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 ResearchMeSH KeywordsGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleNeoplasmsPolymorphism, Single NucleotideRisk FactorsTranscriptomeConceptsGenome-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
Polygenic risk modeling for prediction of epithelial ovarian cancer risk
Dareng EO, Tyrer JP, Barnes DR, Jones MR, Yang X, Aben KKH, Adank MA, Agata S, Andrulis IL, Anton-Culver H, Antonenkova NN, Aravantinos G, Arun BK, Augustinsson A, Balmaña J, Bandera EV, Barkardottir RB, Barrowdale D, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Bjorge L, Black A, Bogdanova NV, Bonanni B, Borg A, Brenton JD, Budzilowska A, Butzow R, Buys SS, Cai H, Caligo MA, Campbell I, Cannioto R, Cassingham H, Chang-Claude J, Chanock SJ, Chen K, Chiew YE, Chung WK, Claes KBM, Colonna S, Cook L, Couch F, Daly M, Dao F, Davies E, de la Hoya M, de Putter R, Dennis J, DePersia A, Devilee P, Diez O, Ding Y, Doherty J, Domchek S, Dörk T, du Bois A, Dürst M, Eccles D, Eliassen H, Engel C, Evans G, Fasching P, Flanagan J, Fortner R, Machackova E, Friedman E, Ganz P, Garber J, Gensini F, Giles G, Glendon G, Godwin A, Goodman M, Greene M, Gronwald J, Hahnen E, Haiman C, Håkansson N, Hamann U, Hansen T, Harris H, Hartman M, Heitz F, Hildebrandt M, Høgdall E, Høgdall C, Hopper J, Huang R, Huff C, Hulick P, Huntsman D, Imyanitov E, Isaacs C, Jakubowska A, James P, Janavicius R, Jensen A, Johannsson O, John E, Jones M, Kang D, Karlan B, Karnezis A, Kelemen L, Khusnutdinova E, Kiemeney L, Kim B, Kjaer S, Komenaka I, Kupryjanczyk J, Kurian A, Kwong A, Lambrechts D, Larson M, Lazaro C, Le N, Leslie G, Lester J, Lesueur F, Levine D, Li L, Li J, Loud J, Lu K, Lubiński J, Mai P, Manoukian S, Marks J, Matsuno R, Matsuo K, May T, McGuffog L, McLaughlin J, McNeish I, Mebirouk N, Menon U, Miller A, Milne R, Minlikeeva A, Modugno F, Montagna M, Moysich K, Munro E, Nathanson K, Neuhausen S, Nevanlinna H, Yie J, Nielsen H, Nielsen F, Nikitina-Zake L, Odunsi K, Offit K, Olah E, Olbrecht S, Olopade O, Olson S, Olsson H, Osorio A, Papi L, Park S, Parsons M, Pathak H, Pedersen I, Peixoto A, Pejovic T, Perez-Segura P, Permuth J, Peshkin B, Peterlongo P, Piskorz A, Prokofyeva D, Radice P, Rantala J, Riggan M, Risch H, Rodriguez-Antona C, Ross E, Rossing M, Runnebaum I, Sandler D, Santamariña M, Soucy P, Schmutzler R, Setiawan V, Shan K, Sieh W, Simard J, Singer C, Sokolenko A, Song H, Southey M, Steed H, Stoppa-Lyonnet D, Sutphen R, Swerdlow A, Tan Y, Teixeira M, Teo S, Terry K, Terry M, Thomassen M, Thompson P, Thomsen L, Thull D, Tischkowitz M, Titus L, Toland A, Torres D, Trabert B, Travis R, Tung N, Tworoger S, Valen E, van Altena A, van der Hout A, Van Nieuwenhuysen E, van Rensburg E, Vega A, Edwards D, Vierkant R, Wang F, Wappenschmidt B, Webb P, Weinberg C, Weitzel J, Wentzensen N, White E, Whittemore A, Winham S, Wolk A, Woo Y, Wu A, Yan L, Yannoukakos D, Zavaglia K, Zheng W, Ziogas A, Zorn K, Kleibl Z, Easton D, Lawrenson K, DeFazio A, Sellers T, Ramus S, Pearce C, Monteiro A, Cunningham J, Goode E, Schildkraut J, Berchuck A, Chenevix-Trench G, Gayther S, Antoniou A, Pharoah P. Polygenic risk modeling for prediction of epithelial ovarian cancer risk. European Journal Of Human Genetics 2022, 30: 349-362. PMID: 35027648, PMCID: PMC8904525, DOI: 10.1038/s41431-021-00987-7.Peer-Reviewed Original Research
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 ResearchMeSH KeywordsCase-Control StudiesChymotrypsinGenome-Wide Association StudyGenotypeHumansPancreatic NeoplasmsPolymorphism, Single NucleotideQuantitative Trait LociSequence DeletionConceptsGenome-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
Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers
Zhang YD, Hurson AN, Zhang H, Choudhury PP, Easton DF, Milne RL, Simard J, Hall P, Michailidou K, Dennis J, Schmidt MK, Chang-Claude J, Gharahkhani P, Whiteman D, Campbell PT, Hoffmeister M, Jenkins M, Peters U, Hsu L, Gruber SB, Casey G, Schmit SL, O’Mara T, Spurdle AB, Thompson DJ, Tomlinson I, De Vivo I, Landi MT, Law MH, Iles MM, Demenais F, Kumar R, MacGregor S, Bishop DT, Ward SV, Bondy ML, Houlston R, Wiencke JK, Melin B, Barnholtz-Sloan J, Kinnersley B, Wrensch MR, Amos CI, Hung RJ, Brennan P, McKay J, Caporaso NE, Berndt SI, Birmann BM, Camp NJ, Kraft P, Rothman N, Slager SL, Berchuck A, Pharoah PDP, Sellers TA, Gayther SA, Pearce CL, Goode EL, Schildkraut JM, Moysich KB, Amundadottir LT, Jacobs EJ, Klein AP, Petersen GM, Risch HA, Stolzenberg-Solomon RZ, Wolpin BM, Li D, Eeles RA, Haiman CA, Kote-Jarai Z, Schumacher FR, Al Olama AA, Purdue MP, Scelo G, Dalgaard MD, Greene MH, Grotmol T, Kanetsky PA, McGlynn KA, Nathanson KL, Turnbull C, Wiklund F, Chanock S, Chatterjee N, Garcia-Closas M. Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers. Nature Communications 2020, 11: 3353. PMID: 32620889, PMCID: PMC7335068, DOI: 10.1038/s41467-020-16483-3.Peer-Reviewed Original ResearchGenome-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 cancerPopulationA 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 ResearchMeSH KeywordsDatabases, GeneticGene ExpressionGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansPancreatic NeoplasmsPolymorphism, Single NucleotideQuantitative Trait LociTranscriptomeConceptsTranscriptome-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 tissuesFine-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
Functional analysis and fine mapping of the 9p22.2 ovarian cancer susceptibility locus
Buckley MA, Woods NT, Tyrer JP, Mendoza-Fandiño G, Lawrenson K, Hazelett DJ, Najafabadi HS, Gjyshi A, Carvalho RS, Lyra PC, Coetzee SG, Shen HC, Yang AW, Earp MA, Yoder S, Risch H, Chenevix-Trench G, Ramus SJ, Phelan CM, Coetzee GA, Noushmehr H, Hughes TR, Sellers TA, Goode EL, Pharoah P, Gayther SA, Monteiro A. Functional analysis and fine mapping of the 9p22.2 ovarian cancer susceptibility locus. Cancer Research 2019, 79: canres.3864.2017. PMID: 30487138, PMCID: PMC6359979, DOI: 10.1158/0008-5472.can-17-3864.Peer-Reviewed Original ResearchMeSH KeywordsBase SequenceCarcinoma, Ovarian EpithelialCell Cycle ProteinsCell Line, TumorChromosome MappingChromosomes, Human, Pair 9Cystadenocarcinoma, SerousDNA, 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 genesNo Association Between Vitamin D Status and Risk of Barrett's Esophagus or Esophageal Adenocarcinoma: A Mendelian Randomization Study
Dong J, Gharahkhani P, Chow WH, Gammon MD, Liu G, Caldas C, Wu AH, Ye W, Onstad L, Anderson LA, Bernstein L, Pharoah PD, Risch HA, Corley DA, Fitzgerald RC, Consortium S, Iyer PG, Reid BJ, Lagergren J, Shaheen NJ, Vaughan TL, MacGregor S, Love S, Palles C, Tomlinson I, Gockel I, May A, Gerges C, Anders M, Böhmer AC, Becker J, Kreuser N, Thieme R, Noder T, Venerito M, Veits L, Schmidt T, Schmidt C, Izbicki JR, Hölscher AH, Lang H, Lorenz D, Schumacher B, Mayershofer R, Vashist Y, Ott K, Vieth M, Weismüller J, Nöthen MM, Moebus S, Knapp M, Peters WHM, Neuhaus H, Rösch T, Ell C, Jankowski J, Schumacher J, Neale RE, Whiteman DC, Thrift AP. No Association Between Vitamin D Status and Risk of Barrett's Esophagus or Esophageal Adenocarcinoma: A Mendelian Randomization Study. Clinical Gastroenterology And Hepatology 2019, 17: 2227-2235.e1. PMID: 30716477, PMCID: PMC6675666, DOI: 10.1016/j.cgh.2019.01.041.Peer-Reviewed Original ResearchConceptsRisk of BEMendelian randomization studyBarrett's esophagusEsophageal adenocarcinomaInverse variance weightingRandomization studyRisk of EACHydroxy vitamin DVitamin D statusVariance weightingEsophageal Adenocarcinoma ConsortiumD statusEAC riskVitamin DOdds ratioBE riskEsophagusAbstractTextL increaseSingle nucleotide polymorphismsConflicting resultsAdenocarcinomaPatientsSNP associationsRiskShared heritability and functional enrichment across six solid cancers
Jiang X, Finucane HK, Schumacher FR, Schmit SL, Tyrer JP, Han Y, Michailidou K, Lesseur C, Kuchenbaecker KB, Dennis J, Conti DV, Casey G, Gaudet MM, Huyghe JR, Albanes D, Aldrich MC, Andrew AS, Andrulis IL, Anton-Culver H, Antoniou AC, Antonenkova NN, Arnold SM, Aronson KJ, Arun BK, Bandera EV, Barkardottir RB, Barnes DR, Batra J, Beckmann MW, Benitez J, Benlloch S, Berchuck A, Berndt SI, Bickeböller H, Bien SA, Blomqvist C, Boccia S, Bogdanova NV, Bojesen SE, Bolla MK, Brauch H, Brenner H, Brenton JD, Brook MN, Brunet J, Brunnström H, Buchanan DD, Burwinkel B, Butzow R, Cadoni G, Caldés T, Caligo MA, Campbell I, Campbell PT, Cancel-Tassin G, Cannon-Albright L, Campa D, Caporaso N, Carvalho AL, Chan AT, Chang-Claude J, Chanock SJ, Chen C, Christiani DC, Claes KBM, Claessens F, Clements J, Collée JM, Correa MC, Couch FJ, Cox A, Cunningham JM, Cybulski C, Czene K, Daly MB, deFazio A, Devilee P, Diez O, Gago-Dominguez M, Donovan JL, Dörk T, Duell EJ, Dunning AM, Dwek M, Eccles DM, Edlund CK, Edwards DRV, Ellberg C, Evans DG, Fasching PA, Ferris RL, Liloglou T, Figueiredo JC, Fletcher O, Fortner RT, Fostira F, Franceschi S, Friedman E, Gallinger SJ, Ganz PA, Garber J, García-Sáenz JA, Gayther SA, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, Goode EL, Goodman MT, Goodman G, Grankvist K, Greene MH, Gronberg H, Gronwald J, Guénel P, Håkansson N, Hall P, Hamann U, Hamdy FC, Hamilton RJ, Hampe J, Haugen A, Heitz F, Herrero R, Hillemanns P, Hoffmeister M, Høgdall E, Hong YC, Hopper JL, Houlston R, Hulick PJ, Hunter DJ, Huntsman DG, Idos G, Imyanitov EN, Ingles SA, Isaacs C, Jakubowska A, James P, Jenkins MA, Johansson M, Johansson M, John EM, Joshi AD, Kaneva R, Karlan BY, Kelemen LE, Kühl T, Khaw KT, Khusnutdinova E, Kibel AS, Kiemeney LA, Kim J, Kjaer SK, Knight JA, Kogevinas M, Kote-Jarai Z, Koutros S, Kristensen VN, Kupryjanczyk J, Lacko M, Lam S, Lambrechts D, Landi MT, Lazarus P, Le ND, Lee E, Lejbkowicz F, Lenz HJ, Leslie G, Lessel D, Lester J, Levine DA, Li L, Li CI, Lindblom A, Lindor NM, Liu G, Loupakis F, Lubiński J, Maehle L, Maier C, Mannermaa A, Marchand LL, Margolin S, May T, McGuffog L, Meindl A, Middha P, Miller A, Milne RL, MacInnis RJ, Modugno F, Montagna M, Moreno V, Moysich KB, Mucci L, Muir K, Mulligan AM, Nathanson KL, Neal DE, Ness AR, Neuhausen SL, Nevanlinna H, Newcomb PA, Newcomb LF, Nielsen FC, Nikitina-Zake L, Nordestgaard BG, Nussbaum RL, Offit K, Olah E, Olama AAA, Olopade OI, Olshan AF, Olsson H, Osorio A, Pandha H, Park JY, Pashayan N, Parsons MT, Pejovic T, Penney KL, Peters WHM, Phelan CM, Phipps AI, Plaseska-Karanfilska D, Pring M, Prokofyeva D, Radice P, Stefansson K, Ramus SJ, Raskin L, Rennert G, Rennert HS, van Rensburg EJ, Riggan MJ, Risch HA, Risch A, Roobol MJ, Rosenstein BS, Rossing MA, De Ruyck K, Saloustros E, Sandler DP, Sawyer EJ, Schabath MB, Schleutker J, Schmidt MK, Setiawan VW, Shen H, Siegel EM, Sieh W, Singer CF, Slattery ML, Sorensen KD, Southey MC, Spurdle AB, Stanford JL, Stevens VL, Stintzing S, Stone J, Sundfeldt K, Sutphen R, Swerdlow AJ, Tajara EH, Tangen CM, Tardon A, Taylor JA, Teare MD, Teixeira MR, Terry MB, Terry KL, Thibodeau SN, Thomassen M, Bjørge L, Tischkowitz M, Toland AE, Torres D, Townsend PA, Travis RC, Tung N, Tworoger SS, Ulrich CM, Usmani N, Vachon CM, Van Nieuwenhuysen E, Vega A, Aguado-Barrera ME, Wang Q, Webb PM, Weinberg CR, Weinstein S, Weissler MC, Weitzel JN, West CML, White E, Whittemore AS, Wichmann HE, Wiklund F, Winqvist R, Wolk A, Woll P, Woods M, Wu AH, Wu X, Yannoukakos D, Zheng W, Zienolddiny S, Ziogas A, Zorn KK, Lane JM, Saxena R, Thomas D, Hung RJ, Diergaarde B, McKay J, Peters U, Hsu L, García-Closas M, Eeles RA, Chenevix-Trench G, Brennan PJ, Haiman CA, Simard J, Easton DF, Gruber SB, Pharoah PDP, Price AL, Pasaniuc B, Amos CI, Kraft P, Lindström S. Shared heritability and functional enrichment across six solid cancers. Nature Communications 2019, 10: 431. PMID: 30683880, PMCID: PMC6347624, DOI: 10.1038/s41467-018-08054-4.Peer-Reviewed Original ResearchMeSH KeywordsBreast NeoplasmsCase-Control StudiesColorectal NeoplasmsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHead and Neck NeoplasmsHumansInheritance PatternsLung NeoplasmsMaleMental DisordersNeoplasm ProteinsOvarian NeoplasmsPhenotypePolymorphism, Single NucleotideProstatic NeoplasmsSmokingWhite PeopleConceptsHead/neck cancerHead/neckColorectal cancerLung cancerNeck cancerOvarian cancerProstate cancerSolid cancersGenetic correlationsPsychiatric diseasesSolid tumorsMultiple cancersCancerCancer etiologyCancer typesBreastFunctional enrichment analysisMetabolic characteristicsGenome-wide association study summary statisticsLungDiseaseSignificant genetic correlationsEuropean ancestryEnrichment analysisFunctional enrichment
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 ResearchMeSH KeywordsCarcinoma, Pancreatic DuctalCase-Control StudiesGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansModels, StatisticalPancreatic NeoplasmsPolymorphism, Single NucleotideConceptsGenome-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 dataGenesrs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology
Kelemen LE, Earp M, Fridley BL, Chenevix-Trench G, Group O, Fasching PA, Beckmann MW, Ekici AB, Hein A, Lambrechts D, Lambrechts S, Van Nieuwenhuysen E, Vergote I, Rossing MA, Doherty JA, Chang-Claude J, Behrens S, Moysich KB, Cannioto R, Lele S, Odunsi K, Goodman MT, Shvetsov YB, Thompson PJ, Wilkens LR, Dörk T, Antonenkova N, Bogdanova N, Hillemanns P, Runnebaum IB, du Bois A, Harter P, Heitz F, Schwaab I, Butzow R, Pelttari LM, Nevanlinna H, Modugno F, Edwards RP, Kelley JL, Ness RB, Karlan BY, Lester J, Orsulic S, Walsh C, Kjaer SK, Jensen A, Cunningham JM, Vierkant RA, Giles GG, Bruinsma F, Southey MC, Hildebrandt MAT, Liang D, Lu K, Wu X, Sellers TA, Levine DA, Schildkraut JM, Iversen ES, Terry KL, Cramer DW, Tworoger SS, Poole EM, Bandera EV, Olson SH, Orlow I, Thomsen L, Bjorge L, Krakstad C, Tangen IL, Kiemeney LA, Aben KKH, Massuger LFAG, van Altena AM, Pejovic T, Bean Y, Kellar M, Cook LS, Le ND, Brooks-Wilson A, Gronwald J, Cybulski C, Jakubowska A, Lubiński J, Wentzensen N, Brinton LA, Lissowska J, Hogdall E, Engelholm SA, Hogdall C, Lundvall L, Nedergaard L, Pharoah PDP, Dicks E, Song H, Tyrer JP, McNeish I, Siddiqui N, Carty K, Glasspool R, Paul J, Campbell IG, Eccles D, Whittemore AS, McGuire V, Rothstein JH, Sieh W, Narod SA, Phelan CM, McLaughlin JR, Risch HA, Anton-Culver H, Ziogas A, Menon U, Gayther SA, Gentry-Maharaj A, Ramus SJ, Wu AH, Pearce CL, Lee AW, Pike MC, Kupryjanczyk J, Podgorska A, Plisiecka-Halasa J, Sawicki W, Goode EL, Berchuck A, Consortium O. rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology. International Journal Of Molecular Sciences 2018, 19: 2473. PMID: 30134598, PMCID: PMC6163881, DOI: 10.3390/ijms19092473.Peer-Reviewed Original ResearchAdenocarcinoma, MucinousCase-Control StudiesFemaleGene Expression Regulation, NeoplasticGenetic Association StudiesHumansHydro-LyasesLogistic ModelsMiddle AgedOdds RatioOvarian NeoplasmsPolymorphism, Single NucleotideProteinsQuantitative Trait LociRiskRNA, AntisenseSignal TransductionThymidylate SynthaseIdentification of nine new susceptibility loci for endometrial cancer
O’Mara T, Glubb DM, Amant F, Annibali D, Ashton K, Attia J, Auer PL, Beckmann MW, Black A, Bolla MK, Brauch H, Brenner H, Brinton L, Buchanan DD, Burwinkel B, Chang-Claude J, Chanock SJ, Chen C, Chen MM, Cheng THT, Clarke CL, Clendenning M, Cook LS, Couch FJ, Cox A, Crous-Bous M, Czene K, Day F, Dennis J, Depreeuw J, Doherty JA, Dörk T, Dowdy SC, Dürst M, Ekici AB, Fasching PA, Fridley BL, Friedenreich CM, Fritschi L, Fung J, García-Closas M, Gaudet MM, Giles GG, Goode EL, Gorman M, Haiman CA, Hall P, Hankison SE, Healey CS, Hein A, Hillemanns P, Hodgson S, Hoivik EA, Holliday EG, Hopper JL, Hunter DJ, Jones A, Krakstad C, Kristensen VN, Lambrechts D, Marchand LL, Liang X, Lindblom A, Lissowska J, Long J, Lu L, Magliocco AM, Martin L, McEvoy M, Meindl A, Michailidou K, Milne RL, Mints M, Montgomery GW, Nassir R, Olsson H, Orlow I, Otton G, Palles C, Perry JRB, Peto J, Pooler L, Prescott J, Proietto T, Rebbeck TR, Risch HA, Rogers PAW, Rübner M, Runnebaum I, Sacerdote C, Sarto GE, Schumacher F, Scott RJ, Setiawan VW, Shah M, Sheng X, Shu XO, Southey MC, Swerdlow AJ, Tham E, Trovik J, Turman C, Tyrer JP, Vachon C, VanDen Berg D, Vanderstichele A, Wang Z, Webb PM, Wentzensen N, Werner HMJ, Winham SJ, Wolk A, Xia L, Xiang YB, Yang HP, Yu H, Zheng W, Pharoah PDP, Dunning AM, Kraft P, De Vivo I, Tomlinson I, Easton DF, Spurdle AB, Thompson DJ. Identification of nine new susceptibility loci for endometrial cancer. Nature Communications 2018, 9: 3166. PMID: 30093612, PMCID: PMC6085317, DOI: 10.1038/s41467-018-05427-7.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesCandidate causal genesCausal genesNovel genome-wide significant lociRisk lociEndometrial cancer risk lociGenome-wide significant lociExpression quantitative trait loci (eQTL) analysisQuantitative trait locus (QTL) analysisSignal transduction proteinsCancer risk lociNew susceptibility lociTransduction proteinsSignificant lociLocus analysisNegative regulatorAssociation studiesFemale reproductive tractSusceptibility lociLoci associateLociGenesDecreased expressionReproductive tractRisk allelesVariants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility
Earp M, Tyrer JP, Winham SJ, Lin HY, Chornokur G, Dennis J, Aben KKH, Anton‐Culver H, Antonenkova N, Bandera EV, Bean YT, Beckmann MW, Bjorge L, Bogdanova N, Brinton LA, Brooks-Wilson A, Bruinsma F, Bunker CH, Butzow R, Campbell IG, Carty K, Chang-Claude J, Cook LS, Cramer DW, Cunningham JM, Cybulski C, Dansonka-Mieszkowska A, Despierre E, Doherty JA, Dörk T, du Bois A, Dürst M, Easton DF, Eccles DM, Edwards RP, Ekici AB, Fasching PA, Fridley BL, Gentry-Maharaj A, Giles GG, Glasspool R, Goodman MT, Gronwald J, Harter P, Hein A, Heitz F, Hildebrandt MAT, Hillemanns P, Hogdall CK, Høgdall E, Hosono S, Iversen ES, Jakubowska A, Jensen A, Ji BT, Jung AY, Karlan BY, Kellar M, Kiemeney LA, Lim B, Kjaer SK, Krakstad C, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le ND, Lele S, Lester J, Levine DA, Li Z, Liang D, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger LFAG, Matsuo K, McGuire V, McLaughlin JR, McNeish I, Menon U, Milne RL, Modugno F, Moysich KB, Ness RB, Nevanlinna H, Odunsi K, Olson SH, Orlow I, Orsulic S, Paul J, Pejovic T, Pelttari LM, Permuth JB, Pike MC, Poole EM, Rosen B, Rossing MA, Rothstein JH, Runnebaum IB, Rzepecka IK, Schernhammer E, Schwaab I, Shu XO, Shvetsov YB, Siddiqui N, Sieh W, Song H, Southey MC, Spiewankiewicz B, Sucheston-Campbell L, Tangen IL, Teo SH, Terry KL, Thompson PJ, Thomsen L, Tworoger SS, van Altena AM, Vergote I, Thomsen L, Vierkant RA, Walsh CS, Wang-Gohrke S, Wentzensen N, Whittemore AS, Wicklund KG, Wilkens LR, Woo YL, Wu AH, Wu X, Xiang YB, Yang H, Zheng W, Ziogas A, Lee AW, Pearce CL, Berchuck A, Schildkraut JM, Ramus SJ, Monteiro ANA, Narod SA, Sellers TA, Gayther SA, Kelemen LE, Chenevix-Trench G, Risch HA, Pharoah PDP, Goode EL, Phelan CM. Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility. PLOS ONE 2018, 13: e0197561. PMID: 29979793, PMCID: PMC6034790, DOI: 10.1371/journal.pone.0197561.Peer-Reviewed Original ResearchConceptsFunctional annotationSmall GTPasesExpression quantitative trait lociPotential transcriptional regulatory functionTranscriptional regulatory functionQuantitative trait lociEpithelial ovarian cancer susceptibilitySmall GTPase genesSuper-enhancer regionsVesicle transportTrait lociGTPase genesSmall GTPSignal transductionCell motilityGenotype arraysRegulatory functionsNormal ovarian physiologyOvarian cancer susceptibilityVariants of interestRisk variantsEOC riskGermline variationGenesGTPasesPancreatic cancer risk is modulated by inflammatory potential of diet and ABO genotype: a consortia-based evaluation and replication study
Antwi SO, Bamlet WR, Pedersen KS, Chaffee KG, Risch HA, Shivappa N, Steck SE, Anderson KE, Bracci PM, Polesel J, Serraino D, La Vecchia C, Bosetti C, Li D, Oberg AL, Arslan AA, Albanes D, Duell EJ, Huybrechts I, Amundadottir LT, Hoover R, Mannisto S, Chanock S, Zheng W, Shu XO, Stepien M, Canzian F, Bueno-de-Mesquita B, Quirós JR, Zeleniuch-Jacquotte A, Bruinsma F, Milne RL, Giles GG, Hébert JR, Stolzenberg-Solomon RZ, Petersen GM. Pancreatic cancer risk is modulated by inflammatory potential of diet and ABO genotype: a consortia-based evaluation and replication study. Carcinogenesis 2018, 39: 1056-1067. PMID: 29800239, PMCID: PMC6067129, DOI: 10.1093/carcin/bgy072.Peer-Reviewed Original ResearchConceptsNon-O blood typeCase-control studyABO blood typePancreatic cancerPC riskInflammatory potentialBlood typeOdds ratioEnergy-adjusted dietary inflammatory index (E-DII) scoreDietary Inflammatory Index scoresNutrient/food intakeMultivariable-adjusted logistic regressionHigher E-DII scoresInflammatory index scorePro-inflammatory dietE-DII scoresPancreatic Cancer Case-Control ConsortiumConfidence intervalsPancreatic cancer riskPooled odds ratioGreater inflammatory potentialPancreatic Cancer Cohort ConsortiumHigh inflammatory potentialDII quintilesPooled analysisInteractions Between Genetic Variants and Environmental Factors Affect Risk of Esophageal Adenocarcinoma and Barrett’s Esophagus
Dong J, Levine DM, Buas MF, Zhang R, Onstad L, Fitzgerald RC, Consortium S, Corley DA, Shaheen NJ, Lagergren J, Hardie LJ, Reid BJ, Iyer PG, Risch HA, Caldas C, Caldas I, Pharoah PD, Liu G, Gammon MD, Chow WH, Bernstein L, Bird NC, Ye W, Wu AH, Anderson LA, MacGregor S, Whiteman DC, Vaughan TL, Thrift AP. Interactions Between Genetic Variants and Environmental Factors Affect Risk of Esophageal Adenocarcinoma and Barrett’s Esophagus. Clinical Gastroenterology And Hepatology 2018, 16: 1598-1606.e4. PMID: 29551738, PMCID: PMC6162842, DOI: 10.1016/j.cgh.2018.03.007.Peer-Reviewed Original ResearchConceptsRisk of EACGastroesophageal reflux diseaseBarrett's esophagusEsophageal adenocarcinomaGERD symptomsWide association studySmoking statusSymptoms of GERDChromosome 1p34.3Environmental factorsChromosome 2p25.1Association of BMIChromosome 1Borderline significant interactionAssociation studiesGene studiesOesophageal cancer studiesSusceptibility lociCase-control logistic regressionGenesChromosome 15q14Genetic variantsReflux diseaseSmoking historyBMI measurementsGenome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer
Klein AP, Wolpin BM, Risch HA, Stolzenberg-Solomon RZ, Mocci E, Zhang M, Canzian F, Childs EJ, Hoskins JW, Jermusyk A, Zhong J, Chen F, Albanes D, Andreotti G, Arslan AA, Babic A, Bamlet WR, Beane-Freeman L, Berndt SI, Blackford A, Borges M, Borgida A, Bracci PM, Brais L, Brennan P, Brenner H, Bueno-de-Mesquita B, Buring J, Campa D, Capurso G, Cavestro GM, Chaffee KG, Chung CC, Cleary S, Cotterchio M, Dijk F, Duell EJ, Foretova L, Fuchs C, Funel N, Gallinger S, M. Gaziano JM, Gazouli M, Giles GG, Giovannucci E, Goggins M, Goodman GE, Goodman PJ, Hackert T, Haiman C, Hartge P, Hasan M, Hegyi P, Helzlsouer KJ, Herman J, Holcatova I, Holly EA, Hoover R, Hung RJ, Jacobs EJ, Jamroziak K, Janout V, Kaaks R, Khaw KT, Klein EA, Kogevinas M, Kooperberg C, Kulke MH, Kupcinskas J, Kurtz RJ, Laheru D, Landi S, Lawlor RT, Lee I, LeMarchand L, Lu L, Malats N, Mambrini A, Mannisto S, Milne RL, Mohelníková-Duchoňová B, Neale RE, Neoptolemos JP, Oberg AL, Olson SH, Orlow I, Pasquali C, Patel AV, Peters U, Pezzilli R, Porta M, Real FX, Rothman N, Scelo G, Sesso HD, Severi G, Shu XO, Silverman D, Smith JP, Soucek P, Sund M, Talar-Wojnarowska R, Tavano F, Thornquist MD, Tobias GS, Van Den Eeden SK, Vashist Y, Visvanathan K, Vodicka P, Wactawski-Wende J, Wang Z, Wentzensen N, White E, Yu H, Yu K, Zeleniuch-Jacquotte A, Zheng W, Kraft P, Li D, Chanock S, Obazee O, Petersen GM, Amundadottir LT. Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer. Nature Communications 2018, 9: 556. PMID: 29422604, PMCID: PMC5805680, DOI: 10.1038/s41467-018-02942-5.Peer-Reviewed Original ResearchMeSH KeywordsCarcinoma, Pancreatic DuctalDatabases, GeneticGenetic Predisposition to DiseaseGenome-Wide Association StudyHepatocyte Nuclear Factor 1-betaHepatocyte Nuclear Factor 4HumansIntercellular Signaling Peptides and ProteinsIntracellular Signaling Peptides and ProteinsPancreatic NeoplasmsPolymorphism, Single NucleotideProteinsRepressor ProteinsTensinsConceptsNew genome-wide significant lociGenome-wide significant lociExpression quantitative trait loci (eQTL) analysisQuantitative trait locus (QTL) analysisPANcreatic Disease ReseArch (PANDoRA) consortiumNew susceptibility lociPancreatic cancer susceptibility genesCommon susceptibility allelesCancer susceptibility genesSignificant lociPancreatic Cancer Case-Control ConsortiumMolecular supportPancreatic Cancer Cohort ConsortiumLocus analysisSusceptibility lociSusceptibility genesSusceptibility allelesEuropean ancestryNovel associationsLociPancreatic cancerConsortiumGWASGenesAlleles
2017
Determining Risk of Barrett’s Esophagus and Esophageal Adenocarcinoma Based on Epidemiologic Factors and Genetic Variants
Dong J, Buas MF, Gharahkhani P, Kendall BJ, Onstad L, Zhao S, Anderson LA, Wu AH, Ye W, Bird NC, Bernstein L, Chow WH, Gammon MD, Liu G, Caldas C, Pharoah PD, Risch HA, Iyer PG, Reid BJ, Hardie LJ, Lagergren J, Shaheen NJ, Corley DA, Fitzgerald RC, consortium S, Whiteman DC, Vaughan TL, Thrift AP. Determining Risk of Barrett’s Esophagus and Esophageal Adenocarcinoma Based on Epidemiologic Factors and Genetic Variants. Gastroenterology 2017, 154: 1273-1281.e3. PMID: 29247777, PMCID: PMC5880715, DOI: 10.1053/j.gastro.2017.12.003.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaArea Under CurveAustraliaBarrett EsophagusCase-Control StudiesDatabases, FactualDecision Support TechniquesEsophageal NeoplasmsEuropeFemaleGene-Environment InteractionGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansLife StyleLogistic ModelsMaleMiddle AgedModels, GeneticMolecular EpidemiologyMultifactorial InheritanceNorth AmericaOdds RatioPhenotypePolymorphism, Single NucleotidePredictive Value of TestsRisk AssessmentRisk FactorsROC CurveConceptsGastroesophageal reflux diseaseBarrett's esophagusEsophageal adenocarcinomaLifestyle factorsPolygenic risk scoresGERD symptomsNon-genetic factorsDemographic/lifestyle factorsNet reclassification improvementCharacteristic curve analysisAUC valuesRisk prediction modelEsophageal cancer studyInternational Barrett'sReflux diseaseHighest quartileNet reclassificationEpidemiologic factorsReclassification improvementLowest quartileHigh riskRisk scorePatientsEsophagusAbstractTextAssessment of moderate coffee consumption and risk of epithelial ovarian cancer: a Mendelian randomization study
Ong J, Hwang L, Cuellar-Partida G, Martin N, Chenevix-Trench G, Quinn M, Cornelis M, Gharahkhani P, Webb P, MacGregor S, Ong J, Hwang L, Cuellar-Partida G, Bryne E, Fasching P, Hein A, Burghaus S, Beckmann M, Lambrechts D, Van Nieuwenhuysen E, Vergote I, Vanderstichele A, Swerdlow A, Jones M, Orr N, Schoemaker M, Edwards D, Brenton J, Benítez J, García M, Rodriguez-Antona C, Rossing M, Fortner R, Riboli E, Chang-Claude J, Eilber U, Wang-Gohrke S, Yannoukakos D, Goodman M, Bogdanova N, Dörk T, Duerst M, Hillemanns P, Runnebaum I, Antonenkova N, Butzow R, Nevanlinna H, Pelttari L, Edwards R, Kelley J, Modugno F, Moysich K, Ness R, Cannioto R, Heitz F, Karlan B, Olsson H, Kjaer S, Jensen A, Giles G, Bruinsma F, Hildebrandt M, Liang D, Wu X, Le Marchand L, Setiawan V, Permuth J, Bisogna M, Dao F, Levine D, Cramer D, Terry K, Tworoger S, Stampfer M, Willet W, Missmer S, Bjorge L, Kopperud R, Bischof K, Thomsen L, Kiemeney L, Massuger L, Pejovic T, Brooks-Wilson A, Olson S, McGuire V, Rothstein J, Sieh W, Whittemore A, Cook L, Le N, Gilks C, Gronwald J, Jakubowska A, Lubiński J, Kluz T, Wentzensen N, Brinton L, Trabert B, Lissowska J, Høgdall E, Høgdall C, Sandler D, Wolk A, Tyrer J, Song H, Eccles D, Campbell I, Glasspool R, McNeish I, Paul J, Siddiqui N, Sutphen R, McLaughlin J, Phelan C, Anton-Culver H, Ziogas A, May T, Gayther S, Gentry-Maharaj A, Menon U, Ramus S, Wu A, Huntsman D, deFazio A, Dansonka-Mieszkowska A, Kupryjanczyk J, Moes-Sosnowska J, Szafron L, Cunningham J, Winham S, Risch H, Goode E, Schildkraut J, Pearce C, Berchuck A, Pharoah P, Martin N, Chenevix-Trench G, Quinn M, Cornelis M, Gharahkhani P, Webb P, MacGregor S. Assessment of moderate coffee consumption and risk of epithelial ovarian cancer: a Mendelian randomization study. International Journal Of Epidemiology 2017, 47: 450-459. PMID: 29186515, PMCID: PMC6186013, DOI: 10.1093/ije/dyx236.Peer-Reviewed Original ResearchMeSH KeywordsCarcinoma, Ovarian EpithelialCoffeeFemaleHumansMendelian Randomization AnalysisOdds RatioOvarian NeoplasmsPolymorphism, Single NucleotideRisk FactorsConceptsEpithelial ovarian cancerOvarian Cancer Association ConsortiumOvarian cancerObservational studyCoffee consumptionEOC riskEOC casesHigh-grade serous epithelial ovarian cancerMendelian randomizationSerous epithelial ovarian cancerModerate coffee consumptionHigh-grade serous casesMendelian randomization studyTwo-sample Mendelian randomizationAdditional cupProtective associationCaffeine consumptionHealth outcomesEarlier observational studiesRandomization studySerous casesStrong associationSingle nucleotide polymorphismsCaffeine levelsCancer