2024
Genome-Wide Analysis to Assess if Heavy Alcohol Consumption Modifies the Association between SNPs and Pancreatic Cancer Risk.
Ni Z, Kundu P, McKean D, Wheeler W, Albanes D, Andreotti G, Antwi S, Arslan A, Bamlet W, Beane-Freeman L, Berndt S, Bracci P, Brennan P, Buring J, Chanock S, Gallinger S, Gaziano J, Giles G, Giovannucci E, Goggins M, Goodman P, Haiman C, Hassan M, Holly E, Hung R, Katzke V, Kooperberg C, Kraft P, LeMarchand L, Li D, McCullough M, Milne R, Moore S, Neale R, Oberg A, Patel A, Peters U, Rabe K, Risch H, Shu X, Smith-Byrne K, Visvanathan K, Wactawski-Wende J, White E, Wolpin B, Yu H, Zeleniuch-Jacquotte A, Zheng W, Zhong J, Amundadottir L, Stolzenberg-Solomon R, Klein A. Genome-Wide Analysis to Assess if Heavy Alcohol Consumption Modifies the Association between SNPs and Pancreatic Cancer Risk. Cancer Epidemiology Biomarkers & Prevention 2024, 33: 1229-1239. PMID: 38869494, DOI: 10.1158/1055-9965.epi-24-0096.Peer-Reviewed Original ResearchConceptsPancreatic cancer riskHeavy alcohol consumptionCancer riskSingle-nucleotide polymorphismsAlcohol consumptionExpression quantitative trait lociQuantitative trait lociAssociated with pancreatic cancer riskGenome-wide interaction analysisGenome-wide significant evidenceEtiology of pancreatic cancerFixed-effect meta-analysesGenomic regionsGenome-wide significant evidence of associationLead single-nucleotide polymorphismsTrait lociGenetic variantsEuropean ancestry populationsEvidence of associationGenome-wide association studiesAnalysis of single-nucleotide polymorphismsCase-control studyPancreatic cancerGenome-wide analysisAncestry populations
2023
Genetic Susceptibility to Nonalcoholic Fatty Liver Disease and Risk for Pancreatic Cancer: Mendelian Randomization.
King S, Veliginti S, Brouwers M, Ren Z, Zheng W, Setiawan V, Wilkens L, Shu X, Arslan A, Beane Freeman L, Bracci P, Canzian F, Du M, Gallinger S, Giles G, Goodman P, Haiman C, Kogevinas M, Kooperberg C, LeMarchand L, Neale R, Visvanathan K, White E, Albanes D, Andreotti G, Babic A, Berndt S, Brais L, Brennan P, Buring J, Rabe K, Bamlet W, Chanock S, Fuchs C, Gaziano J, Giovannucci E, Hackert T, Hassan M, Katzke V, Kurtz R, Lee I, Malats N, Murphy N, Oberg A, Orlow I, Porta M, Real F, Rothman N, Sesso H, Silverman D, Thompson I, Wactawski-Wende J, Wang X, Wentzensen N, Yu H, Zeleniuch-Jacquotte A, Yu K, Wolpin B, Duell E, Li D, Hung R, Perdomo S, McCullough M, Freedman N, Patel A, Peters U, Riboli E, Sund M, Tjønneland A, Zhong J, Van Den Eeden S, Kraft P, Risch H, Amundadottir L, Klein A, Stolzenberg-Solomon R, Antwi S. Genetic Susceptibility to Nonalcoholic Fatty Liver Disease and Risk for Pancreatic Cancer: Mendelian Randomization. Cancer Epidemiology Biomarkers & Prevention 2023, 32: 1265-1269. PMID: 37351909, PMCID: PMC10529823, DOI: 10.1158/1055-9965.epi-23-0453.Peer-Reviewed Original ResearchConceptsNonalcoholic fatty liver diseasePancreatic cancer riskFatty liver diseasePancreatic cancerCancer riskLiver diseaseGenetic predispositionMendelian randomizationPancreatic Cancer Case-Control ConsortiumConfidence intervalsPancreatic Cancer Cohort ConsortiumPC risk factorsMR methodsRisk factorsGenome-wide association studiesGenetic susceptibilityLogistic regressionCancerMetabolic perturbationsMetabolic conditionsRiskDiseaseGenetic variantsAssociationPredisposition
2020
Genome-Wide Gene–Diabetes and Gene–Obesity Interaction Scan in 8,255 Cases and 11,900 Controls from PanScan and PanC4 Consortia
Tang H, Jiang L, Stolzenberg-Solomon RZ, Arslan AA, Beane Freeman LE, Bracci PM, Brennan P, Canzian F, Du M, Gallinger S, Giles GG, Goodman PJ, Kooperberg C, Le Marchand L, Neale RE, Shu XO, Visvanathan K, White E, Zheng W, Albanes D, Andreotti G, Babic A, Bamlet WR, Berndt SI, Blackford A, Bueno-de-Mesquita B, Buring JE, Campa D, Chanock SJ, Childs E, Duell EJ, Fuchs C, Gaziano JM, Goggins M, Hartge P, Hassam MH, Holly EA, Hoover RN, Hung RJ, Kurtz RC, Lee IM, Malats N, Milne RL, Ng K, Oberg AL, Orlow I, Peters U, Porta M, Rabe KG, Rothman N, Scelo G, Sesso HD, Silverman DT, Thompson IM, Tjønneland A, Trichopoulou A, Wactawski-Wende J, Wentzensen N, Wilkens LR, Yu H, Zeleniuch-Jacquotte A, Amundadottir LT, Jacobs EJ, Petersen GM, Wolpin BM, Risch HA, Chatterjee N, Klein AP, Li D, Kraft P, Wei P. Genome-Wide Gene–Diabetes and Gene–Obesity Interaction Scan in 8,255 Cases and 11,900 Controls from PanScan and PanC4 Consortia. Cancer Epidemiology Biomarkers & Prevention 2020, 29: 1784-1791. PMID: 32546605, PMCID: PMC7483330, DOI: 10.1158/1055-9965.epi-20-0275.Peer-Reviewed Original ResearchConceptsSNP levelGenome-wide association study datasetGenome-wide levelGene-based analysisGWAS summary statisticsJoint effect testsGxE analysisGWAS top hitsPopulation substructureSignificant GxE interactionGene levelGene-environment interaction analysisAdditional genetic factorsTop hitsEnvironmental variablesGenetic variantsDiabetes/obesityGxE interactionsPancreatic cancerStudy sitesGenetic factorsMajor modifiable risk factorHit regionsModifiable risk factorsInteraction analysis
2018
Interactions 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 measurements
2017
Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study
Haycock P, Burgess S, Nounu A, Zheng J, Okoli G, Bowden J, Wade K, Timpson N, Evans D, Willeit P, Aviv A, Gaunt T, Hemani G, Mangino M, Ellis H, Kurian K, Pooley K, Eeles R, Lee J, Fang S, Chen W, Law M, Bowdler L, Iles M, Yang Q, Worrall B, Markus H, Hung R, Amos C, Spurdle A, Thompson D, O’Mara T, Wolpin B, Amundadottir L, Stolzenberg-Solomon R, Trichopoulou A, Onland-Moret N, Lund E, Duell E, Canzian F, Severi G, Overvad K, Gunter M, Tumino R, Svenson U, van Rij A, Baas A, Bown M, Samani N, van t’Hof F, Tromp G, Jones G, Kuivaniemi H, Elmore J, Johansson M, Mckay J, Scelo G, Carreras-Torres R, Gaborieau V, Brennan P, Bracci P, Neale R, Olson S, Gallinger S, Li D, Petersen G, Risch H, Klein A, Han J, Abnet C, Freedman N, Taylor P, Maris J, Aben K, Kiemeney L, Vermeulen S, Wiencke J, Walsh K, Wrensch M, Rice T, Turnbull C, Litchfield K, Paternoster L, Standl M, Abecasis G, SanGiovanni J, Li Y, Mijatovic V, Sapkota Y, Low S, Zondervan K, Montgomery G, Nyholt D, van Heel D, Hunt K, Arking D, Ashar F, Sotoodehnia N, Woo D, Rosand J, Comeau M, Brown W, Silverman E, Hokanson J, Cho M, Hui J, Ferreira M, Thompson P, Morrison A, Felix J, Smith N, Christiano A, Petukhova L, Betz R, Fan X, Zhang X, Zhu C, Langefeld C, Thompson S, Wang F, Lin X, Schwartz D, Fingerlin T, Rotter J, Cotch M, Jensen R, Munz M, Dommisch H, Schaefer A, Han F, Ollila H, Hillary R, Albagha O, Ralston S, Zeng C, Zheng W, Shu X, Reis A, Uebe S, Hüffmeier U, Kawamura Y, Otowa T, Sasaki T, Hibberd M, Davila S, Xie G, Siminovitch K, Bei J, Zeng Y, Försti A, Chen B, Landi S, Franke A, Fischer A, Ellinghaus D, Flores C, Noth I, Ma S, Foo J, Liu J, Kim J, Cox D, Delattre O, Mirabeau O, Skibola C, Tang C, Garcia-Barcelo M, Chang K, Su W, Chang Y, Martin N, Gordon S, Wade T, Lee C, Kubo M, Cha P, Nakamura Y, Levy D, Kimura M, Hwang S, Hunt S, Spector T, Soranzo N, Manichaikul A, Barr R, Kahali B, Speliotes E, Yerges-Armstrong L, Cheng C, Jonas J, Wong T, Fogh I, Lin K, Powell J, Rice K, Relton C, Martin R, Smith G. Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study. JAMA Oncology 2017, 3: 636-651. PMID: 28241208, PMCID: PMC5638008, DOI: 10.1001/jamaoncol.2016.5945.Peer-Reviewed Original ResearchConceptsGermline genetic variationGenomewide association studiesGenetic variationSingle nucleotide polymorphismsTelomere lengthStem cell divisionSummary association statisticsGermline genetic variantsCell divisionAssociation studiesLonger telomeresGenetic variantsNucleotide polymorphismsAssociation statisticsTelomeresSummary dataLung adenocarcinomaKidney cancerNon-neoplastic diseasesPolymorphismVariationTissue sitesCancerOvarian cancerDivision
2016
Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations
Fehringer G, Kraft P, Pharoah PD, Eeles RA, Chatterjee N, Schumacher FR, Schildkraut JM, Lindström S, Brennan P, Bickeböller H, Houlston RS, Landi MT, Caporaso N, Risch A, Amin Al Olama A, Berndt SI, Giovannucci EL, Grönberg H, Kote-Jarai Z, Ma J, Muir K, Stampfer MJ, Stevens VL, Wiklund F, Willett WC, Goode EL, Permuth JB, Risch HA, Reid BM, Bezieau S, Brenner H, Chan AT, Chang-Claude J, Hudson TJ, Kocarnik JK, Newcomb PA, Schoen RE, Slattery ML, White E, Adank MA, Ahsan H, Aittomäki K, Baglietto L, Blomquist C, Canzian F, Czene K, Dos-Santos-Silva I, Eliassen AH, Figueroa JD, Flesch-Janys D, Fletcher O, Garcia-Closas M, Gaudet MM, Johnson N, Hall P, Hazra A, Hein R, Hofman A, Hopper JL, Irwanto A, Johansson M, Kaaks R, Kibriya MG, Lichtner P, Liu J, Lund E, Makalic E, Meindl A, Müller-Myhsok B, Muranen TA, Nevanlinna H, Peeters PH, Peto J, Prentice RL, Rahman N, Sanchez MJ, Schmidt DF, Schmutzler RK, Southey MC, Tamimi R, Travis RC, Turnbull C, Uitterlinden AG, Wang Z, Whittemore AS, Yang XR, Zheng W, Buchanan DD, Casey G, Conti DV, Edlund CK, Gallinger S, Haile RW, Jenkins M, Le Marchand L, Li L, Lindor NM, Schmit SL, Thibodeau SN, Woods MO, Rafnar T, Gudmundsson J, Stacey SN, Stefansson K, Sulem P, Chen YA, Tyrer JP, Christiani DC, Wei Y, Shen H, Hu Z, Shu XO, Shiraishi K, Takahashi A, Bossé Y, Obeidat M, Nickle D, Timens W, Freedman ML, Li Q, Seminara D, Chanock SJ, Gong J, Peters U, Gruber SB, Amos CI, Sellers TA, Easton DF, Hunter DJ, Haiman CA, Henderson BE, Hung RJ. Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. Cancer Research 2016, 76: 5103-5114. PMID: 27197191, PMCID: PMC5010493, DOI: 10.1158/0008-5472.can-15-2980.Peer-Reviewed Original ResearchConceptsProstate cancerLung squamous cell carcinomaSquamous cell carcinomaSerous ovarian cancerCell carcinomaColorectal cancerOvarian cancerLung adenocarcinomaMultiple cancersLarger studyCancerCancer developmentCDKN2B-AS1LungIndependent association studiesCommon pathwayAssociation studiesCancer lociBRCA2 locusBreastGenetic variantsAssociationPleiotropic associationsCommon mechanismCancer-associated lociConstrained Score Statistics Identify Genetic Variants Interacting with Multiple Risk Factors in Barrett’s Esophagus
Dai JY, de Dieu Tapsoba J, Buas MF, Consortium T, Chow W, Shaheen N, Anderson L, Corley D, Gammon M, Hardie L, Lagergren J, Whiteman D, Risch H, Vaughan T. Constrained Score Statistics Identify Genetic Variants Interacting with Multiple Risk Factors in Barrett’s Esophagus. American Journal Of Human Genetics 2016, 99: 352-365. PMID: 27486777, PMCID: PMC4974090, DOI: 10.1016/j.ajhg.2016.06.018.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAge FactorsBarrett EsophagusEsophageal NeoplasmsFemaleGastroesophageal RefluxGene-Environment InteractionGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyHumansMaleModels, GeneticObesityOdds RatioPolymorphism, Single NucleotideReproducibility of ResultsRisk FactorsSample SizeSex FactorsSmokingConceptsBarrett's esophagusEsophageal adenocarcinomaGene-environment interactionsMultiple risk factorsEsophageal Adenocarcinoma ConsortiumEnvironmental exposure dataGenetic variantsGastresophageal refluxTobacco smokingRisk factorsCancer epidemiologyEsophagusExposure dataAdenocarcinomaMultivariate gene-environment interactionsLow statistical powerTesting strategiesGenome-wide significanceSmokingObesityStatistical powerEpidemiologyRefluxAssociation of Common Susceptibility Variants of Pancreatic Cancer in Higher-Risk Patients: A PACGENE Study
Childs EJ, Chaffee KG, Gallinger S, Syngal S, Schwartz AG, Cote ML, Bondy ML, Hruban RH, Chanock SJ, Hoover RN, Fuchs CS, Rider DN, Amundadottir LT, Stolzenberg-Solomon R, Wolpin BM, Risch HA, Goggins MG, Petersen GM, Klein AP. Association of Common Susceptibility Variants of Pancreatic Cancer in Higher-Risk Patients: A PACGENE Study. Cancer Epidemiology Biomarkers & Prevention 2016, 25: 1185-1191. PMID: 27197284, PMCID: PMC5321211, DOI: 10.1158/1055-9965.epi-15-1217.Peer-Reviewed Original ResearchConceptsHigh-risk populationPancreatic cancerEarly onset pancreatic cancerPancreatic cancer familiesHigh-risk patientsMagnitude of associationHigh-penetrance genesGenetic variantsPancreatic cancer susceptibilityUnselected patientsFamily historyProstate cancerColon cancerCommon genetic variantsCancerCancer familiesLogistic regressionCancer susceptibilityCancer susceptibility lociPatientsCancer lociOvarianCommon variantsBreastRisk
2015
Polymorphisms in genes in the androgen pathway and risk of Barrett's esophagus and esophageal adenocarcinoma
Ek WE, Lagergren K, Cook M, Wu AH, Abnet CC, Levine D, Chow W, Bernstein L, Risch HA, Shaheen NJ, Bird NC, Corley DA, Hardie LJ, Fitzgerald RC, Gammon MD, Romero Y, Liu G, Ye W, Vaughan TL, MacGregor S, Whiteman DC, Westberg L, Lagergren J. Polymorphisms in genes in the androgen pathway and risk of Barrett's esophagus and esophageal adenocarcinoma. International Journal Of Cancer 2015, 138: 1146-1152. PMID: 26414697, PMCID: PMC4715576, DOI: 10.1002/ijc.29863.Peer-Reviewed Original ResearchConceptsRisk of BEBarrett's esophagusEsophageal adenocarcinomaSingle nucleotide polymorphismsAndrogen pathwayRisk of EACStrong male predominanceBody mass indexMale predominanceTobacco smokingTobacco smokersBE patientsHip ratioEAC patientsSex hormonesReflux statusLarger sample sizeEsophagusInfluence riskGenetic epidemiological analysisPatientsControl participantsAdenocarcinomaRiskGenetic variantsCommon variants at the CHEK2 gene locus and risk of epithelial ovarian cancer
Lawrenson K, Iversen ES, Tyrer J, Weber RP, Concannon P, Hazelett DJ, Li Q, Marks JR, Berchuck A, Lee JM, Aben KK, Anton-Culver H, Antonenkova N, Bandera E, Bean Y, Beckmann M, Bisogna M, Bjorge L, Bogdanova N, Brinton L, Brooks-Wilson A, Bruinsma F, Butzow R, Campbell I, Carty K, Chang-Claude J, Chenevix-Trench G, Chen A, Chen Z, Cook L, Cramer D, Cunningham J, Cybulski C, Plisiecka-Halasa J, Dennis J, Dicks E, Doherty J, Dörk T, du Bois A, Eccles D, Easton D, Edwards R, Eilber U, Ekici A, Fasching P, Fridley B, Gao Y, Gentry-Maharaj A, Giles G, Glasspool R, Goode E, Goodman M, Gronwald J, Harter P, Hasmad H, Hein A, Heitz F, Hildebrandt M, Hillemanns P, Hogdall E, Hogdall C, Hosono S, Jakubowska A, Paul J, Jensen A, Karlan B, Kjaer S, Kelemen L, Kellar M, Kelley J, Kiemeney L, Krakstad C, Lambrechts D, Lambrechts S, Le N, Lee A, Cannioto R, Leminen A, Lester J, Levine D, Liang D, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger L, Matsuo K, McGuire V, McLaughlin J, Nevanlinna H, McNeish I, Menon U, Modugno F, Moysich K, Narod S, Nedergaard L, Ness R, Azmi M, Odunsi K, Olson S, Orlow I, Orsulic S, Pearce C, Pejovic T, Pelttari L, Permuth-Wey J, Phelan C, Pike M, Poole E, Ramus S, Risch H, Rosen B, Rossing M, Rothstein J, Rudolph A, Runnebaum I, Rzepecka I, Salvesen H, Budzilowska A, Sellers T, Shu X, Shvetsov Y, Siddiqui N, Sieh W, Song H, Southey M, Sucheston L, Tangen I, Teo S, Terry K, Thompson P, Timorek A, Tworoger S, Van Nieuwenhuysen E, Vergote I, Vierkant R, Wang-Gohrke S, Walsh C, Wentzensen N, Whittemore A, Wicklund K, Wilkens L, Woo Y, Wu X, Wu A, Yang H, Zheng W, Ziogas A, Coetzee G, Freedman M, Monteiro A, Moes-Sosnowska J, Kupryjanczyk J, Pharoah P, Gayther S, Schildkraut J. Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer. Carcinogenesis 2015, 36: 1341-1353. PMID: 26424751, PMCID: PMC4635670, DOI: 10.1093/carcin/bgv138.Peer-Reviewed Original ResearchConceptsGene locusCommon variantsGenome-wide association studiesAdditional risk variantsDNA repair genesCommon genetic variantsImputation of genotypesCancer Genome Atlas (TCGA) datasetFunctional annotationGenomic regionsTranscription factorsRegulatory elementsNormal fallopian tube tissuesGenome ProjectCausal variantsPrecursor tissueGene expressionSerous epithelial ovarian cancerCandidate SNPsAssociation studiesAdditional genotypingRepair genesSusceptibility genesRisk variantsGenetic variantsPolymorphisms in Genes of Relevance for Oestrogen and Oxytocin Pathways and Risk of Barrett’s Oesophagus and Oesophageal Adenocarcinoma: A Pooled Analysis from the BEACON Consortium
Lagergren K, Ek WE, Levine D, Chow WH, Bernstein L, Casson AG, Risch HA, Shaheen NJ, Bird NC, Reid BJ, Corley DA, Hardie LJ, Wu AH, Fitzgerald RC, Pharoah P, Caldas C, Romero Y, Vaughan TL, MacGregor S, Whiteman D, Westberg L, Nyren O, Lagergren J. Polymorphisms in Genes of Relevance for Oestrogen and Oxytocin Pathways and Risk of Barrett’s Oesophagus and Oesophageal Adenocarcinoma: A Pooled Analysis from the BEACON Consortium. PLOS ONE 2015, 10: e0138738. PMID: 26406593, PMCID: PMC4583498, DOI: 10.1371/journal.pone.0138738.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaADP-ribosyl Cyclase 1AromataseBarrett EsophagusEsophageal NeoplasmsEstrogen Receptor alphaEstrogen Receptor betaFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHumansMaleMembrane GlycoproteinsOxytocinPolymorphism, Single NucleotideReceptors, OxytocinSex FactorsConceptsKey genesGenetic variantsGenes of relevanceGene-based approachesAssociation studiesGenesOxytocin pathwaysGenetic epidemiological studiesEstrogen receptor alphaRisk of OACRisk of BEPathwayReceptor alphaOesophageal adenocarcinomaBarrett's esophagusNorth AmericaReplicationPolymorphismEstrogen pathwayVariantsStrong male predominanceOAC patientsMalesBO patientsMale predominanceShared genetics underlying epidemiological association between endometriosis and ovarian cancer
Lu Y, Cuellar-Partida G, Painter JN, Nyholt DR, Study A, Consortium T, Morris A, Fasching P, Hein A, Burghaus S, Beckmann M, Lambrechts D, Van Nieuwenhuysen E, Vergote I, Vanderstichele A, Doherty J, Rossing M, Wicklund K, Chang-Claude J, Eilber U, Rudolph A, Wang-Gohrke S, Goodman M, Bogdanova N, Dörk T, Dürst M, Hillemanns P, Runnebaum I, Antonenkova N, Butzow R, Leminen A, Nevanlinna H, Pelttari L, Edwards R, Kelley J, Modugno F, Moysich K, Ness R, Cannioto R, Høgdall E, Jensen A, Giles G, Bruinsma F, Kjaer S, Hildebrandt M, Liang D, Lu K, Wu X, Bisogna M, Dao F, Levine D, Cramer D, Terry K, Tworoger S, Missmer S, Bjorge L, Salvesen H, Kopperud R, Bischof K, Aben K, Kiemeney L, Massuger L, Brooks-Wilson A, Olson S, McGuire V, Rothstein J, Sieh W, Whittemore A, Cook L, Le N, Gilks C, Gronwald J, Jakubowska A, Lubiński J, Gawełko J, Song H, Tyrer J, Wentzensen N, Brinton L, Trabert B, Lissowska J, Mclaughlin J, Narod S, Phelan C, Anton-Culver H, Ziogas A, Eccles D, Gayther S, Gentry-Maharaj A, Menon U, Ramus S, Wu A, Dansonka-Mieszkowska A, Kupryjanczyk J, Timorek A, Szafron L, Cunningham J, Fridley B, Winham S, Bandera E, Poole E, Morgan T, Risch H, Goode E, Schildkraut J, Webb P, Pearce C, Berchuck A, Pharoah P, Montgomery G, Zondervan K, Chenevix-Trench G, MacGregor S, Consortium T, Anderson C, Gordon S, Guo Q, Henders A, Lambert A, Lee S, Kraft P, Kennedy S, Macgregor S, Martin N, Missmer S, Montgomery G, Morris A, Nyholt D, Painter J, Roseman F, Treloar S, Visscher P, Wallace L, Zondervan K. Shared genetics underlying epidemiological association between endometriosis and ovarian cancer. Human Molecular Genetics 2015, 24: 5955-5964. PMID: 26231222, PMCID: PMC4581608, DOI: 10.1093/hmg/ddv306.Peer-Reviewed Original ResearchConceptsOvarian cancerEpidemiological associationGenetic correlationsSerous carcinomaFull genome coverageStrong genetic correlationLow-grade serous carcinomaHigh-grade serous carcinomaGenetic susceptibility lociClear cell carcinomaPolygenic architectureWeak genetic correlationsOvarian cancer datasetSusceptibility lociOvarian cancer susceptibilityPolygenic effectsCertain histotypesMucinous typeCell carcinomaEndometrioid carcinomaGenetic variantsFallopian tubeOvarian adenocarcinomaClear cellsEndometriosisMiRNA-Related SNPs and Risk of Esophageal Adenocarcinoma and Barrett’s Esophagus: Post Genome-Wide Association Analysis in the BEACON Consortium
Buas MF, Onstad L, Levine DM, Risch HA, Chow WH, Liu G, Fitzgerald RC, Bernstein L, Ye W, Bird NC, Romero Y, Casson AG, Corley DA, Shaheen NJ, Wu AH, Gammon MD, Reid BJ, Hardie LJ, Peters U, Whiteman DC, Vaughan TL. MiRNA-Related SNPs and Risk of Esophageal Adenocarcinoma and Barrett’s Esophagus: Post Genome-Wide Association Analysis in the BEACON Consortium. PLOS ONE 2015, 10: e0128617. PMID: 26039359, PMCID: PMC4454432, DOI: 10.1371/journal.pone.0128617.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAgedBarrett EsophagusCase-Control StudiesEsophageal NeoplasmsEsophagusFemaleGastroesophageal RefluxGene Expression RegulationGenetic LociGenome-Wide Association StudyHumansMaleMicroRNAsMiddle AgedObesityPolymorphism, Single NucleotideRisk FactorsSex FactorsSmokingWhite PeopleConceptsGenome-wide association studiesSingle nucleotide polymorphismsPost-transcriptional gene regulationGenome-wide association analysisMiRNA-related single nucleotide polymorphismsMiRNA gene lociSmall non-coding RNAsClasses of genesMiRNA-targeted mRNAsMiRNA biogenesis genesGenetic variantsNon-coding RNAsCommon genetic variantsGermline genetic variantsMiRNA genesBiogenesis genesGene regulationCore pathwaysGene locusAssociation studiesAssociation analysisGenesNucleotide polymorphismsNominal associationEuropean ancestry
2014
Exome-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
2011
MicroRNA Processing and Binding Site Polymorphisms Are Not Replicated in the Ovarian Cancer Association Consortium
Permuth-Wey J, Chen Z, Tsai YY, Lin HY, Chen YA, Barnholtz-Sloan J, Birrer MJ, Chanock SJ, Cramer DW, Cunningham JM, Fenstermacher D, Fridley BL, Garcia-Closas M, Gayther SA, Gentry-Maharaj A, Gonzalez-Bosquet J, Iversen E, Jim H, McLaughlin J, Menon U, Narod SA, Phelan CM, Ramus SJ, Risch H, Song H, Sutphen R, Terry KL, Tyrer J, Vierkant RA, Wentzensen N, Lancaster JM, Cheng JQ, Berchuck A, Pharoah PD, Schildkraut JM, Goode EL, Sellers TA. MicroRNA Processing and Binding Site Polymorphisms Are Not Replicated in the Ovarian Cancer Association Consortium. Cancer Epidemiology Biomarkers & Prevention 2011, 20: 1793-1797. PMID: 21636674, PMCID: PMC3153581, DOI: 10.1158/1055-9965.epi-11-0397.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsGenotype dataMiRNA biogenesis genesBiogenesis genesInvasive EOC casesMicroRNA processingPutative miRNASNP dataPopulation admixtureSite polymorphismOvarian Cancer Association ConsortiumGenesGenetic variantsNucleotide polymorphismsEOC riskPopulation stratificationCommon variantsEuropean ancestryPolymorphismEarly associationEOC casesMicroRNAsKbMiRNAVariants