2020
Associations between Genetically Predicted Blood Protein Biomarkers and Pancreatic Cancer Risk
Zhu J, Shu X, Guo X, Liu D, Bao J, Milne RL, Giles GG, Wu C, Du M, White E, Risch HA, Malats N, Duell EJ, Goodman PJ, Li D, Bracci P, Katzke V, Neale RE, Gallinger S, Van Den Eeden SK, Arslan AA, Canzian F, Kooperberg C, Freeman L, Scelo G, Visvanathan K, Haiman CA, Le Marchand L, Yu H, Petersen GM, Stolzenberg-Solomon R, Klein AP, Cai Q, Long J, Shu XO, Zheng W, Wu L. Associations between Genetically Predicted Blood Protein Biomarkers and Pancreatic Cancer Risk. Cancer Epidemiology Biomarkers & Prevention 2020, 29: 1501-1508. PMID: 32439797, PMCID: PMC7334065, DOI: 10.1158/1055-9965.epi-20-0091.Peer-Reviewed Original ResearchConceptsPancreatic ductal adenocarcinomaProtein quantitative trait lociQuantitative trait lociRisk variantsBlood protein biomarkersPathway enrichment analysisPotential target genesCancer-related pathwaysPDAC riskProtein biomarkersTrait lociTarget genesPancreatic Cancer Case-Control ConsortiumPancreatic Cancer Cohort ConsortiumEnrichment analysisProteinGenetic instrumentsPancreatic cancer riskProtein levelsGenesPDAC developmentProtein biomarker candidatesRisk factorsDuctal adenocarcinomaLethal malignancyEstimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer
Shuch B, Li S, Risch H, Bindra RS, McGillivray PD, Gerstein M. Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer. Cancer 2020, 126: 3657-3666. PMID: 32413184, PMCID: PMC10316675, DOI: 10.1002/cncr.32914.Peer-Reviewed Original ResearchConceptsFumarate hydrataseExome Aggregation ConsortiumAllele frequenciesFH geneGenome ProjectDifferent world populationsFH alterationsHereditary leiomyomatosisKidney cancer riskCancer penetranceMissense alterationsGenesOverall allele frequencyRare variantsLow penetranceRenal cancerExACKidney cancerCancer riskPenetranceGermline mutationsLethal formWorld populationCancer syndromesAlterationsA Transcriptome-Wide Association Study Identifies Novel Candidate Susceptibility Genes for Pancreatic Cancer
Zhong J, Jermusyk A, Wu L, Hoskins JW, Collins I, Mocci E, Zhang M, Song L, Chung CC, Zhang T, Xiao W, Albanes D, Andreotti G, Arslan AA, Babic A, Bamlet WR, Beane-Freeman L, Berndt S, Borgida A, Bracci PM, Brais L, Brennan P, Bueno-de-Mesquita B, Buring J, Canzian F, Childs EJ, Cotterchio M, Du M, Duell EJ, Fuchs C, Gallinger S, Gaziano JM, Giles GG, Giovannucci E, Goggins M, Goodman GE, Goodman PJ, Haiman C, Hartge P, Hasan M, Helzlsouer KJ, Holly EA, Klein EA, Kogevinas M, Kurtz RJ, LeMarchand L, Malats N, Männistö S, Milne R, Neale RE, Ng K, Obazee O, Oberg AL, Orlow I, Patel AV, Peters U, Porta M, Rothman N, Scelo G, Sesso HD, Severi G, Sieri S, Silverman D, Sund M, Tjønneland A, Thornquist MD, Tobias GS, Trichopoulou A, Van Den Eeden SK, Visvanathan K, Wactawski-Wende J, Wentzensen N, White E, Yu H, Yuan C, Zeleniuch-Jacquotte A, Hoover R, Brown K, Kooperberg C, Risch HA, Jacobs EJ, Li D, Yu K, Shu XO, Chanock SJ, Wolpin BM, Stolzenberg-Solomon RZ, Chatterjee N, Klein AP, Smith JP, Kraft P, Shi J, Petersen GM, Zheng W, Amundadottir LT. A Transcriptome-Wide Association Study Identifies Novel Candidate Susceptibility Genes for Pancreatic Cancer. Journal Of The National Cancer Institute 2020, 112: 1003-1012. PMID: 31917448, PMCID: PMC7566474, DOI: 10.1093/jnci/djz246.Peer-Reviewed Original ResearchConceptsTranscriptome-wide association studyCancer risk lociRisk lociAssociation studiesPancreatic cancer susceptibility lociGene expression prediction modelsNovel candidate susceptibility genesPossible causal genesGenome-wide association studiesGenome-wide associationCancer susceptibility lociCandidate susceptibility genesNormal pancreatic tissue samplesFunctional genesTranscriptome dataCausal genesNovel lociCandidate genesGene expressionSusceptibility lociGenesGenotype dataLociSusceptibility genesDifferent tissuesHepcidin-regulating Iron-metabolism Genes and Pancreatic Ductal Adenocarcinoma: A Pathway Analysis of Genome-wide Association Studies
Julián-Serrano S, Yuan F, Benyamin B, Wheeler W, Amundadottir L, Jacobs E, Kraft P, Li D, Petersen G, Risch H, Wolpin B, Yu K, Klein A, Stolzenberg-Solomon R. Hepcidin-regulating Iron-metabolism Genes and Pancreatic Ductal Adenocarcinoma: A Pathway Analysis of Genome-wide Association Studies. Cancer Epidemiology Biomarkers & Prevention 2020, 29: 692-692. DOI: 10.1158/1055-9965.epi-20-0056.Peer-Reviewed Original ResearchSingle nucleotide polymorphismsAssociation studiesSNP-level associationsGenome-wide association studiesAssociated single-nucleotide polymorphismsAdjacent genomic regionsWide association studyPrevious GWAS studiesIron metabolism genesIron metabolismGenomic regionsTfR1 genePancreatic ductal adenocarcinomaGWAS studiesPancreatic Cancer Case-Control ConsortiumPathway associationsPathway analysisGenesGenetic susceptibilityAdaptive rankRare mutationsAbstract Pancreatic ductal adenocarcinomaCommon variantsPathwayPotential roleTranscriptome‐wide association study of breast cancer risk by estrogen‐receptor status
Feng H, Gusev A, Pasaniuc B, Wu L, Long J, Abu‐full Z, Aittomäki K, Andrulis IL, Anton‐Culver H, Antoniou AC, Arason A, Arndt V, Aronson KJ, Arun BK, Asseryanis E, Auer PL, Azzollini J, Balmaña J, Barkardottir RB, Barnes DR, Barrowdale D, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Białkowska K, Blanco A, Blomqvist C, Boeckx B, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B, Borg A, Brauch H, Brenner H, Briceno I, Broeks A, Brüning T, Burwinkel B, Cai Q, Caldés T, Caligo MA, Campbell I, Canisius S, Campa D, Carter BD, Carter J, Castelao JE, Chang‐Claude J, Chanock SJ, Christiansen H, Chung WK, Claes KBM, Clarke CL, Collaborators G, Collaborators E, Collaborators G, Couch FJ, Cox A, Cross SS, Cybulski C, Czene K, Daly MB, de la Hoya M, De Leeneer K, Dennis J, Devilee P, Diez O, Domchek SM, Dörk T, dos‐Santos‐Silva I, Dunning AM, Dwek M, Eccles DM, Ejlertsen B, Ellberg C, Engel C, Eriksson M, Fasching PA, Fletcher O, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gabrielson M, Ganz PA, Gapstur SM, Garber J, García‐Closas M, García‐Sáenz J, Gaudet MM, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, González‐Neira A, Greene MH, Gronwald J, Guénel P, Haiman CA, Hall P, Hamann U, Hake C, He W, Heyworth J, Hogervorst FBL, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Huang G, Hulick PJ, Humphreys K, Imyanitov EN, Investigators A, Investigators H, Investigators B, Investigators O, Isaacs C, Jakimovska M, Jakubowska A, James P, Janavicius R, Jankowitz RC, John EM, Johnson N, Joseph V, Jung A, Karlan BY, Khusnutdinova E, Kiiski JI, Konstantopoulou I, Kristensen VN, Laitman Y, Lambrechts D, Lazaro C, Leroux D, Leslie G, Lester J, Lesueur F, Lindor N, Lindström S, Lo W, Loud JT, Lubiński J, Makalic E, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martens JWM, Martinez ME, Matricardi L, Maurer T, Mavroudis D, McGuffog L, Meindl A, Menon U, Michailidou K, Kapoor PM, Miller A, Montagna M, Moreno F, Moserle L, Mulligan AM, Muranen TA, Nathanson KL, Neuhausen SL, Nevanlinna H, Nevelsteen I, Nielsen FC, Nikitina‐Zake L, Offit K, Olah E, Olopade OI, Olsson H, Osorio A, Papp J, Park‐Simon T, Parsons MT, Pedersen IS, Peixoto A, Peterlongo P, Peto J, Pharoah PDP, Phillips K, Plaseska‐Karanfilska D, Poppe B, Pradhan N, Prajzendanc K, Presneau N, Punie K, Pylkäs K, Radice P, Rantala J, Rashid MU, Rennert G, Risch HA, Robson M, Romero A, Saloustros E, Sandler DP, Santos C, Sawyer EJ, Schmidt MK, Schmidt DF, Schmutzler RK, Schoemaker MJ, Scott RJ, Sharma P, Shu X, Simard J, Singer CF, Skytte A, Soucy P, Southey MC, Spinelli JJ, Spurdle AB, Stone J, Swerdlow AJ, Tapper WJ, Taylor JA, Teixeira MR, Terry MB, Teulé A, Thomassen M, Thöne K, Thull DL, Tischkowitz M, Toland AE, Tollenaar RAEM, Torres D, Truong T, Tung N, Vachon CM, van Asperen C, van den Ouweland A, van Rensburg E, Vega A, Viel A, Vieiro‐Balo P, Wang Q, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Winqvist R, Yang XR, Yannoukakos D, Ziogas A, Milne RL, Easton DF, Chenevix‐Trench G, Zheng W, Kraft P, Jiang X. Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status. Genetic Epidemiology 2020, 44: 442-468. PMID: 32115800, PMCID: PMC7987299, DOI: 10.1002/gepi.22288.Peer-Reviewed Original ResearchConceptsTranscriptome-wide association studyAssociation studiesWide association studyExpression quantitative lociGene expression dataTWAS approachConditional analysisBreast cancer risk genesQuantitative lociGenomic differencesLarge GWASExpression dataCancer risk genesGenesRisk genesBreast cancer genesCancer geneticsEstrogen receptor subtypesGWASOverall breast cancer riskER subtypesGTExSTXBP4Breast cancer geneticsLociFine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
Fachal L, Aschard H, Beesley J, Barnes DR, Allen J, Kar S, Pooley KA, Dennis J, Michailidou K, Turman C, Soucy P, Lemaçon A, Lush M, Tyrer JP, Ghoussaini M, Moradi Marjaneh M, Jiang X, Agata S, Aittomäki K, Alonso MR, Andrulis IL, Anton-Culver H, Antonenkova NN, Arason A, Arndt V, Aronson KJ, Arun BK, Auber B, Auer PL, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Beeghly-Fadiel A, Benitez J, Bermisheva M, Białkowska K, Blanco AM, Blomqvist C, Blot W, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B, Borg A, Bosse K, Brauch H, Brenner H, Briceno I, Brock IW, Brooks-Wilson A, Brüning T, Burwinkel B, Buys SS, Cai Q, Caldés T, Caligo MA, Camp NJ, Campbell I, Canzian F, Carroll JS, Carter BD, Castelao JE, Chiquette J, Christiansen H, Chung WK, Claes KBM, Clarke CL, Collée J, Cornelissen S, Couch F, Cox A, Cross S, Cybulski C, Czene K, Daly M, de la Hoya M, Devilee P, Diez O, Ding Y, Dite G, Domchek S, Dörk T, dos-Santos-Silva I, Droit A, Dubois S, Dumont M, Duran M, Durcan L, Dwek M, Eccles D, Engel C, Eriksson M, Evans D, Fasching P, Fletcher O, Floris G, Flyger H, Foretova L, Foulkes W, Friedman E, Fritschi L, Frost D, Gabrielson M, Gago-Dominguez M, Gambino G, Ganz P, Gapstur S, Garber J, García-Sáenz J, Gaudet M, Georgoulias V, Giles G, Glendon G, Godwin A, Goldberg M, Goldgar D, González-Neira A, Tibiletti M, Greene M, Grip M, Gronwald J, Grundy A, Guénel P, Hahnen E, Haiman C, Håkansson N, Hall P, Hamann U, Harrington P, Hartikainen J, Hartman M, He W, Healey C, Heemskerk-Gerritsen B, Heyworth J, Hillemanns P, Hogervorst F, Hollestelle A, Hooning M, Hopper J, Howell A, Huang G, Hulick P, Imyanitov E, Isaacs C, Iwasaki M, Jager A, Jakimovska M, Jakubowska A, James P, Janavicius R, Jankowitz R, John E, Johnson N, Jones M, Jukkola-Vuorinen A, Jung A, Kaaks R, Kang D, Kapoor P, Karlan B, Keeman R, Kerin M, Khusnutdinova E, Kiiski J, Kirk J, Kitahara C, Ko Y, Konstantopoulou I, Kosma V, Koutros S, Kubelka-Sabit K, Kwong A, Kyriacou K, Laitman Y, Lambrechts D, Lee E, Leslie G, Lester J, Lesueur F, Lindblom A, Lo W, Long J, Lophatananon A, Loud J, Lubiński J, MacInnis R, Maishman T, Makalic E, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez M, Matsuo K, Maurer T, Mavroudis D, Mayes R, McGuffog L, McLean C, Mebirouk N, Meindl A, Miller A, Miller N, Montagna M, Moreno F, Muir K, Mulligan A, Muñoz-Garzon V, Muranen T, Narod S, Nassir R, Nathanson K, Neuhausen S, Nevanlinna H, Neven P, Nielsen F, Nikitina-Zake L, Norman A, Offit K, Olah E, Olopade O, Olsson H, Orr N, Osorio A, Pankratz V, Papp J, Park S, Park-Simon T, Parsons M, Paul J, Pedersen I, Peissel B, Peshkin B, Peterlongo P, Peto J, Plaseska-Karanfilska D, Prajzendanc K, Prentice R, Presneau N, Prokofyeva D, Pujana M, Pylkäs K, Radice P, Ramus S, Rantala J, Rau-Murthy R, Rennert G, Risch H, Robson M, Romero A, Rossing M, Saloustros E, Sánchez-Herrero E, Sandler D, Santamariña M, Saunders C, Sawyer E, Scheuner M, Schmidt D, Schmutzler R, Schneeweiss A, Schoemaker M, Schöttker B, Schürmann P, Scott C, Scott R, Senter L, Seynaeve C, Shah M, Sharma P, Shen C, Shu X, Singer C, Slavin T, Smichkoska S, Southey M, Spinelli J, Spurdle A, Stone J, Stoppa-Lyonnet D, Sutter C, Swerdlow A, Tamimi R, Tan Y, Tapper W, Taylor J, Teixeira M, Tengström M, Teo S, Terry M, Teulé A, Thomassen M, Thull D, Tischkowitz M, Toland A, Tollenaar R, Tomlinson I, Torres D, Torres-Mejía G, Troester M, Truong T, Tung N, Tzardi M, Ulmer H, Vachon C, van Asperen C, van der Kolk L, van Rensburg E, Vega A, Viel A, Vijai J, Vogel M, Wang Q, Wappenschmidt B, Weinberg C, Weitzel J, Wendt C, Wildiers H, Winqvist R, Wolk A, Wu A, Yannoukakos D, Zhang Y, Zheng W, Hunter D, Pharoah P, Chang-Claude J, García-Closas M, Schmidt M, Milne R, Kristensen V, French J, Edwards S, Antoniou A, Chenevix-Trench G, Simard J, Easton D, Kraft P, Dunning A. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. Nature Genetics 2020, 52: 56-73. PMID: 31911677, PMCID: PMC6974400, DOI: 10.1038/s41588-019-0537-1.Peer-Reviewed Original ResearchConceptsCausal variantsTranscription factorsTarget genesActive gene regulatory regionsHigh-confidence target genesGenomic feature annotationsGenome-wide association studiesBreast cancer risk variantsGene regulatory regionsCredible causal variantsGene ontology pathwaysChromatin interactionsFunctional annotationGenomic regionsOntology pathwaysRegulatory regionsGenomic featuresCancer driversGene expressionAssociation studiesAssociation analysisGenesLinkage disequilibriumRisk variantsHigh posterior probability
2019
Analysis of Heritability and Genetic Architecture of Pancreatic Cancer: A PanC4 Study
Chen F, Childs EJ, Mocci E, Bracci P, Gallinger S, Li D, Neale RE, Olson SH, Scelo G, Bamlet WR, Blackford AL, Borges M, Brennan P, Chaffee KG, Duggal P, Hassan MJ, Holly EA, Hung RJ, Goggins MG, Kurtz RC, Oberg AL, Orlow I, Yu H, Petersen GM, Risch H, Klein AP. Analysis of Heritability and Genetic Architecture of Pancreatic Cancer: A PanC4 Study. Cancer Epidemiology Biomarkers & Prevention 2019, 28: 1238-1245. PMID: 31015203, PMCID: PMC6606380, DOI: 10.1158/1055-9965.epi-18-1235.Peer-Reviewed Original ResearchConceptsGWAS dataOverall heritabilityGenome-wide association study dataTotal phenotypic variationAssociation study dataPancreatic cancer susceptibility genesTotal phenotypic varianceAnalysis of heritabilityGWAS lociGenetic architectureFunctional annotationCancer susceptibility genesPhenotypic variationLoci accountPhenotypic varianceLinkage disequilibriumSusceptibility genesHeritabilityCommon variantsIntronic variantsEuropean ancestryGenesRare variants
2018
Agnostic Pathway/Gene Set Analysis of Genome-Wide Association Data Identifies Associations for Pancreatic Cancer
Walsh N, Zhang H, Hyland PL, Yang Q, Mocci E, Zhang M, Childs EJ, Collins I, Wang Z, Arslan AA, Beane-Freeman L, Bracci PM, Brennan P, Canzian F, Duell EJ, Gallinger S, Giles GG, Goggins M, Goodman GE, Goodman PJ, Hung RJ, Kooperberg C, Kurtz RC, Malats N, LeMarchand L, Neale RE, Olson SH, Scelo G, Shu XO, Van Den Eeden SK, Visvanathan K, White E, Zheng W, consortia P, Albanes D, Andreotti G, Babic A, Bamlet W, Berndt S, Borgida A, Boutron-Ruault M, Brais L, Brennan P, Bueno-de-Mesquita B, Buring J, Chaffee K, Chanock S, Cleary S, Cotterchio M, Foretova L, Fuchs C, Gaziano J, Giovannucci E, Goggins M, Hackert T, Haiman C, Hartge P, Hasan M, Helzlsouer K, Herman J, Holcatova I, Holly E, Hoover R, Hung R, Janout V, Klein E, Kurtz R, Laheru D, Lee I, Lu L, Malats N, Mannisto S, Milne R, Oberg A, Orlow I, Patel A, Peters U, Porta M, Real F, Rothman N, Sesso H, Severi G, Silverman D, Strobel O, Sund M, Thornquist M, Tobias G, Wactawski-Wende J, Wareham N, Weiderpass E, Wentzensen N, Wheeler W, Yu H, Zeleniuch-Jacquotte A, Kraft P, Li D, Jacobs E, Petersen G, Wolpin B, Risch H, Amundadottir L, Yu K, Klein A, Stolzenberg-Solomon R. Agnostic Pathway/Gene Set Analysis of Genome-Wide Association Data Identifies Associations for Pancreatic Cancer. Journal Of The National Cancer Institute 2018, 111: 557-567. PMID: 30541042, PMCID: PMC6579744, DOI: 10.1093/jnci/djy155.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesGene setsSingle nucleotide polymorphismsFunctional annotationEpidermal growth factor receptor transactivationExpression quantitative trait loci (eQTL) analysisQuantitative trait locus (QTL) analysisGrowth factor receptor transactivationTop single nucleotide polymorphismsG protein-coupled receptorsGene-set analysisProtein-coupled receptorsIndividual single nucleotide polymorphismsBeta-cell developmentEQTL analysisGWAS dataPCC genesPancreatic ductal adenocarcinomaReceptor transactivationLocus analysisPathway analysisAssociation studiesGenesSusceptibility genesIdentifies associationsA Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk
Lu Y, Beeghly-Fadiel A, Wu L, Guo X, Li B, Schildkraut JM, Im HK, Chen YA, Permuth JB, Reid BM, Teer JK, Moysich KB, Andrulis IL, Anton-Culver H, Arun BK, Bandera EV, Barkardottir RB, Barnes DR, Benitez J, Bjorge L, Brenton J, Butzow R, Caldes T, Caligo MA, Campbell I, Chang-Claude J, Claes KBM, Couch FJ, Cramer DW, Daly MB, deFazio A, Dennis J, Diez O, Domchek SM, Dörk T, Easton DF, Eccles DM, Fasching PA, Fortner RT, Fountzilas G, Friedman E, Ganz PA, Garber J, Giles GG, Godwin AK, Goldgar DE, Goodman MT, Greene MH, Gronwald J, Hamann U, Heitz F, Hildebrandt MAT, Høgdall CK, Hollestelle A, Hulick PJ, Huntsman DG, Imyanitov EN, Isaacs C, Jakubowska A, James P, Karlan BY, Kelemen LE, Kiemeney LA, Kjaer SK, Kwong A, Le ND, Leslie G, Lesueur F, Levine DA, Mattiello A, May T, McGuffog L, McNeish IA, Merritt MA, Modugno F, Montagna M, Neuhausen SL, Nevanlinna H, Nielsen FC, Nikitina-Zake L, Nussbaum RL, Offit K, Olah E, Olopade OI, Olson SH, Olsson H, Osorio A, Park SK, Parsons MT, Peeters PHM, Pejovic T, Peterlongo P, Phelan CM, Pujana MA, Ramus SJ, Rennert G, Risch H, Rodriguez GC, Rodríguez-Antona C, Romieu I, Rookus MA, Rossing MA, Rzepecka IK, Sandler DP, Schmutzler RK, Setiawan VW, Sharma P, Sieh W, Simard J, Singer CF, Song H, Southey MC, Spurdle AB, Sutphen R, Swerdlow AJ, Teixeira MR, Teo SH, Thomassen M, Tischkowitz M, Toland AE, Trichopoulou A, Tung N, Tworoger SS, van Rensburg EJ, Vanderstichele A, Vega A, Edwards DV, Webb PM, Weitzel JN, Wentzensen N, White E, Wolk A, Wu AH, Yannoukakos D, Zorn KK, Gayther SA, Antoniou AC, Berchuck A, Goode EL, Chenevix-Trench G, Sellers TA, Pharoah PDP, Zheng W, Long J. A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk. Cancer Research 2018, 78: 5419-5430. PMID: 30054336, PMCID: PMC6139053, DOI: 10.1158/0008-5472.can-18-0951.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesNovel lociGWAS lociCausal genesMajority of GWASTranscriptome-wide association studyAssociation studiesGenotype-Tissue Expression (GTEx) projectLarge-scale genome-wide association studiesHigh-density genotyping dataPlausible causal genesPotential novel lociNovel genetic lociGWAS-identified variantsRNA sequencing dataDisease susceptibility variantsBonferroni-corrected significance levelTranscriptomic analysisExpression projectGenetic lociSummary statistics dataRisk lociGene expressionSequencing dataGenesIdentification of nine new susceptibility loci for endometrial cancer
O’Mara T, Glubb DM, Amant F, Annibali D, Ashton K, Attia J, Auer PL, Beckmann MW, Black A, Bolla MK, Brauch H, Brenner H, Brinton L, Buchanan DD, Burwinkel B, Chang-Claude J, Chanock SJ, Chen C, Chen MM, Cheng THT, Clarke CL, Clendenning M, Cook LS, Couch FJ, Cox A, Crous-Bous M, Czene K, Day F, Dennis J, Depreeuw J, Doherty JA, Dörk T, Dowdy SC, Dürst M, Ekici AB, Fasching PA, Fridley BL, Friedenreich CM, Fritschi L, Fung J, García-Closas M, Gaudet MM, Giles GG, Goode EL, Gorman M, Haiman CA, Hall P, Hankison SE, Healey CS, Hein A, Hillemanns P, Hodgson S, Hoivik EA, Holliday EG, Hopper JL, Hunter DJ, Jones A, Krakstad C, Kristensen VN, Lambrechts D, Marchand LL, Liang X, Lindblom A, Lissowska J, Long J, Lu L, Magliocco AM, Martin L, McEvoy M, Meindl A, Michailidou K, Milne RL, Mints M, Montgomery GW, Nassir R, Olsson H, Orlow I, Otton G, Palles C, Perry JRB, Peto J, Pooler L, Prescott J, Proietto T, Rebbeck TR, Risch HA, Rogers PAW, Rübner M, Runnebaum I, Sacerdote C, Sarto GE, Schumacher F, Scott RJ, Setiawan VW, Shah M, Sheng X, Shu XO, Southey MC, Swerdlow AJ, Tham E, Trovik J, Turman C, Tyrer JP, Vachon C, VanDen Berg D, Vanderstichele A, Wang Z, Webb PM, Wentzensen N, Werner HMJ, Winham SJ, Wolk A, Xia L, Xiang YB, Yang HP, Yu H, Zheng W, Pharoah PDP, Dunning AM, Kraft P, De Vivo I, Tomlinson I, Easton DF, Spurdle AB, Thompson DJ. Identification of nine new susceptibility loci for endometrial cancer. Nature Communications 2018, 9: 3166. PMID: 30093612, PMCID: PMC6085317, DOI: 10.1038/s41467-018-05427-7.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesCandidate causal genesCausal genesNovel genome-wide significant lociRisk lociEndometrial cancer risk lociGenome-wide significant lociExpression quantitative trait loci (eQTL) analysisQuantitative trait locus (QTL) analysisSignal transduction proteinsCancer risk lociNew susceptibility lociTransduction proteinsSignificant lociLocus analysisNegative regulatorAssociation studiesFemale reproductive tractSusceptibility lociLoci associateLociGenesDecreased expressionReproductive tractRisk allelesVariants 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 variationGenesGTPasesInteractions Between Genetic Variants and Environmental Factors Affect Risk of Esophageal Adenocarcinoma and Barrett’s Esophagus
Dong J, Levine DM, Buas MF, Zhang R, Onstad L, Fitzgerald RC, Consortium S, Corley DA, Shaheen NJ, Lagergren J, Hardie LJ, Reid BJ, Iyer PG, Risch HA, Caldas C, Caldas I, Pharoah PD, Liu G, Gammon MD, Chow WH, Bernstein L, Bird NC, Ye W, Wu AH, Anderson LA, MacGregor S, Whiteman DC, Vaughan TL, Thrift AP. Interactions Between Genetic Variants and Environmental Factors Affect Risk of Esophageal Adenocarcinoma and Barrett’s Esophagus. Clinical Gastroenterology And Hepatology 2018, 16: 1598-1606.e4. PMID: 29551738, PMCID: PMC6162842, DOI: 10.1016/j.cgh.2018.03.007.Peer-Reviewed Original ResearchConceptsRisk of EACGastroesophageal reflux diseaseBarrett's esophagusEsophageal adenocarcinomaGERD symptomsWide association studySmoking statusSymptoms of GERDChromosome 1p34.3Environmental factorsChromosome 2p25.1Association of BMIChromosome 1Borderline significant interactionAssociation studiesGene studiesOesophageal cancer studiesSusceptibility lociCase-control logistic regressionGenesChromosome 15q14Genetic variantsReflux diseaseSmoking historyBMI measurementsGenome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer
Klein AP, Wolpin BM, Risch HA, Stolzenberg-Solomon RZ, Mocci E, Zhang M, Canzian F, Childs EJ, Hoskins JW, Jermusyk A, Zhong J, Chen F, Albanes D, Andreotti G, Arslan AA, Babic A, Bamlet WR, Beane-Freeman L, Berndt SI, Blackford A, Borges M, Borgida A, Bracci PM, Brais L, Brennan P, Brenner H, Bueno-de-Mesquita B, Buring J, Campa D, Capurso G, Cavestro GM, Chaffee KG, Chung CC, Cleary S, Cotterchio M, Dijk F, Duell EJ, Foretova L, Fuchs C, Funel N, Gallinger S, M. Gaziano JM, Gazouli M, Giles GG, Giovannucci E, Goggins M, Goodman GE, Goodman PJ, Hackert T, Haiman C, Hartge P, Hasan M, Hegyi P, Helzlsouer KJ, Herman J, Holcatova I, Holly EA, Hoover R, Hung RJ, Jacobs EJ, Jamroziak K, Janout V, Kaaks R, Khaw KT, Klein EA, Kogevinas M, Kooperberg C, Kulke MH, Kupcinskas J, Kurtz RJ, Laheru D, Landi S, Lawlor RT, Lee I, LeMarchand L, Lu L, Malats N, Mambrini A, Mannisto S, Milne RL, Mohelníková-Duchoňová B, Neale RE, Neoptolemos JP, Oberg AL, Olson SH, Orlow I, Pasquali C, Patel AV, Peters U, Pezzilli R, Porta M, Real FX, Rothman N, Scelo G, Sesso HD, Severi G, Shu XO, Silverman D, Smith JP, Soucek P, Sund M, Talar-Wojnarowska R, Tavano F, Thornquist MD, Tobias GS, Van Den Eeden SK, Vashist Y, Visvanathan K, Vodicka P, Wactawski-Wende J, Wang Z, Wentzensen N, White E, Yu H, Yu K, Zeleniuch-Jacquotte A, Zheng W, Kraft P, Li D, Chanock S, Obazee O, Petersen GM, Amundadottir LT. Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer. Nature Communications 2018, 9: 556. PMID: 29422604, PMCID: PMC5805680, DOI: 10.1038/s41467-018-02942-5.Peer-Reviewed Original ResearchMeSH KeywordsCarcinoma, Pancreatic DuctalDatabases, GeneticGenetic Predisposition to DiseaseGenome-Wide Association StudyHepatocyte Nuclear Factor 1-betaHepatocyte Nuclear Factor 4HumansIntercellular Signaling Peptides and ProteinsIntracellular Signaling Peptides and ProteinsPancreatic NeoplasmsPolymorphism, Single NucleotideProteinsRepressor ProteinsTensinsConceptsNew genome-wide significant lociGenome-wide significant lociExpression quantitative trait loci (eQTL) analysisQuantitative trait locus (QTL) analysisPANcreatic Disease ReseArch (PANDoRA) consortiumNew susceptibility lociPancreatic cancer susceptibility genesCommon susceptibility allelesCancer susceptibility genesSignificant lociPancreatic Cancer Case-Control ConsortiumMolecular supportPancreatic Cancer Cohort ConsortiumLocus analysisSusceptibility lociSusceptibility genesSusceptibility allelesEuropean ancestryNovel associationsLociPancreatic cancerConsortiumGWASGenesAlleles
2017
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
Phelan CM, Kuchenbaecker KB, Tyrer JP, Kar SP, Lawrenson K, Winham SJ, Dennis J, Pirie A, Riggan MJ, Chornokur G, Earp MA, Lyra PC, Lee JM, Coetzee S, Beesley J, McGuffog L, Soucy P, Dicks E, Lee A, Barrowdale D, Lecarpentier J, Leslie G, Aalfs CM, Aben KKH, Adams M, Adlard J, Andrulis IL, Anton-Culver H, Antonenkova N, Aravantinos G, Arnold N, Arun B, Arver B, Azzollini J, Balmaña J, Banerjee S, Barjhoux L, Barkardottir R, Bean Y, Beckmann M, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini M, Birrer M, Bjorge L, Black A, Blankstein K, Blok M, Bodelon C, Bogdanova N, Bojesen A, Bonanni B, Borg Å, Bradbury A, Brenton J, Brewer C, Brinton L, Broberg P, Brooks-Wilson A, Bruinsma F, Brunet J, Buecher B, Butzow R, Buys S, Caldes T, Caligo M, Campbell I, Cannioto R, Carney M, Cescon T, Chan S, Chang-Claude J, Chanock S, Chen X, Chiew Y, Chiquette J, Chung W, Claes K, Conner T, Cook L, Cook J, Cramer D, Cunningham J, D'Aloisio A, Daly M, Damiola F, Damirovna S, Dansonka-Mieszkowska A, Dao F, Davidson R, DeFazio A, Delnatte C, Doheny K, Diez O, Ding Y, Doherty J, Domchek S, Dorfling C, Dörk T, Dossus L, Duran M, Dürst M, Dworniczak B, Eccles D, Edwards T, Eeles R, Eilber U, Ejlertsen B, Ekici A, Ellis S, Elvira M, Eng K, Engel C, Evans D, Fasching P, Ferguson S, Ferrer S, Flanagan J, Fogarty Z, Fortner R, Fostira F, Foulkes W, Fountzilas G, Fridley B, Friebel T, Friedman E, Frost D, Ganz P, Garber J, García M, Garcia-Barberan V, Gehrig A, Gentry-Maharaj A, Gerdes A, Giles G, Glasspool R, Glendon G, Godwin A, Goldgar D, Goranova T, Gore M, Greene M, Gronwald J, Gruber S, Hahnen E, Haiman C, Håkansson N, Hamann U, Hansen T, Harrington P, Harris H, Hauke J, Hein A, Henderson A, Hildebrandt M, Hillemanns P, Hodgson S, Høgdall C, Høgdall E, Hogervorst F, Holland H, Hooning M, Hosking K, Huang R, Hulick P, Hung J, Hunter D, Huntsman D, Huzarski T, Imyanitov E, Isaacs C, Iversen E, Izatt L, Izquierdo A, Jakubowska A, James P, Janavicius R, Jernetz M, Jensen A, Jensen U, John E, Johnatty S, Jones M, Kannisto P, Karlan B, Karnezis A, Kast K, Kennedy C, Khusnutdinova E, Kiemeney L, Kiiski J, Kim S, Kjaer S, Köbel M, Kopperud R, Kruse T, Kupryjanczyk J, Kwong A, Laitman Y, Lambrechts D, Larrañaga N, Larson M, Lazaro C, Le N, Le Marchand L, Lee J, Lele S, Leminen A, Leroux D, Lester J, Lesueur F, Levine D, Liang D, Liebrich C, Lilyquist J, Lipworth L, Lissowska J, Lu K, Lubinński J, Luccarini C, Lundvall L, Mai P, Mendoza-Fandiño G, Manoukian S, Massuger L, May T, Mazoyer S, McAlpine J, McGuire V, McLaughlin J, McNeish I, Meijers-Heijboer H, Meindl A, Menon U, Mensenkamp A, Merritt M, Milne R, Mitchell G, Modugno F, Moes-Sosnowska J, Moffitt M, Montagna M, Moysich K, Mulligan A, Musinsky J, Nathanson K, Nedergaard L, Ness R, Neuhausen S, Nevanlinna H, Niederacher D, Nussbaum R, Odunsi K, Olah E, Olopade O, Olsson H, Olswold C, O'Malley D, Ong K, Onland-Moret N, Orr N, Orsulic S, Osorio A, Palli D, Papi L, Park-Simon T, Paul J, Pearce C, Pedersen I, Peeters P, Peissel B, Peixoto A, Pejovic T, Pelttari L, Permuth J, Peterlongo P, Pezzani L, Pfeiler G, Phillips K, Piedmonte M, Pike M, Piskorz A, Poblete S, Pocza T, Poole E, Poppe B, Porteous M, Prieur F, Prokofyeva D, Pugh E, Pujana M, Pujol P, Radice P, Rantala J, Rappaport-Fuerhauser C, Rennert G, Rhiem K, Rice P, Richardson A, Robson M, Rodriguez G, Rodríguez-Antona C, Romm J, Rookus M, Rossing M, Rothstein J, Rudolph A, Runnebaum I, Salvesen H, Sandler D, Schoemaker M, Senter L, Setiawan V, Severi G, Sharma P, Shelford T, Siddiqui N, Side L, Sieh W, Singer C, Sobol H, Song H, Southey M, Spurdle A, Stadler Z, Steinemann D, Stoppa-Lyonnet D, Sucheston-Campbell L, Sukiennicki G, Sutphen R, Sutter C, Swerdlow A, Szabo C, Szafron L, Tan Y, Taylor J, Tea M, Teixeira M, Teo S, Terry K, Thompson P, Thomsen L, Thull D, Tihomirova L, Tinker A, Tischkowitz M, Tognazzo S, Toland A, Tone A, Trabert B, Travis R, Trichopoulou A, Tung N, Tworoger S, van Altena A, Van Den Berg D, van der Hout A, van der Luijt R, Van Heetvelde M, Van Nieuwenhuysen E, van Rensburg E, Vanderstichele A, Varon-Mateeva R, Vega A, Edwards D, Vergote I, Vierkant R, Vijai J, Vratimos A, Walker L, Walsh C, Wand D, Wang-Gohrke S, Wappenschmidt B, Webb P, Weinberg C, Weitzel J, Wentzensen N, Whittemore A, Wijnen J, Wilkens L, Wolk A, Woo M, Wu X, Wu A, Yang H, Yannoukakos D, Ziogas A, Zorn K, Narod S, Easton D, Amos C, Schildkraut J, Ramus S, Ottini L, Goodman M, Park S, Kelemen L, Risch H, Thomassen M, Offit K, Simard J, Schmutzler R, Hazelett D, Monteiro A, Couch F, Berchuck A, Chenevix-Trench G, Goode E, Sellers T, Gayther S, Antoniou A, Pharoah P. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. Nature Genetics 2017, 49: 680-691. PMID: 28346442, PMCID: PMC5612337, DOI: 10.1038/ng.3826.Peer-Reviewed Original ResearchMeSH KeywordsAllelesBRCA1 ProteinBRCA2 ProteinCarcinoma, Ovarian EpithelialFemaleGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMeta-Analysis as TopicMutationNeoplasms, Glandular and EpithelialOvarian NeoplasmsPolymorphism, Single NucleotideRisk FactorsTelomere-Binding ProteinsConceptsNew susceptibility lociSusceptibility lociGenome-wide association studiesLarge genome-wide association studiesCandidate susceptibility genesRegulatory featuresAssociation studiesSusceptibility genesLociIntegrated analysisEpithelial ovarian cancer histotypesGenesOvarian cancer histotypesOvarian cancerCancer histotypesOBFC1Different histotypesEpithelial ovarian cancerIdentificationEnrichment 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
Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types
Kar SP, Beesley J, Al Olama A, Michailidou K, Tyrer J, Kote-Jarai Z, Lawrenson K, Lindstrom S, Ramus SJ, Thompson DJ, Investigators A, Kibel AS, Dansonka-Mieszkowska A, Michael A, Dieffenbach AK, Gentry-Maharaj A, Whittemore AS, Wolk A, Monteiro A, Peixoto A, Kierzek A, Cox A, Rudolph A, Gonzalez-Neira A, Wu AH, Lindblom A, Swerdlow A, Study A, BioResource A, Ziogas A, Ekici AB, Burwinkel B, Karlan BY, Nordestgaard BG, Blomqvist C, Phelan C, McLean C, Pearce CL, Vachon C, Cybulski C, Slavov C, Stegmaier C, Maier C, Ambrosone CB, Høgdall CK, Teerlink CC, Kang D, Tessier DC, Schaid DJ, Stram DO, Cramer DW, Neal DE, Eccles D, Flesch-Janys D, Edwards DR, Wokozorczyk D, Levine DA, Yannoukakos D, Sawyer EJ, Bandera EV, Poole EM, Goode EL, Khusnutdinova E, Høgdall E, Song F, Bruinsma F, Heitz F, Modugno F, Hamdy FC, Wiklund F, Giles GG, Olsson H, Wildiers H, Ulmer HU, Pandha H, Risch HA, Darabi H, Salvesen HB, Nevanlinna H, Gronberg H, Brenner H, Brauch H, Anton-Culver H, Song H, Lim HY, McNeish I, Campbell I, Vergote I, Gronwald J, Lubiński J, Stanford JL, Benítez J, Doherty JA, Permuth JB, Chang-Claude J, Donovan JL, Dennis J, Schildkraut JM, Schleutker J, Hopper JL, Kupryjanczyk J, Park JY, Figueroa J, Clements JA, Knight JA, Peto J, Cunningham JM, Pow-Sang J, Batra J, Czene K, Lu KH, Herkommer K, Khaw KT, Investigators K, Matsuo K, Muir K, Offitt K, Chen K, Moysich KB, Aittomäki K, Odunsi K, Kiemeney LA, Massuger LF, Fitzgerald LM, Cook LS, Cannon-Albright L, Hooning MJ, Pike MC, Bolla MK, Luedeke M, Teixeira MR, Goodman MT, Schmidt MK, Riggan M, Aly M, Rossing MA, Beckmann MW, Moisse M, Sanderson M, Southey MC, Jones M, Lush M, Hildebrandt MA, Hou MF, Schoemaker MJ, Garcia-Closas M, Bogdanova N, Rahman N, Investigators N, Le ND, Orr N, Wentzensen N, Pashayan N, Peterlongo P, Guénel P, Brennan P, Paulo P, Webb PM, Broberg P, Fasching PA, Devilee P, Wang Q, Cai Q, Li Q, Kaneva R, Butzow R, Kopperud RK, Schmutzler RK, Stephenson RA, MacInnis RJ, Hoover RN, Winqvist R, Ness R, Milne RL, Travis RC, Benlloch S, Olson SH, McDonnell SK, Tworoger SS, Maia S, Berndt S, Lee SC, Teo SH, Thibodeau SN, Bojesen SE, Gapstur SM, Kjær SK, Pejovic T, Tammela TL, Network T, consortium T, Dörk T, Brüning T, Wahlfors T, Key TJ, Edwards TL, Menon U, Hamann U, Mitev V, Kosma VM, Setiawan VW, Kristensen V, Arndt V, Vogel W, Zheng W, Sieh W, Blot WJ, Kluzniak W, Shu XO, Gao YT, Schumacher F, Freedman ML, Berchuck A, Dunning AM, Simard J, Haiman CA, Spurdle A, Sellers TA, Hunter DJ, Henderson BE, Kraft P, Chanock SJ, Couch FJ, Hall P, Gayther SA, Easton DF, Chenevix-Trench G, Eeles R, Pharoah PD, Lambrechts D. Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types. Cancer Discovery 2016, 6: 1052-1067. PMID: 27432226, PMCID: PMC5010513, DOI: 10.1158/2159-8290.cd-15-1227.Peer-Reviewed Original ResearchMeSH KeywordsBreast NeoplasmsCase-Control StudiesChromosome MappingDatasets as TopicEnhancer Elements, GeneticFemaleGene Regulatory NetworksGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMeta-Analysis as TopicOrgan SpecificityOvarian NeoplasmsPolymorphism, Single NucleotideProstatic NeoplasmsQuantitative Trait LociSignal TransductionConceptsCancer risk lociRisk lociSpecific expression quantitative trait lociExpression quantitative trait lociGenome-wide association studiesProstate cancer risk lociQuantitative trait lociNew risk lociMeta-analysis data setsTrait lociTarget genesGenetic basisNew lociCancer typesDeath receptorsPathway analysisInteraction annotationsAssociation studiesLociSignificant enrichmentIndex variantsEuropean ancestryAdditional regionsGenesSecond cancer types
2015
Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC)
Jim HS, Lin HY, Tyrer JP, Lawrenson K, Dennis J, Chornokur G, Chen Z, Chen AY, Permuth-Wey J, Aben KK, 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, Sieh W, 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, Harter P, Hasmad HN, Hein A, Heitz F, Hildebrandt MA, Hillemanns P, Hogdall CK, Hogdall E, Hosono S, Iversen ES, Jakubowska A, Jensen A, Ji BT, Karlan BY, Kellar M, Kiemeney LA, Krakstad C, Kjaer SK, Kupryjanczyk J, Vierkant RA, 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, Thomsen L, Moysich KB, Ness RB, Nevanlinna H, Eilber U, Odunsi K, Olson SH, Orlow I, Orsulic S, Palmieri Weber R, Paul J, Pearce CL, Pejovic T, Pelttari LM, Pike MC, Poole EM, Schernhammer E, Risch HA, Rosen B, Rossing MA, Rothstein JH, Rudolph A, Runnebaum IB, Rzepecka IK, Salvesen HB, Schwaab I, Shu XO, Shvetsov YB, Siddiqui N, Song H, Southey MC, Spiewankiewicz B, Sucheston-Campbell L, Teo SH, Terry KL, Thompson PJ, Tangen IL, Tworoger SS, van Altena AM, 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, Amankwah E, Berchuck A, , Schildkraut JM, Kelemen LE, Ramus SJ, Monteiro AN, Goode EL, Narod SA, Gayther SA, Pharoah PD, Sellers TA, Phelan CM. Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC). Journal Of Genetics And Genome Research 2015, 2: 017. PMID: 26807442, PMCID: PMC4722961, DOI: 10.23937/2378-3648/1410017.Peer-Reviewed Original ResearchSingle nucleotide polymorphismsCircadian genesGenetic variationDownstream transcription factorsCircadian gene expressionCommon genetic variationGenotyped single nucleotide polymorphismsCircadian rhythm genesOvarian surface epithelial cellsAlternative splicingTranscription factorsGene expressionFunctional analysisHormonal pathwaysOvarian Cancer Association ConsortiumRhythm genesGenesGenotype dataNucleotide polymorphismsSurface epithelial cellsEpithelial cellsEnvironmental factorsGranulosa cellsOvarian cancerEpithelial ovarian cancerNetwork-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 AtlasPolymorphisms 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 cellsHOXD9