörk T, du Bois A, Dürst M, Easton DF, Eccles DM, Edwards RP, Ekici AB, Fasching PA, Fridley BL, Gentry-Maharaj A, Giles GG, Glasspool R, Goodman MT, Gronwald J, Harter P, Hein A, Heitz F, Hildebrandt MAT, Hillemanns P, Hogdall CK, Høgdall E, Hosono S, Iversen ES, Jakubowska A, Jensen A, Ji BT, Jung AY, Karlan BY, Kellar M, Kiemeney LA, Lim B, Kjaer SK, Krakstad C, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le ND, Lele S, Lester J, Levine DA, Li Z, Liang D, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger LFAG, Matsuo K, McGuire V, McLaughlin JR, McNeish I, Menon U, Milne RL, Modugno F, Moysich KB, Ness RB, Nevanlinna H, Odunsi K, Olson SH, Orlow I, Orsulic S, Paul J, Pejovic T, Pelttari LM, Permuth JB, Pike MC, Poole EM, Rosen B, Rossing MA, Rothstein JH, Runnebaum IB, Rzepecka IK, Schernhammer E, Schwaab I, Shu XO, Shvetsov YB, Siddiqui N, Sieh W, Song H, Southey MC, Spiewankiewicz B, Sucheston-Campbell L, Tangen IL, Teo SH, Terry KL, Thompson PJ, Thomsen L, Tworoger SS, van Altena AM, Vergote I, Thomsen L, Vierkant RA, Walsh CS, Wang-Gohrke S, Wentzensen N, Whittemore AS, Wicklund KG, Wilkens LR, Woo YL, Wu AH, Wu X, Xiang YB, Yang H, Zheng W, Ziogas A, Lee AW, Pearce CL, Berchuck A, Schildkraut JM, Ramus SJ, Monteiro ANA, Narod SA, Sellers TA, Gayther SA, Kelemen LE, Chenevix-Trench G, Risch HA, Pharoah PDP, Goode EL, Phelan CM. Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility. PLOS ONE 2018, 13: e0197561. PMID: 29979793, PMCID: PMC6034790, DOI: 10.1371/journal.pone.0197561.Peer-Reviewed Original ResearchConceptsFunctional annotationSmall GTPasesExpression quantitative trait lociPotential transcriptional regulatory functionTranscriptional regulatory functionQuantitative trait lociEpithelial ovarian cancer susceptibilitySmall GTPase genesSuper-enhancer regionsVesicle transportTrait lociGTPase genesSmall GTPSignal transductionCell motilityGenotype arraysRegulatory functionsNormal ovarian physiologyOvarian cancer susceptibilityVariants of interestRisk variantsEOC riskGermline variationGenesGTPases
2016
Telomere structure and maintenance gene variants and risk of five cancer types
Karami S, Han Y, Pande M, Cheng I, Rudd J, Pierce BL, Nutter EL, Schumacher FR, Kote‐Jarai Z, Lindstrom S, Witte JS, Fang S, Han J, Kraft P, Hunter DJ, Song F, Hung RJ, McKay J, Gruber SB, Chanock SJ, Risch A, Shen H, Haiman CA, Boardman L, Ulrich CM, Casey G, Peters U, Al Olama A, Berchuck A, Berndt SI, Bezieau S, Brennan P, Brenner H, Brinton L, Caporaso N, Chan AT, Chang‐Claude J, Christiani DC, Cunningham JM, Easton D, Eeles RA, Eisen T, Gala M, Gallinger SJ, Gayther SA, Goode EL, Grönberg H, Henderson BE, Houlston R, Joshi AD, Küry S, Landi MT, Le Marchand L, Muir K, Newcomb PA, Permuth‐Wey J, Pharoah P, Phelan C, Potter JD, Ramus SJ, Risch H, Schildkraut J, Slattery ML, Song H, Wentzensen N, White E, Wiklund F, Zanke BW, Sellers TA, Zheng W, Chatterjee N, Amos CI, Doherty JA, on behalf of GECCO and the GAME‐ON Network: CORECT D. Telomere structure and maintenance gene variants and risk of five cancer types. International Journal Of Cancer 2016, 139: 2655-2670. PMID: 27459707, PMCID: PMC5198774, DOI: 10.1002/ijc.30288.Peer-Reviewed Original ResearchConceptsLung cancerCancer riskProstate cancerCancer typesLung cancer riskInfluences cancer riskSNP minor allelesIndependent associationCancer casesColorectalMultiple cancersCancerProstateBreastMinor alleleOvarianGene variantsEuropean descentRiskNovel findingsReverse transcriptaseTelomere dysfunctionIndependent SNPsAssociationCap chromosome
2015
Polymorphisms in Genes of Relevance for Oestrogen and Oxytocin Pathways and Risk of Barrett’s Oesophagus and Oesophageal Adenocarcinoma: A Pooled Analysis from the BEACON Consortium
Lagergren K, Ek WE, Levine D, Chow WH, Bernstein L, Casson AG, Risch HA, Shaheen NJ, Bird NC, Reid BJ, Corley DA, Hardie LJ, Wu AH, Fitzgerald RC, Pharoah P, Caldas C, Romero Y, Vaughan TL, MacGregor S, Whiteman D, Westberg L, Nyren O, Lagergren J. Polymorphisms in Genes of Relevance for Oestrogen and Oxytocin Pathways and Risk of Barrett’s Oesophagus and Oesophageal Adenocarcinoma: A Pooled Analysis from the BEACON Consortium. PLOS ONE 2015, 10: e0138738. PMID: 26406593, PMCID: PMC4583498, DOI: 10.1371/journal.pone.0138738.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaADP-ribosyl Cyclase 1AromataseBarrett EsophagusEsophageal NeoplasmsEstrogen Receptor alphaEstrogen Receptor betaFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHumansMaleMembrane GlycoproteinsOxytocinPolymorphism, Single NucleotideReceptors, OxytocinSex FactorsConceptsKey genesGenetic variantsGenes of relevanceGene-based approachesAssociation studiesGenesOxytocin pathwaysGenetic epidemiological studiesEstrogen receptor alphaRisk of OACRisk of BEPathwayReceptor alphaOesophageal adenocarcinomaBarrett's esophagusNorth AmericaReplicationPolymorphismEstrogen pathwayVariantsStrong male predominanceOAC patientsMalesBO patientsMale predominanceCis-eQTL analysis and functional validation of candidate susceptibility genes for high-grade serous ovarian cancer
Lawrenson K, Li Q, Kar S, Seo JH, Tyrer J, Spindler TJ, Lee J, Chen Y, Karst A, Drapkin R, Aben KK, 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, Chenevix-Trench G, 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, Kruger Kjaer S, Kelemen L, Kellar M, Kelley J, Kiemeney L, Krakstad C, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le N, Lee A, 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, Nevanlinna H, 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, Ramus S, 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, 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, Monteiro A, Pharoah P, Gayther S, Freedman M. Cis-eQTL analysis and functional validation of candidate susceptibility genes for high-grade serous ovarian cancer. Nature Communications 2015, 6: 8234. PMID: 26391404, PMCID: PMC4580986, DOI: 10.1038/ncomms9234.Peer-Reviewed Original ResearchMeSH KeywordsCarcinoma, Ovarian EpithelialCell Line, TumorFemaleGene Expression Regulation, NeoplasticGenetic Association StudiesGenetic Predisposition to DiseaseHomeodomain ProteinsHumansNeoplasm ProteinsNeoplasms, Glandular and EpithelialNuchal CordOvarian NeoplasmsProtein BindingQuantitative Trait LociConceptsCandidate susceptibility genesExpression quantitative trait loci (eQTL) analysisQuantitative trait locus (QTL) analysisChromosome conformation captureGenome-wide association studiesSusceptibility genesCis-eQTL analysisHigh-grade serous epithelial ovarian cancerAnchorage-independent growthConformation captureHOXD9 promoterTranscriptomic profilingCausal variantsFunctional validationRisk lociLocus analysisAssociation studiesBroader roleFunctional roleGenesContact inhibitionRisk variantsPopulation-doubling timePrecursor cellsHOXD9Shared genetics underlying epidemiological association between endometriosis and ovarian cancer
Lu Y, Cuellar-Partida G, Painter JN, Nyholt DR, Study A, Consortium T, Morris A, Fasching P, Hein A, Burghaus S, Beckmann M, Lambrechts D, Van Nieuwenhuysen E, Vergote I, Vanderstichele A, Doherty J, Rossing M, Wicklund K, Chang-Claude J, Eilber U, Rudolph A, Wang-Gohrke S, Goodman M, Bogdanova N, Dörk T, Dürst M, Hillemanns P, Runnebaum I, Antonenkova N, Butzow R, Leminen A, Nevanlinna H, Pelttari L, Edwards R, Kelley J, Modugno F, Moysich K, Ness R, Cannioto R, Høgdall E, Jensen A, Giles G, Bruinsma F, Kjaer S, Hildebrandt M, Liang D, Lu K, Wu X, Bisogna M, Dao F, Levine D, Cramer D, Terry K, Tworoger S, Missmer S, Bjorge L, Salvesen H, Kopperud R, Bischof K, Aben K, Kiemeney L, Massuger L, Brooks-Wilson A, Olson S, McGuire V, Rothstein J, Sieh W, Whittemore A, Cook L, Le N, Gilks C, Gronwald J, Jakubowska A, Lubiński J, Gawełko J, Song H, Tyrer J, Wentzensen N, Brinton L, Trabert B, Lissowska J, Mclaughlin J, Narod S, Phelan C, Anton-Culver H, Ziogas A, Eccles D, Gayther S, Gentry-Maharaj A, Menon U, Ramus S, Wu A, Dansonka-Mieszkowska A, Kupryjanczyk J, Timorek A, Szafron L, Cunningham J, Fridley B, Winham S, Bandera E, Poole E, Morgan T, Risch H, Goode E, Schildkraut J, Webb P, Pearce C, Berchuck A, Pharoah P, Montgomery G, Zondervan K, Chenevix-Trench G, MacGregor S, Consortium T, Anderson C, Gordon S, Guo Q, Henders A, Lambert A, Lee S, Kraft P, Kennedy S, Macgregor S, Martin N, Missmer S, Montgomery G, Morris A, Nyholt D, Painter J, Roseman F, Treloar S, Visscher P, Wallace L, Zondervan K. Shared genetics underlying epidemiological association between endometriosis and ovarian cancer. Human Molecular Genetics 2015, 24: 5955-5964. PMID: 26231222, PMCID: PMC4581608, DOI: 10.1093/hmg/ddv306.Peer-Reviewed Original ResearchMeSH KeywordsEndometriosisFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHumansOligonucleotide Array Sequence AnalysisOvarian NeoplasmsPolymorphism, Single NucleotideRiskConceptsOvarian cancerEpidemiological associationGenetic correlationsSerous carcinomaFull genome coverageStrong genetic correlationLow-grade serous carcinomaHigh-grade serous carcinomaGenetic susceptibility lociClear cell carcinomaPolygenic architectureWeak genetic correlationsOvarian cancer datasetSusceptibility lociOvarian cancer susceptibilityPolygenic effectsCertain histotypesMucinous typeCell carcinomaEndometrioid carcinomaGenetic variantsFallopian tubeOvarian adenocarcinomaClear cellsEndometriosisCommon Genetic Variation In Cellular Transport Genes and Epithelial Ovarian Cancer (EOC) Risk
Chornokur G, Lin HY, Tyrer JP, Lawrenson K, Dennis J, Amankwah EK, Qu X, Tsai YY, Jim HS, Chen Z, Chen AY, Permuth-Wey J, Aben K, Anton-Culver H, Antonenkova N, Bruinsma F, Bandera EV, Bean YT, Beckmann MW, Bisogna M, Bjorge L, Bogdanova N, Brinton LA, Brooks-Wilson A, Bunker CH, Butzow R, Campbell IG, Carty K, Chang-Claude J, Cook LS, Cramer DW, Cunningham JM, Cybulski C, Dansonka-Mieszkowska A, du Bois A, Despierre E, Dicks E, Doherty JA, Dörk T, Dürst M, Easton DF, Eccles DM, Edwards RP, Ekici AB, Fasching PA, Fridley BL, Gao YT, Gentry-Maharaj A, Giles GG, Glasspool R, Goodman MT, Gronwald J, Harrington P, Harter P, Hein A, Heitz F, Hildebrandt MA, Hillemanns P, Hogdall CK, Hogdall E, Hosono S, Jakubowska A, Jensen A, Ji BT, Karlan BY, Kelemen LE, Kellar M, Kiemeney LA, Krakstad C, Kjaer SK, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le ND, Lee AW, Lele S, Leminen A, Lester J, Levine DA, Liang D, Lim BK, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger LF, Matsuo K, McGuire V, McLaughlin JR, McNeish I, Menon U, Milne RL, Modugno F, Moysich KB, Ness RB, Nevanlinna H, Eilber U, Odunsi K, Olson SH, Orlow I, Orsulic S, Weber RP, Paul J, Pearce CL, Pejovic T, Pelttari LM, Pike MC, Poole EM, Risch HA, Rosen B, Rossing MA, Rothstein JH, Rudolph A, Runnebaum IB, Rzepecka IK, Salvesen HB, Schernhammer E, Schwaab I, Shu XO, Shvetsov YB, Siddiqui N, Sieh W, Song H, Southey MC, Spiewankiewicz B, Sucheston L, Teo SH, Terry KL, Thompson PJ, Thomsen L, Tangen IL, Tworoger SS, van Altena AM, Vierkant RA, Vergote I, Walsh CS, Wang-Gohrke S, Wentzensen N, Whittemore AS, Wicklund KG, Wilkens LR, Wu AH, Wu X, Woo YL, Yang H, Zheng W, Ziogas A, Hasmad HN, Berchuck A, , Iversen E, Schildkraut J, Ramus S, Goode E, Monteiro A, Gayther S, Narod S, Pharoah P, Sellers T, Phelan C. Common Genetic Variation In Cellular Transport Genes and Epithelial Ovarian Cancer (EOC) Risk. PLOS ONE 2015, 10: e0128106. PMID: 26091520, PMCID: PMC4474865, DOI: 10.1371/journal.pone.0128106.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAsianBiological TransportBlack or African AmericanCarcinoma, Ovarian EpithelialCarrier ProteinsCase-Control StudiesFemaleGenetic Association StudiesGenetic Predisposition to DiseaseGenetic VariationHumansNeoplasms, Glandular and EpithelialOdds RatioOvarian NeoplasmsPolymorphism, Single NucleotideRiskConceptsCollaborative Oncological Gene-environment StudyTransport genesDNA damageCellular transport processesHallmarks of cancerCommon genetic variationGenetic variationGenome ProjectReactive oxygen speciesCancer genesAberrant accumulationOvarian Cancer Association ConsortiumGenesSNP analysisUncontrolled proliferationSNPsAberrant expressionOxygen speciesDNA samplesSmall moleculesGene variantsSLC39A11Gene-environment studiesWhite European subjectsEpithelial ovarian cancer
2014
Risk of Ovarian Cancer and the NF-κB Pathway: Genetic Association with IL1A and TNFSF10
Charbonneau B, Block MS, Bamlet WR, Vierkant RA, Kalli KR, Fogarty Z, Rider DN, Sellers TA, Tworoger SS, Poole E, Risch HA, Salvesen HB, Kiemeney LA, Baglietto L, Giles GG, Severi G, Trabert B, Wentzensen N, Chenevix-Trench G, group F, Whittemore AS, Sieh W, Chang-Claude J, Bandera EV, Orlow I, Terry K, Goodman MT, Thompson PJ, Cook LS, Rossing MA, Ness RB, Narod SA, Kupryjanczyk J, Lu K, Butzow R, Dörk T, Pejovic T, Campbell I, Le ND, Bunker CH, Bogdanova N, Runnebaum IB, Eccles D, Paul J, Wu AH, Gayther SA, Hogdall E, Heitz F, Kaye SB, Karlan BY, Anton-Culver H, Gronwald J, Hogdall CK, Lambrechts D, Fasching PA, Menon U, Schildkraut J, Pearce CL, Levine DA, Kjaer SK, Cramer D, Flanagan JM, Phelan CM, Brown R, Massuger LF, Song H, Doherty JA, Krakstad C, Liang D, Odunsi K, Berchuck A, Jensen A, Lubiński J, Nevanlinna H, Bean YT, Lurie G, Ziogas A, Walsh C, Despierre E, Brinton L, Hein A, Rudolph A, Dansonka-Mieszkowska A, Olson SH, Harter P, Tyrer J, Vitonis AF, Brooks-Wilson A, Aben KK, Pike MC, Ramus SJ, Wik E, Cybulski C, Lin J, Sucheston L, Edwards R, McGuire V, Lester J, du Bois A, Lundvall L, Wang-Gohrke S, Szafron LM, Lambrechts S, Yang H, Beckmann MW, Pelttari LM, Van Altena AM, van den Berg D, Halle MK, Gentry-Maharaj A, Schwaab I, Chandran U, Menkiszak J, Ekici AB, Wilkens LR, Leminen A, Modugno F, Friel G, Rothstein JH, Vergote I, Garcia-Closas M, Hildebrandt MA, Sobiczewski P, Kelemen LE, Pharoah PD, Moysich K, Knutson KL, Cunningham JM, Fridley BL, Goode EL. Risk of Ovarian Cancer and the NF-κB Pathway: Genetic Association with IL1A and TNFSF10. Cancer Research 2014, 74: 852-861. PMID: 24272484, PMCID: PMC3946482, DOI: 10.1158/0008-5472.can-13-1051.Peer-Reviewed Original ResearchConceptsOvarian cancerNF-κB pathwaySingle nucleotide polymorphismsRisk factorsClear cell ovarian cancerEpidemiologic risk factorsOvarian cancer riskOvarian Cancer Association ConsortiumOvarian cancer associationRisk of endometriosisAlters riskBorderline tumorsClear cellsInterleukin-1αMissense single nucleotide polymorphismCancer riskProinflammatory genesCancer associationNF-κBCancerImportant mediatorDistinct genetic etiologiesControl casesExact mechanismGenotype analysis