2024
Integrative 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
Genome-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
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 tissuesTranscriptome‐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 geneticsLoci
2018
Identification 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 allelesGenome-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 variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer
Childs EJ, Mocci E, Campa D, Bracci PM, Gallinger S, Goggins M, Li D, Neale RE, Olson SH, Scelo G, Amundadottir LT, Bamlet WR, Bijlsma MF, Blackford A, Borges M, Brennan P, Brenner H, Bueno-de-Mesquita HB, Canzian F, Capurso G, Cavestro GM, Chaffee KG, Chanock SJ, Cleary SP, Cotterchio M, Foretova L, Fuchs C, Funel N, Gazouli M, Hassan M, Herman JM, Holcatova I, Holly EA, Hoover RN, Hung RJ, Janout V, Key TJ, Kupcinskas J, Kurtz RC, Landi S, Lu L, Malecka-Panas E, Mambrini A, Mohelnikova-Duchonova B, Neoptolemos JP, Oberg AL, Orlow I, Pasquali C, Pezzilli R, Rizzato C, Saldia A, Scarpa A, Stolzenberg-Solomon RZ, Strobel O, Tavano F, Vashist YK, Vodicka P, Wolpin BM, Yu H, Petersen GM, Risch HA, Klein AP. Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer. Nature Genetics 2015, 47: 911-916. PMID: 26098869, PMCID: PMC4520746, DOI: 10.1038/ng.3341.Peer-Reviewed Original ResearchMeSH KeywordsAgedAustraliaChromosomes, Human, Pair 17Chromosomes, Human, Pair 2Chromosomes, Human, Pair 3Chromosomes, Human, Pair 7EuropeFemaleGene FrequencyGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMaleMiddle AgedNorth AmericaPancreatic NeoplasmsPolymorphism, Single NucleotideRisk FactorsIdentification of six new susceptibility loci for invasive epithelial ovarian cancer
Kuchenbaecker KB, Ramus SJ, Tyrer J, Lee A, Shen HC, Beesley J, Lawrenson K, McGuffog L, Healey S, Lee JM, Spindler TJ, Lin YG, Pejovic T, Bean Y, Li Q, Coetzee S, Hazelett D, Miron A, Southey M, Terry MB, Goldgar DE, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ding YC, Hansen TV, Jønson L, Gerdes AM, Ejlertsen B, Barrowdale D, Dennis J, Benitez J, Osorio A, Garcia MJ, Komenaka I, Weitzel JN, Ganschow P, Peterlongo P, Bernard L, Viel A, Bonanni B, Peissel B, Manoukian S, Radice P, Papi L, Ottini L, Fostira F, Konstantopoulou I, Garber J, Frost D, Perkins J, Platte R, Ellis S, Godwin A, Schmutzler R, Meindl A, Engel C, Sutter C, Sinilnikova O, Damiola F, Mazoyer S, Stoppa-Lyonnet D, Claes K, De Leeneer K, Kirk J, Rodriguez G, Piedmonte M, O'Malley D, de la Hoya M, Caldes T, Aittomäki K, Nevanlinna H, Collée J, Rookus M, Oosterwijk J, Tihomirova L, Tung N, Hamann U, Isaccs C, Tischkowitz M, Imyanitov E, Caligo M, Campbell I, Hogervorst F, Olah E, Diez O, Blanco I, Brunet J, Lazaro C, Pujana M, Jakubowska A, Gronwald J, Lubinski J, Sukiennicki G, Barkardottir R, Plante M, Simard J, Soucy P, Montagna M, Tognazzo S, Teixeira M, Pankratz V, Wang X, Lindor N, Szabo C, Kauff N, Vijai J, Aghajanian C, Pfeiler G, Berger A, Singer C, Tea M, Phelan C, Greene M, Mai P, Rennert G, Mulligan A, Tchatchou S, Andrulis I, Glendon G, Toland A, Jensen U, Kruse T, Thomassen M, Bojesen A, Zidan J, Friedman E, Laitman Y, Soller M, Liljegren A, Arver B, Einbeigi Z, Stenmark-Askmalm M, Olopade O, Nussbaum R, Rebbeck T, Nathanson K, Domchek S, Lu K, Karlan B, Walsh C, Lester J, Hein A, Ekici A, Beckmann M, Fasching P, Lambrechts D, Van Nieuwenhuysen E, Vergote I, Lambrechts S, Dicks E, Doherty J, Wicklund K, Rossing M, Rudolph A, Chang-Claude J, Wang-Gohrke S, Eilber U, Moysich K, Odunsi K, Sucheston L, Lele S, Wilkens L, Goodman M, Thompson P, Shvetsov Y, Runnebaum I, Dürst M, Hillemanns P, Dörk T, Antonenkova N, Bogdanova N, Leminen A, Pelttari L, Butzow R, Modugno F, Kelley J, Edwards R, Ness R, du Bois A, Heitz F, Schwaab I, Harter P, Matsuo K, Hosono S, Orsulic S, Jensen A, Kjaer S, Hogdall E, Hasmad H, Azmi M, Teo S, Woo Y, Fridley B, Goode E, Cunningham J, Vierkant R, Bruinsma F, Giles G, Liang D, Hildebrandt M, Wu X, Levine D, Bisogna M, Berchuck A, Iversen E, Schildkraut J, Concannon P, Weber R, Cramer D, Terry K, Poole E, Tworoger S, Bandera E, Orlow I, Olson S, Krakstad C, Salvesen H, Tangen I, Bjorge L, van Altena A, Aben K, Kiemeney L, Massuger L, Kellar M, Brooks-Wilson A, Kelemen L, Cook L, Le N, Cybulski C, Yang H, Lissowska J, Brinton L, Wentzensen N, Hogdall C, Lundvall L, Nedergaard L, Baker H, Song H, Eccles D, McNeish I, Paul J, Carty K, Siddiqui N, Glasspool R, Whittemore A, Rothstein J, McGuire V, Sieh W, Ji B, Zheng W, Shu X, Gao Y, Rosen B, Risch H, McLaughlin J, Narod S, Monteiro A, Chen A, Lin H, Permuth-Wey J, Sellers T, Tsai Y, Chen Z, Ziogas A, Anton-Culver H, Gentry-Maharaj A, Menon U, Harrington P, Lee A, Wu A, Pearce C, Coetzee G, Pike M, Dansonka-Mieszkowska A, Timorek A, Rzepecka I, Kupryjanczyk J, Freedman M, Noushmehr H, Easton D, Offit K, Couch F, Gayther S, Pharoah P, Antoniou A, Chenevix-Trench G. Identification of six new susceptibility loci for invasive epithelial ovarian cancer. Nature Genetics 2015, 47: 164-171. PMID: 25581431, PMCID: PMC4445140, DOI: 10.1038/ng.3185.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAllelesBRCA1 ProteinBRCA2 ProteinCarcinoma, Ovarian EpithelialFemaleGenes, ReporterGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHeterozygoteHumansMutationNeoplasms, Glandular and EpithelialOvarian NeoplasmsPolymorphism, Single NucleotideQuantitative Trait LociRiskYoung Adult
2014
Polymorphisms Near TBX5 and GDF7 Are Associated With Increased Risk for Barrett’s Esophagus
Palles C, Chegwidden L, Li X, Findlay JM, Farnham G, Giner F, Peppelenbosch MP, Kovac M, Adams CL, Prenen H, Briggs S, Harrison R, Sanders S, MacDonald D, Haigh C, Tucker A, Love S, Nanji M, deCaestecker J, Ferry D, Rathbone B, Hapeshi J, Barr H, Moayyedi P, Watson P, Zietek B, Maroo N, Gay L, Underwood T, Boulter L, McMurtry H, Monk D, Patel P, Ragunath K, Al Dulaimi D, Murray I, Koss K, Veitch A, Trudgill N, Nwokolo C, Rembacken B, Atherfold P, Green E, Ang Y, Kuipers EJ, Chow W, Paterson S, Kadri S, Beales I, Grimley C, Mullins P, Beckett C, Farrant M, Dixon A, Kelly S, Johnson M, Wajed S, Dhar A, Sawyer E, Roylance R, Onstad L, Gammon MD, Corley DA, Shaheen NJ, Bird NC, Hardie LJ, Reid BJ, Ye W, Liu G, Romero Y, Bernstein L, Wu AH, Casson AG, Fitzgerald R, Whiteman DC, Risch HA, Levine DM, Vaughan TL, Verhaar AP, van den Brande J, Toxopeus EL, Spaander MC, Wijnhoven BP, van der Laan LJ, Krishnadath K, Wijmenga C, Trynka G, McManus R, Reynolds JV, O’Sullivan J, MacMathuna P, McGarrigle SA, Kelleher D, Vermeire S, Cleynen I, Bisschops R, Tomlinson I, Jankowski J. Polymorphisms Near TBX5 and GDF7 Are Associated With Increased Risk for Barrett’s Esophagus. Gastroenterology 2014, 148: 367-378. PMID: 25447851, PMCID: PMC4315134, DOI: 10.1053/j.gastro.2014.10.041.Peer-Reviewed Original ResearchConceptsProtein-coding genesSingle nucleotide polymorphismsTranscription factorsBone morphogenetic protein (BMP) pathwayWide association studyFurther single nucleotide polymorphismsRisk single nucleotide polymorphismsEsophageal developmentCardiac developmentRisk lociAssociation studiesFurther lociProtein pathwayChromosome 6p21GenesNucleotide polymorphismsLociTbx5GDF7Promising variantsPolymorphismBarx1FOXF1KbCRTC1Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer
Wolpin BM, Rizzato C, Kraft P, Kooperberg C, Petersen GM, Wang Z, Arslan AA, Beane-Freeman L, Bracci PM, Buring J, Canzian F, Duell EJ, Gallinger S, Giles GG, Goodman GE, Goodman PJ, Jacobs EJ, Kamineni A, Klein AP, Kolonel LN, Kulke MH, Li D, Malats N, Olson SH, Risch HA, Sesso HD, Visvanathan K, White E, Zheng W, Abnet CC, Albanes D, Andreotti G, Austin MA, Barfield R, Basso D, Berndt SI, Boutron-Ruault MC, Brotzman M, Büchler MW, Bueno-de-Mesquita HB, Bugert P, Burdette L, Campa D, Caporaso NE, Capurso G, Chung C, Cotterchio M, Costello E, Elena J, Funel N, Gaziano JM, Giese NA, Giovannucci EL, Goggins M, Gorman MJ, Gross M, Haiman CA, Hassan M, Helzlsouer KJ, Henderson BE, Holly EA, Hu N, Hunter DJ, Innocenti F, Jenab M, Kaaks R, Key TJ, Khaw KT, Klein EA, Kogevinas M, Krogh V, Kupcinskas J, Kurtz RC, LaCroix A, Landi MT, Landi S, Le Marchand L, Mambrini A, Mannisto S, Milne RL, Nakamura Y, Oberg AL, Owzar K, Patel AV, Peeters PH, Peters U, Pezzilli R, Piepoli A, Porta M, Real FX, Riboli E, Rothman N, Scarpa A, Shu XO, Silverman DT, Soucek P, Sund M, Talar-Wojnarowska R, Taylor PR, Theodoropoulos GE, Thornquist M, Tjønneland A, Tobias GS, Trichopoulos D, Vodicka P, Wactawski-Wende J, Wentzensen N, Wu C, Yu H, Yu K, Zeleniuch-Jacquotte A, Hoover R, Hartge P, Fuchs C, Chanock SJ, Stolzenberg-Solomon RS, Amundadottir LT. Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. Nature Genetics 2014, 46: 994-1000. PMID: 25086665, PMCID: PMC4191666, DOI: 10.1038/ng.3052.Peer-Reviewed Original ResearchImputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33
Wang Z, Zhu B, Zhang M, Parikh H, Jia J, Chung CC, Sampson JN, Hoskins JW, Hutchinson A, Burdette L, Ibrahim A, Hautman C, Raj PS, Abnet CC, Adjei AA, Ahlbom A, Albanes D, Allen NE, Ambrosone CB, Aldrich M, Amiano P, Amos C, Andersson U, Andriole G, Andrulis IL, Arici C, Arslan AA, Austin MA, Baris D, Barkauskas DA, Bassig BA, Beane Freeman LE, Berg CD, Berndt SI, Bertazzi PA, Biritwum RB, Black A, Blot W, Boeing H, Boffetta P, Bolton K, Boutron-Ruault MC, Bracci PM, Brennan P, Brinton LA, Brotzman M, Bueno-de-Mesquita HB, Buring JE, Butler MA, Cai Q, Cancel-Tassin G, Canzian F, Cao G, Caporaso NE, Carrato A, Carreon T, Carta A, Chang GC, Chang IS, Chang-Claude J, Che X, Chen CJ, Chen CY, Chen CH, Chen C, Chen KY, Chen YM, Chokkalingam AP, Chu LW, Clavel-Chapelon F, Colditz GA, Colt JS, Conti D, Cook MB, Cortessis VK, Crawford ED, Cussenot O, Davis FG, De Vivo I, Deng X, Ding T, Dinney CP, Di Stefano AL, Diver WR, Duell EJ, Elena JW, Fan JH, Feigelson HS, Feychting M, Figueroa JD, Flanagan AM, Fraumeni JF, Freedman ND, Fridley BL, Fuchs CS, Gago-Dominguez M, Gallinger S, Gao YT, Gapstur SM, Garcia-Closas M, Garcia-Closas R, Gastier-Foster JM, Gaziano JM, Gerhard DS, Giffen CA, Giles GG, Gillanders EM, Giovannucci EL, Goggins M, Gokgoz N, Goldstein AM, Gonzalez C, Gorlick R, Greene MH, Gross M, Grossman HB, Grubb R, Gu J, Guan P, Haiman CA, Hallmans G, Hankinson SE, Harris CC, Hartge P, Hattinger C, Hayes RB, He Q, Helman L, Henderson BE, Henriksson R, Hoffman-Bolton J, Hohensee C, Holly EA, Hong YC, Hoover RN, Hosgood HD, Hsiao CF, Hsing AW, Hsiung CA, Hu N, Hu W, Hu Z, Huang MS, Hunter DJ, Inskip PD, Ito H, Jacobs EJ, Jacobs KB, Jenab M, Ji BT, Johansen C, Johansson M, Johnson A, Kaaks R, Kamat AM, Kamineni A, Karagas M, Khanna C, Khaw KT, Kim C, Kim IS, Kim JH, Kim YH, Kim YC, Kim YT, Kang CH, Jung YJ, Kitahara CM, Klein AP, Klein R, Kogevinas M, Koh WP, Kohno T, Kolonel LN, Kooperberg C, Kratz CP, Krogh V, Kunitoh H, Kurtz RC, Kurucu N, Lan Q, Lathrop M, Lau CC, Lecanda F, Lee KM, Lee MP, Le Marchand L, Lerner SP, Li D, Liao LM, Lim WY, Lin D, Lin J, Lindstrom S, Linet MS, Lissowska J, Liu J, Ljungberg B, Lloreta J, Lu D, Ma J, Malats N, Mannisto S, Marina N, Mastrangelo G, Matsuo K, McGlynn KA, McKean-Cowdin R, McNeill LH, McWilliams RR, Melin BS, Meltzer PS, Mensah JE, Miao X, Michaud DS, Mondul AM, Moore LE, Muir K, Niwa S, Olson SH, Orr N, Panico S, Park JY, Patel AV, Patino-Garcia A, Pavanello S, Peeters PH, Peplonska B, Peters U, Petersen GM, Picci P, Pike MC, Porru S, Prescott J, Pu X, Purdue MP, Qiao YL, Rajaraman P, Riboli E, Risch HA, Rodabough RJ, Rothman N, Ruder AM, Ryu JS, Sanson M, Schned A, Schumacher FR, Schwartz AG, Schwartz KL, Schwenn M, Scotlandi K, Seow A, Serra C, Serra M, Sesso HD, Severi G, Shen H, Shen M, Shete S, Shiraishi K, Shu XO, Siddiq A, Sierrasesumaga L, Sierri S, Loon Sihoe AD, Silverman DT, Simon M, Southey MC, Spector L, Spitz M, Stampfer M, Stattin P, Stern MC, Stevens VL, Stolzenberg-Solomon RZ, Stram DO, Strom SS, Su WC, Sund M, Sung SW, Swerdlow A, Tan W, Tanaka H, Tang W, Tang ZZ, Tardon A, Tay E, Taylor PR, Tettey Y, Thomas DM, Tirabosco R, Tjonneland A, Tobias GS, Toro JR, Travis RC, Trichopoulos D, Troisi R, Truelove A, Tsai YH, Tucker MA, Tumino R, Van Den Berg D, Van Den Eeden SK, Vermeulen R, Vineis P, Visvanathan K, Vogel U, Wang C, Wang C, Wang J, Wang SS, Weiderpass E, Weinstein SJ, Wentzensen N, Wheeler W, White E, Wiencke JK, Wolk A, Wolpin BM, Wong MP, Wrensch M, Wu C, Wu T, Wu X, Wu YL, Wunder JS, Xiang YB, Xu J, Yang HP, Yang PC, Yatabe Y, Ye Y, Yeboah ED, Yin Z, Ying C, Yu CJ, Yu K, Yuan JM, Zanetti KA, Zeleniuch-Jacquotte A, Zheng W, Zhou B, Mirabello L, Savage SA, Kraft P, Chanock SJ, Yeager M, Landi MT, Shi J, Chatterjee N, Amundadottir LT. Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33. Human Molecular Genetics 2014, 23: 6616-6633. PMID: 25027329, PMCID: PMC4240198, DOI: 10.1093/hmg/ddu363.Peer-Reviewed Original ResearchMeSH KeywordsAllelesChromosomes, Human, Pair 5Computational BiologyDNA MethylationEpigenesis, GeneticFemaleGene Expression Regulation, NeoplasticGene FrequencyGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMembrane ProteinsNeoplasm ProteinsNeoplasmsOdds RatioPolymorphism, Single NucleotideRiskTelomeraseConceptsGenome-wide association studiesIndependent risk lociRisk lociCLPTM1L geneSequential conditional analysesTERT-CLPTM1L regionAllele-specific effectsDistinct cancersCommon susceptibility allelesCancer susceptibility lociTelomerase reverse transcriptaseCommon single nucleotide polymorphismsGenetic architectureCatalytic subunitSingle nucleotide polymorphismsDNA methylationIndependent lociExtensive pleiotropyGene expressionAssociation studiesAssociation analysisSusceptibility lociDifferent cancer typesLociTERT geneExome-Wide Association Study of Endometrial Cancer in a Multiethnic Population
Chen MM, Crous-Bou M, Setiawan VW, Prescott J, Olson SH, Wentzensen N, Black A, Brinton L, Chen C, Chen C, Cook LS, Doherty J, Friedenreich CM, Hankinson SE, Hartge P, Henderson BE, Hunter DJ, Le Marchand L, Liang X, Lissowska J, Lu L, Orlow I, Petruzella S, Polidoro S, Pooler L, Rebbeck TR, Risch H, Sacerdote C, Schumacher F, Sheng X, Shu XO, Weiss NS, Xia L, Van Den Berg D, Yang HP, Yu H, Chanock S, Haiman C, Kraft P, De Vivo I. Exome-Wide Association Study of Endometrial Cancer in a Multiethnic Population. PLOS ONE 2014, 9: e97045. PMID: 24810602, PMCID: PMC4014590, DOI: 10.1371/journal.pone.0097045.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesExome-wide association studyAssociation studiesPrevious genome-wide association studyRare genetic variantsRare variantsHumanExome BeadChipGenetic variantsCommon variantsEndometrial cancerEC riskGenetic factorsEC pathogenesisGlobal significanceVariantsMultiethnic populationRisk of ECBeadChipEndometrial Cancer ConsortiumLociLarge effectCancer morbidityRisk factors
2013
A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus
Levine DM, Ek WE, Zhang R, Liu X, Onstad L, Sather C, Lao-Sirieix P, Gammon MD, Corley DA, Shaheen NJ, Bird NC, Hardie LJ, Murray LJ, Reid BJ, Chow WH, Risch HA, Nyrén O, Ye W, Liu G, Romero Y, Bernstein L, Wu AH, Casson AG, Chanock SJ, Harrington P, Caldas I, Debiram-Beecham I, Caldas C, Hayward NK, Pharoah PD, Fitzgerald RC, MacGregor S, Whiteman DC, Vaughan TL. A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus. Nature Genetics 2013, 45: 1487-1493. PMID: 24121790, PMCID: PMC3840115, DOI: 10.1038/ng.2796.Peer-Reviewed Original ResearchGenome-wide association study of endometrial cancer in E2C2
De Vivo I, Prescott J, Setiawan VW, Olson SH, Wentzensen N, The Australian National Endometrial Cancer Study Group, Attia J, Black A, Brinton L, Chen C, Chen C, Cook LS, Crous-Bou M, Doherty J, Dunning AM, Easton DF, Friedenreich CM, Garcia-Closas M, Gaudet MM, Haiman C, Hankinson SE, Hartge P, Henderson BE, Holliday E, Horn-Ross PL, Hunter DJ, Le Marchand L, Liang X, Lissowska J, Long J, Lu L, Magliocco AM, McEvoy M, O’Mara T, Orlow I, Painter JN, Pooler L, Rastogi R, Rebbeck TR, Risch H, Sacerdote C, Schumacher F, Scott RJ, Sheng X, Shu XO, Spurdle AB, Thompson D, VanDen Berg D, Weiss NS, Xia L, Xiang YB, Yang HP, Yu H, Zheng W, Chanock S, Kraft P. Genome-wide association study of endometrial cancer in E2C2. Human Genetics 2013, 133: 211-224. PMID: 24096698, PMCID: PMC3898362, DOI: 10.1007/s00439-013-1369-1.Peer-Reviewed Original ResearchMeSH KeywordsAgedAsian PeopleBlack or African AmericanCase-Control StudiesCohort StudiesEndometrial NeoplasmsFemaleGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHepatocyte Nuclear Factor 1-betaHumansMiddle AgedPolymorphism, Single NucleotideRisk FactorsUnited StatesWhite PeopleConceptsGenome-wide association studiesSingle nucleotide polymorphismsTwo-stage genome-wide association studyAssociation studiesGenome-wide significanceIndependent single nucleotide polymorphismsNovel genetic polymorphismsHNF1B locusGenetic markersEuropean ancestryNovel variantsGenetic polymorphismsGenetic factorsEC susceptibilityPolymorphismLociCommon gynecological malignancyE2C2AncestryReplicationCancerVariants