2024
Genome-Wide Analysis to Assess if Heavy Alcohol Consumption Modifies the Association between SNPs and Pancreatic Cancer Risk.
Ni Z, Kundu P, McKean D, Wheeler W, Albanes D, Andreotti G, Antwi S, Arslan A, Bamlet W, Beane-Freeman L, Berndt S, Bracci P, Brennan P, Buring J, Chanock S, Gallinger S, Gaziano J, Giles G, Giovannucci E, Goggins M, Goodman P, Haiman C, Hassan M, Holly E, Hung R, Katzke V, Kooperberg C, Kraft P, LeMarchand L, Li D, McCullough M, Milne R, Moore S, Neale R, Oberg A, Patel A, Peters U, Rabe K, Risch H, Shu X, Smith-Byrne K, Visvanathan K, Wactawski-Wende J, White E, Wolpin B, Yu H, Zeleniuch-Jacquotte A, Zheng W, Zhong J, Amundadottir L, Stolzenberg-Solomon R, Klein A. Genome-Wide Analysis to Assess if Heavy Alcohol Consumption Modifies the Association between SNPs and Pancreatic Cancer Risk. Cancer Epidemiology Biomarkers & Prevention 2024, 33: 1229-1239. PMID: 38869494, DOI: 10.1158/1055-9965.epi-24-0096.Peer-Reviewed Original ResearchConceptsPancreatic cancer riskHeavy alcohol consumptionCancer riskSingle-nucleotide polymorphismsAlcohol consumptionExpression quantitative trait lociQuantitative trait lociAssociated with pancreatic cancer riskGenome-wide interaction analysisGenome-wide significant evidenceEtiology of pancreatic cancerFixed-effect meta-analysesGenomic regionsGenome-wide significant evidence of associationLead single-nucleotide polymorphismsTrait lociGenetic variantsEuropean ancestry populationsEvidence of associationGenome-wide association studiesAnalysis of single-nucleotide polymorphismsCase-control studyPancreatic cancerGenome-wide analysisAncestry populationsIntegrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions
Dareng E, Coetzee S, Tyrer J, Peng P, Rosenow W, Chen S, Davis B, Dezem F, Seo J, Nameki R, Reyes A, Aben K, Anton-Culver H, Antonenkova N, Aravantinos G, Bandera E, Freeman L, Beckmann M, Beeghly-Fadiel A, Benitez J, Bernardini M, Bjorge L, Black A, Bogdanova N, Bolton K, Brenton J, Budzilowska A, Butzow R, Cai H, Campbell I, Cannioto R, Chang-Claude J, Chanock S, Chen K, Chenevix-Trench G, Group A, Chiew Y, Cook L, DeFazio A, Dennis J, Doherty J, Dörk T, du Bois A, Dürst M, Eccles D, Ene G, Fasching P, Flanagan J, Fortner R, Fostira F, Gentry-Maharaj A, Giles G, Goodman M, Gronwald J, Haiman C, Håkansson N, Heitz F, Hildebrandt M, Høgdall E, Høgdall C, Huang R, Jensen A, Jones M, Kang D, Karlan B, Karnezis A, Kelemen L, Kennedy C, Khusnutdinova E, Kiemeney L, Kjaer S, Kupryjanczyk J, Labrie M, Lambrechts D, Larson M, Le N, Lester J, Li L, Lubiński J, Lush M, Marks J, Matsuo K, May T, McLaughlin J, McNeish I, Menon U, Missmer S, Modugno F, Moffitt M, Monteiro A, Moysich K, Narod S, Nguyen-Dumont T, Odunsi K, Olsson H, Onland-Moret N, Park S, Pejovic T, Permuth J, Piskorz A, Prokofyeva D, Riggan M, Risch H, Rodríguez-Antona C, Rossing M, Sandler D, Setiawan V, Shan K, Song H, Southey M, Steed H, Sutphen R, Swerdlow A, Teo S, Terry K, Thompson P, Thomsen L, Titus L, Trabert B, Travis R, Tworoger S, Valen E, Van Nieuwenhuysen E, Edwards D, Vierkant R, Webb P, Group O, Weinberg C, Weise R, Wentzensen N, White E, Winham S, Wolk A, Woo Y, Wu A, Yan L, Yannoukakos D, Zeinomar N, Zheng W, Ziogas A, Berchuck A, Goode E, Huntsman D, Pearce C, Ramus S, Sellers T, Consortium T, Freedman M, Lawrenson K, Schildkraut J, Hazelett D, Plummer J, Kar S, Jones M, Pharoah P, Gayther S. Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions. American Journal Of Human Genetics 2024, 111: 1061-1083. PMID: 38723632, PMCID: PMC11179261, DOI: 10.1016/j.ajhg.2024.04.011.Peer-Reviewed Original ResearchTranscriptome-wide association studyRisk lociAssociation studiesTranscription factor ChIP-seqSusceptibility genesGenome-wide association analysisGenome-wide association studiesCausal risk variantsControls of European originTranscriptome-wide associationEpithelial ovarian cancerVariant Effect PredictorIntegrative multi-omics analysisMulti-omics analysisChIP-seqChromatin marksGenomic regionsFine-mappingSusceptibility lociInteractome analysisAssociation analysisEpithelial ovarian cancer histotypesRisk variantsTissue-specificLoci
2023
Genetic Susceptibility to Nonalcoholic Fatty Liver Disease and Risk for Pancreatic Cancer: Mendelian Randomization.
King S, Veliginti S, Brouwers M, Ren Z, Zheng W, Setiawan V, Wilkens L, Shu X, Arslan A, Beane Freeman L, Bracci P, Canzian F, Du M, Gallinger S, Giles G, Goodman P, Haiman C, Kogevinas M, Kooperberg C, LeMarchand L, Neale R, Visvanathan K, White E, Albanes D, Andreotti G, Babic A, Berndt S, Brais L, Brennan P, Buring J, Rabe K, Bamlet W, Chanock S, Fuchs C, Gaziano J, Giovannucci E, Hackert T, Hassan M, Katzke V, Kurtz R, Lee I, Malats N, Murphy N, Oberg A, Orlow I, Porta M, Real F, Rothman N, Sesso H, Silverman D, Thompson I, Wactawski-Wende J, Wang X, Wentzensen N, Yu H, Zeleniuch-Jacquotte A, Yu K, Wolpin B, Duell E, Li D, Hung R, Perdomo S, McCullough M, Freedman N, Patel A, Peters U, Riboli E, Sund M, Tjønneland A, Zhong J, Van Den Eeden S, Kraft P, Risch H, Amundadottir L, Klein A, Stolzenberg-Solomon R, Antwi S. Genetic Susceptibility to Nonalcoholic Fatty Liver Disease and Risk for Pancreatic Cancer: Mendelian Randomization. Cancer Epidemiology Biomarkers & Prevention 2023, 32: 1265-1269. PMID: 37351909, PMCID: PMC10529823, DOI: 10.1158/1055-9965.epi-23-0453.Peer-Reviewed Original ResearchConceptsNonalcoholic fatty liver diseasePancreatic cancer riskFatty liver diseasePancreatic cancerCancer riskLiver diseaseGenetic predispositionMendelian randomizationPancreatic Cancer Case-Control ConsortiumConfidence intervalsPancreatic Cancer Cohort ConsortiumPC risk factorsMR methodsRisk factorsGenome-wide association studiesGenetic susceptibilityLogistic regressionCancerMetabolic perturbationsMetabolic conditionsRiskDiseaseGenetic variantsAssociationPredispositionGenome-wide analyses characterize shared heritability among cancers and identify novel cancer susceptibility regions
Lindström S, Wang L, Feng H, Majumdar A, Huo S, Macdonald J, Harrison T, Turman C, Chen H, Mancuso N, Bammler T, Consortium B, Gallinger S, Gruber S, Gunter M, Le Marchand L, Moreno V, Offit K, Study G, De Vivo I, O’Mara T, Spurdle A, Tomlinson I, Consortium E, Fitzgerald R, Gharahkhani P, Gockel I, Jankowski J, Macgregor S, Schumacher J, Barnholtz-Sloan J, Bondy M, Houlston R, Jenkins R, Melin B, Wrensch M, Brennan P, Christiani D, Johansson M, Mckay J, Aldrich M, Amos C, Landi M, Tardon A, Consortium I, Bishop D, Demenais F, Goldstein A, Iles M, Kanetsky P, Law M, Consortium O, Amundadottir L, Stolzenberg-Solomon R, Wolpin B, Consortium P, Klein A, Petersen G, Risch H, Consortium T, Chanock S, Purdue M, Scelo G, Pharoah P, Kar S, Hung R, Pasaniuc B, Kraft P. Genome-wide analyses characterize shared heritability among cancers and identify novel cancer susceptibility regions. Journal Of The National Cancer Institute 2023, 115: 712-732. PMID: 36929942, PMCID: PMC10248849, DOI: 10.1093/jnci/djad043.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesTranscriptome-wide association studyCancer susceptibility lociGenome-wide genetic correlationSusceptibility lociAssociation studiesMultiple cancer typesCancer genome-wide association studyGenome-wide analysisCross-disease analysisGenetic correlationsSusceptibility regionsGWAS summary statisticsCancer typesGenetic risk variantsDistinct lociCancer heritabilityLociRisk variantsGenetic contributionEuropean ancestryPleiotropyAdditional regionsDifferent cancersHeritability
2022
The age-dependent association of risk factors with pancreatic cancer
Yuan C, Kim J, Wang QL, Lee AA, Babic A, Consortium P, Amundadottir LT, Ardanaz E, Arslan A, Beane-Freeman L, Bracci P, Bueno-de-Mesquita B, Du M, Gallinger S, Giles G, Goodman P, Katzke V, Klein A, Kooperberg C, Kraft P, Li D, Malats N, Marchand L, McCullough M, Milne R, Neoptolemos J, Perdomo S, Petersen G, Risch H, Shu X, Stolzenberg-Solomon R, Van Den Eeden S, Visvanathan K, White E, Wolpin B, Zheng W, Amundadottir L, Klein A, Li D, McCullough M, Petersen G, Risch H, Stolzenberg-Solomon R, Perez K, Ng K, Giovannucci E, Stampfer M, Kraft P, Wolpin B. The age-dependent association of risk factors with pancreatic cancer. Annals Of Oncology 2022, 33: 693-701. PMID: 35398288, PMCID: PMC9233063, DOI: 10.1016/j.annonc.2022.03.276.Peer-Reviewed Original ResearchConceptsPancreatic cancer casesRisk factorsPancreatic cancerProspective cohortMale sexBlack raceSEER programCancer casesPolygenic risk scoresRisk scoreProspective US cohort studyNon-modifiable risk factorsNon-O blood groupIncident pancreatic cancerUS cohort studyEnd Results ProgramPancreatic cancer riskAge-specific associationsEarly detection strategiesAge-dependent associationGenome-wide association studiesAdvanced diseaseCancer presentsCohort studyUS Surveillance
2021
A 584 bp deletion in CTRB2 inhibits chymotrypsin B2 activity and secretion and confers risk of pancreatic cancer
Jermusyk A, Zhong J, Connelly KE, Gordon N, Perera S, Abdolalizadeh E, Zhang T, O’Brien A, Hoskins JW, Collins I, Eiser D, Yuan C, Consortium P, Consortium P, Albanes D, Arslan A, Gurrea A, Beane-Freeman L, Bracci P, Bueno-de-Mesquita B, Buring J, Canzian F, Gallinger S, Gaziano J, Giles G, Goodman P, Johansson M, Kooperberg C, LeMarchand L, Malats N, Neale R, Panico S, Peters U, Real F, Shu X, Sund M, Thornquist M, Tjønneland A, Travis R, Van Den Eeden S, Visvanathan K, Zheng W, Kraft P, Risch H, Jacobs E, Li D, Du M, Stolzenberg-Solomon R, Klein A, Smith J, Wolpin B, Chanock S, Shi J, Petersen G, Westlake C, Amundadottir L. A 584 bp deletion in CTRB2 inhibits chymotrypsin B2 activity and secretion and confers risk of pancreatic cancer. American Journal Of Human Genetics 2021, 108: 1852-1865. PMID: 34559995, PMCID: PMC8546220, DOI: 10.1016/j.ajhg.2021.09.002.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesB2 proteinEndoplasmic reticulumDeletion allelePremature stop codonHuman genomeGWAS datasetsSuch lociRisk lociAssociation studiesStop codonER stressCTRB2Pancreatic ductal adenocarcinomaBp deletionExon 6European ancestryLociExon 7Intracellular accumulationExon 5ProteinGermline variantsChymotrypsin activityAlleles
2020
Genome-wide association meta-analysis identifies GP2 gene risk variants for pancreatic cancer
Lin Y, Nakatochi M, Hosono Y, Ito H, Kamatani Y, Inoko A, Sakamoto H, Kinoshita F, Kobayashi Y, Ishii H, Ozaka M, Sasaki T, Matsuyama M, Sasahira N, Morimoto M, Kobayashi S, Fukushima T, Ueno M, Ohkawa S, Egawa N, Kuruma S, Mori M, Nakao H, Adachi Y, Okuda M, Osaki T, Kamiya S, Wang C, Hara K, Shimizu Y, Miyamoto T, Hayashi Y, Ebi H, Kohmoto T, Imoto I, Kasugai Y, Murakami Y, Akiyama M, Ishigaki K, Matsuda K, Hirata M, Shimada K, Okusaka T, Kawaguchi T, Takahashi M, Watanabe Y, Kuriki K, Kadota A, Okada R, Mikami H, Takezaki T, Suzuki S, Yamaji T, Iwasaki M, Sawada N, Goto A, Kinoshita K, Fuse N, Katsuoka F, Shimizu A, Nishizuka SS, Tanno K, Suzuki K, Okada Y, Horikoshi M, Yamauchi T, Kadowaki T, Yu H, Zhong J, Amundadottir LT, Doki Y, Ishii H, Eguchi H, Bogumil D, Haiman CA, Le Marchand L, Mori M, Risch H, Setiawan VW, Tsugane S, Wakai K, Yoshida T, Matsuda F, Kubo M, Kikuchi S, Matsuo K. Genome-wide association meta-analysis identifies GP2 gene risk variants for pancreatic cancer. Nature Communications 2020, 11: 3175. PMID: 32581250, PMCID: PMC7314803, DOI: 10.1038/s41467-020-16711-w.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsGenome-wide significant lociLead single nucleotide polymorphismsGenome-wide association studiesGene variantsMeta-analysis identifiesEast Asian ancestryEast Asian originSignificant lociRisk lociFunctional analysisAssociation studiesPancreatic cancer susceptibilityRisk variantsNucleotide polymorphismsCell linesGene risk variantsCancer susceptibilityLociAsian ancestryKRAS activityAsian originVariantsPancreatic cancerPopulationGenome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
Zhang H, Ahearn TU, Lecarpentier J, Barnes D, Beesley J, Qi G, Jiang X, O’Mara T, Zhao N, Bolla MK, Dunning AM, Dennis J, Wang Q, Ful ZA, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Arun BK, Auer PL, Azzollini J, Barrowdale D, Becher H, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bialkowska K, Blanco A, Blomqvist C, Bogdanova NV, Bojesen SE, Bonanni B, Bondavalli D, Borg A, Brauch H, Brenner H, Briceno I, Broeks A, Brucker SY, Brüning T, Burwinkel B, Buys SS, Byers H, Caldés T, Caligo MA, Calvello M, Campa D, Castelao JE, Chang-Claude J, Chanock SJ, Christiaens M, Christiansen H, Chung WK, Claes KBM, Clarke CL, Cornelissen S, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Diez O, Domchek SM, Dörk T, Dwek M, Eccles DM, Ekici AB, Evans DG, Fasching PA, Figueroa J, Foretova L, Fostira F, Friedman E, Frost D, Gago-Dominguez M, Gapstur SM, Garber J, García-Sáenz JA, Gaudet MM, Gayther SA, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Gronwald J, Guénel P, Häberle L, Hahnen E, Haiman CA, Hake CR, Hall P, Hamann U, Harkness EF, Heemskerk-Gerritsen BAM, Hillemanns P, Hogervorst FBL, Holleczek B, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Howell A, Huebner H, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Jager A, Jakimovska M, Jakubowska A, James P, Janavicius R, Janni W, John E, Jones M, Jung A, Kaaks R, Kapoor P, Karlan B, Keeman R, Khan S, Khusnutdinova E, Kitahara C, Ko Y, Konstantopoulou I, Koppert L, Koutros S, Kristensen V, Laenkholm A, Lambrechts D, Larsson S, Laurent-Puig P, Lazaro C, Lazarova E, Lejbkowicz F, Leslie G, Lesueur F, Lindblom A, Lissowska J, Lo W, Loud J, Lubinski J, Lukomska A, MacInnis R, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez M, Matricardi L, McGuffog L, McLean C, Mebirouk N, Meindl A, Menon U, Miller A, Mingazheva E, Montagna M, Mulligan A, Mulot C, Muranen T, Nathanson K, Neuhausen S, Nevanlinna H, Neven P, Newman W, Nielsen F, Nikitina-Zake L, Nodora J, Offit K, Olah E, Olopade O, Olsson H, Orr N, Papi L, Papp J, Park-Simon T, Parsons M, Peissel B, Peixoto A, Peshkin B, Peterlongo P, Peto J, Phillips K, Piedmonte M, Plaseska-Karanfilska D, Prajzendanc K, Prentice R, Prokofyeva D, Rack B, Radice P, Ramus S, Rantala J, Rashid M, Rennert G, Rennert H, Risch H, Romero A, Rookus M, Rübner M, Rüdiger T, Saloustros E, Sampson S, Sandler D, Sawyer E, Scheuner M, Schmutzler R, Schneeweiss A, Schoemaker M, Schöttker B, Schürmann P, Senter L, Sharma P, Sherman M, Shu X, Singer C, Smichkoska S, Soucy P, Southey M, Spinelli J, Stone J, Stoppa-Lyonnet D, Swerdlow A, Szabo C, Tamimi R, Tapper W, Taylor J, Teixeira M, Terry M, Thomassen M, Thull D, Tischkowitz M, Toland A, Tollenaar R, Tomlinson I, Torres D, Troester M, Truong T, Tung N, Untch M, Vachon C, van den Ouweland A, van der Kolk L, van Veen E, vanRensburg E, Vega A, Wappenschmidt B, Weinberg C, Weitzel J, Wildiers H, Winqvist R, Wolk A, Yang X, Yannoukakos D, Zheng W, Zorn K, Milne R, Kraft P, Simard J, Pharoah P, Michailidou K, Antoniou A, Schmidt M, Chenevix-Trench G, Easton D, Chatterjee N, García-Closas M. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses. Nature Genetics 2020, 52: 572-581. PMID: 32424353, PMCID: PMC7808397, DOI: 10.1038/s41588-020-0609-2.Peer-Reviewed Original ResearchConceptsSusceptibility lociAssociation studiesGenome-wide association studiesCell-specific enhancerWide association studyNovel breast cancer susceptibility lociNovel susceptibility lociBasal mammary cellsBreast cancer susceptibility lociCancer susceptibility lociTriple-negative diseaseCancer susceptibility variantsChip heritabilityNovel lociPolygenic risk scoresSilico analysisLociSusceptibility variantsGenetic correlationsRisk scoreMammary cellsHuman epidermal growth factor receptor 2 (HER2) statusEpidermal growth factor receptor 2 statusBreast cancer susceptibility variantsEuropean ancestryA 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 roleFine-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
Mo1372 – Genetic Susceptibility to Chronic Inflammatory Intestinal Diseases and Pancreatic Ductual Adenocarcinoma: A Pathway Analysis of Genome-Wide Association Studies
Yuan F, Hung R, Zhang H, Wheeler W, Platz E, Amundadottir L, Jacobs E, Kraft P, Li D, Petersen G, Risch H, Wolpin B, Yu K, Klein A, Stolzenberg-Solomo R. Mo1372 – Genetic Susceptibility to Chronic Inflammatory Intestinal Diseases and Pancreatic Ductual Adenocarcinoma: A Pathway Analysis of Genome-Wide Association Studies. Gastroenterology 2019, 156: s-755-s-756. DOI: 10.1016/s0016-5085(19)38824-9.Peer-Reviewed Original ResearchGenome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
Ferreira MA, Gamazon ER, Al-Ejeh F, Aittomäki K, Andrulis IL, Anton-Culver H, Arason A, Arndt V, Aronson KJ, Arun BK, Asseryanis E, Azzollini J, Balmaña J, Barnes DR, Barrowdale D, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Białkowska K, Blomqvist C, Bogdanova NV, Bojesen SE, Bolla MK, Borg A, Brauch H, Brenner H, Broeks A, Burwinkel B, Caldés T, Caligo MA, Campa D, Campbell I, Canzian F, Carter J, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Christiansen H, Chung WK, Claes KBM, Clarke CL, Couch F, Cox A, Cross S, Czene K, Daly M, de la Hoya M, Dennis J, Devilee P, Diez O, Dörk T, Dunning A, Dwek M, Eccles D, Ejlertsen B, Ellberg C, Engel C, Eriksson M, Fasching P, Fletcher O, Flyger H, Friedman E, Frost D, Gabrielson M, Gago-Dominguez M, Ganz P, Gapstur S, Garber J, García-Closas M, García-Sáenz J, Gaudet M, Giles G, Glendon G, Godwin A, Goldberg M, Goldgar D, González-Neira A, Greene M, Gronwald J, Guénel P, Haiman C, Hall P, Hamann U, He W, Heyworth J, Hogervorst F, Hollestelle A, Hoover R, Hopper J, Hulick P, Humphreys K, Imyanitov E, Isaacs C, Jakimovska M, Jakubowska A, James P, Janavicius R, Jankowitz R, John E, Johnson N, Joseph V, Karlan B, Khusnutdinova E, Kiiski J, Ko Y, Jones M, Konstantopoulou I, Kristensen V, Laitman Y, Lambrechts D, Lazaro C, Leslie G, Lester J, Lesueur F, Lindström S, Long J, Loud J, Lubiński J, Makalic E, Mannermaa A, Manoochehri M, Margolin S, Maurer T, Mavroudis D, McGuffog L, Meindl A, Menon U, Michailidou K, Miller A, Montagna M, Moreno F, Moserle L, Mulligan A, Nathanson K, Neuhausen S, Nevanlinna H, Nevelsteen I, Nielsen F, Nikitina-Zake L, Nussbaum R, Offit K, Olah E, Olopade O, Olsson H, Osorio A, Papp J, Park-Simon T, Parsons M, Pedersen I, Peixoto A, Peterlongo P, Pharoah P, Plaseska-Karanfilska D, Poppe B, Presneau N, Radice P, Rantala J, Rennert G, Risch H, Saloustros E, Sanden K, Sawyer E, Schmidt M, Schmutzler R, Sharma P, Shu X, Simard J, Singer C, Soucy P, Southey M, Spinelli J, Spurdle A, Stone J, Swerdlow A, Tapper W, Taylor J, Teixeira M, Terry M, Teulé A, Thomassen M, Thöne K, Thull D, Tischkowitz M, Toland A, Torres D, Truong T, Tung N, Vachon C, van Asperen C, van den Ouweland A, van Rensburg E, Vega A, Viel A, Wang Q, Wappenschmidt B, Weitzel J, Wendt C, Winqvist R, Yang X, Yannoukakos D, Ziogas A, Kraft P, Antoniou A, Zheng W, Easton D, Milne R, Beesley J, Chenevix-Trench G. Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer. Nature Communications 2019, 10: 1741. PMID: 30988301, PMCID: PMC6465407, DOI: 10.1038/s41467-018-08053-5.Peer-Reviewed Original ResearchConceptsExpression quantitative trait lociGenome-wide association studiesTarget genesMultiple expression quantitative trait lociBreast cancer risk variantsPrevious genome-wide association studyQuantitative trait lociGenome-wide associationGene-based testsBreast cancerBreast cancer susceptibility lociCancer susceptibility lociRisk-associated variantsImmune cellsTrait lociTranscriptome studiesRisk lociGene expressionAssociation studiesOverall breast cancer riskSusceptibility lociMultiple tissuesBreast cancer riskNegative breast cancerRisk variantsFunctional 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
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 alleles
2017
Quantifying the Genetic Correlation between Multiple Cancer Types
Lindström S, GECCO and the GAME-ON Network: CORECT D, Finucane H, Bulik-Sullivan B, Schumacher F, Amos C, Hung R, Rand K, Gruber S, Conti D, Permuth J, Lin H, Goode E, Sellers T, Amundadottir L, Stolzenberg-Solomon R, Klein A, Petersen G, Risch H, Wolpin B, Hsu L, Huyghe J, Chang-Claude J, Chan A, Berndt S, Eeles R, Easton D, Haiman C, Hunter D, Neale B, Price A, Kraft P. Quantifying the Genetic Correlation between Multiple Cancer Types. Cancer Epidemiology Biomarkers & Prevention 2017, 26: 1427-1435. PMID: 28637796, PMCID: PMC5582139, DOI: 10.1158/1055-9965.epi-17-0211.Peer-Reviewed Original ResearchConceptsColorectal cancerLung cancerRisk factorsBreast cancerRare high-penetrance mutationsCancer typesBody mass indexSpecific genetic risk factorsGenetic risk factorsHigh-penetrance mutationsMass indexControl subjectsOvarian cancerObservational studyProstate cancerNoncancer diseasesGenome-wide association studiesCancerDistinct cancersPrevious observational studiesAssociation studiesColorectalLungSummary statistics dataModest genetic correlationIdentification 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