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 populationsHypertension and risk of endometrial cancer: a pooled analysis in the Epidemiology of Endometrial Cancer Consortium (E2C2)
Habeshian T, Peeri N, De Vivo I, Schouten L, Shu X, Cote M, Bertrand K, Chen Y, Clarke M, Clendenen T, Cook L, Costas L, Dal Maso L, Freudenheim J, Friedenreich C, Gallagher G, Gierach G, Goodman M, Jordan S, La Vecchia C, Lacey J, Levi F, Liao L, Lipworth L, Lu L, Matias-Guiu X, Moysich K, Mutter G, Na R, Naduparambil J, Negri E, O'Connell K, O'Mara T, Hernández I, Palmer J, Parazzini F, Patel A, Penney K, Prizment A, Ricceri F, Risch H, Sacerdote C, Sandin S, Stolzenberg-Solomon R, van den Brandt P, Webb P, Wentzensen N, Wijayabahu A, Wilkens L, Xu W, Yu H, Zeleniuch-Jacquotte A, Zheng W, Du M, Setiawan V. Hypertension and risk of endometrial cancer: a pooled analysis in the Epidemiology of Endometrial Cancer Consortium (E2C2). Cancer Epidemiology Biomarkers & Prevention 2024, 33: 788-795. PMID: 38530242, PMCID: PMC11145161, DOI: 10.1158/1055-9965.epi-23-1444.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedCase-Control StudiesEndometrial NeoplasmsFemaleHumansHypertensionIncidenceMiddle AgedRisk FactorsConceptsEpidemiology of Endometrial Cancer ConsortiumRisk of endometrial cancerComponents of metabolic syndromeCancer ConsortiumRisk factorsAssociated with endometrial cancer riskIncidence rates of endometrial cancerMultivariable unconditional logistic regression modelStronger magnitude of associationEtiology of endometrial cancerStudy designUnconditional logistic regression modelsIncreased risk of endometrial cancerEndometrial cancer riskRates of endometrial cancerUsers of postmenopausal hormone therapyConfidence intervalsRising prevalence of obesityPrevalence of obesityEndometrial cancerMagnitude of associationEndometrial cancer casesMetabolic syndromeBody mass indexLogistic regression models
2023
Night shift work, sleep duration and endometrial cancer risk: A pooled analysis from the Epidemiology of Endometrial Cancer Consortium (E2C2)
Frias-Gomez J, Alemany L, Benavente Y, Clarke M, de Francisco J, De Vivo I, Du M, Goodman M, Lacey J, Liao L, Lipworth L, Lu L, Merritt M, Michels K, O'Connell K, Paytubi S, Pelegrina B, Peremiquel-Trillas P, Petruzella S, Ponce J, Risch H, Setiawan V, Schouten L, Shu X, Trabert B, Van den Brandt P, Wentzensen N, Wilkens L, Yu H, Costas L. Night shift work, sleep duration and endometrial cancer risk: A pooled analysis from the Epidemiology of Endometrial Cancer Consortium (E2C2). Sleep Medicine Reviews 2023, 72: 101848. PMID: 37716022, PMCID: PMC10840870, DOI: 10.1016/j.smrv.2023.101848.Peer-Reviewed Original ResearchMeSH KeywordsEndometrial NeoplasmsFemaleHumansRisk FactorsShift Work ScheduleSleepSleep DurationWork Schedule ToleranceConceptsNight shift workEndometrial Cancer ConsortiumEndometrial cancer riskEndometrial cancerSleep durationShift workPostmenopausal womenPooled analysisInverse associationOdds ratioCancer riskCancer ConsortiumNon-significant inverse associationStudy-specific odds ratiosEndometrial cancer casesStrong risk factorConfidence intervalsLong sleep durationDaily sleep durationObese womenRisk factorsCancer casesLogistic regressionIndividual dataCancerFolate Intake and Ovarian Cancer Risk among Women with Endometriosis: A Case–Control Study from the Ovarian Cancer Association Consortium
Gersekowski K, Ibiebele T, Group F, Doherty J, Harris H, Goodman M, Terry K, Wu A, Bandera E, Qin B, Ong J, Tyrer J, Dixon-Suen S, Modugno F, Risch H, Webb P. Folate Intake and Ovarian Cancer Risk among Women with Endometriosis: A Case–Control Study from the Ovarian Cancer Association Consortium. Cancer Epidemiology Biomarkers & Prevention 2023, 32: of1-of10. PMID: 37220873, PMCID: PMC10390886, DOI: 10.1158/1055-9965.epi-23-0121.Peer-Reviewed Original ResearchConceptsOvarian cancer riskHigh dietary folate intakeDietary folate intakeCase-control studyFolate intakeOvarian cancerOvarian Cancer Association ConsortiumCancer riskOdds ratioMendelian randomizationSelf-reported endometriosisSupplemental folate intakeHigh folate intakeHigh folate dietCancer-promoting effectsPooled analysisFolate dietPrecancerous lesionsFolate statusEndometriosisIncrease riskCancerCancer typesLogistic regressionIntakeGenome-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 cancersHeritabilityRisk prediction models for endometrial cancer: development and validation in an international consortium
Shi J, Kraft P, Rosner B, Benavente Y, Black A, Brinton L, Chen C, Clarke M, Cook L, Costas L, Dal Maso L, Freudenheim J, Frias-Gomez J, Friedenreich C, Garcia-Closas M, Goodman M, Johnson L, La Vecchia C, Levi F, Lissowska J, Lu L, McCann S, Moysich K, Negri E, O'Connell K, Parazzini F, Petruzella S, Polesel J, Ponte J, Rebbeck T, Reynolds P, Ricceri F, Risch H, Sacerdote C, Setiawan V, Shu X, Spurdle A, Trabert B, Webb P, Wentzensen N, Wilkens L, Xu W, Yang H, Yu H, Du M, De Vivo I. Risk prediction models for endometrial cancer: development and validation in an international consortium. Journal Of The National Cancer Institute 2023, 115: 552-559. PMID: 36688725, PMCID: PMC10165481, DOI: 10.1093/jnci/djad014.Peer-Reviewed Original ResearchConceptsNurses' Health StudyRisk prediction modelNHS IIEndometrial cancerHealth StudyGenetic factorsEndometrial cancer incidence ratesOvarian Cancer Screening TrialCancer risk prediction modelsEndometrial Cancer ConsortiumPostmenopausal white womenCancer Screening TrialCancer risk stratificationCase-control studyRisk factor distributionCancer incidence ratesRelative risk estimatesEpidemiologic modelHeterogeneous study populationsPublic health practiceProphylactic hysterectomyRisk stratificationEpidemiologic factorsIncidence rateSelect cohortLifetime ovulatory years and risk of epithelial ovarian cancer: a multinational pooled analysis
Fu Z, Brooks M, Irvin S, Jordan S, Aben K, Anton-Culver H, Bandera E, Beckmann M, Berchuck A, Brooks-Wilson A, Chang-Claude J, Cook L, Cramer D, Cushing-Haugen K, Doherty J, Ekici A, Fasching P, Fortner R, Gayther S, Gentry-Maharaj A, Giles G, Goode E, Goodman M, Group A, Harris H, Hein A, Kaaks R, Kiemeney L, Köbel M, Kotsopoulos J, Kotsopoulos J, Le N, Lee A, Matsuo K, McGuire V, McLaughlin J, Menon U, Milne R, Moysich K, Pearce C, Pike M, Qin B, Ramus S, Riggan M, Rothstein J, Schildkraut J, Sieh W, Sutphen R, Terry K, Thompson P, Titus L, van Altena A, White E, Whittemore A, Wu A, Zheng W, Ziogas A, Taylor S, Tang L, Songer T, Wentzensen N, Webb P, Risch H, Modugno F. Lifetime ovulatory years and risk of epithelial ovarian cancer: a multinational pooled analysis. Journal Of The National Cancer Institute 2023, 115: 539-551. PMID: 36688720, PMCID: PMC10165492, DOI: 10.1093/jnci/djad011.Peer-Reviewed Original ResearchConceptsEpithelial ovarian cancerOral contraceptive useClear cell histotypeOvulatory yearsOvulation suppressionOdds ratioOvarian cancerContraceptive useNonmucinous epithelial ovarian cancerConfidence intervalsConsistent protective effectCase patientsMucinous tumorsPooled analysisProtective effectEOC riskControl participantsHistotypeCancerOvulationAssociationRegression modelsRiskYearsBeta coefficients
2022
Dietary omega-3 fatty acids and endometrial cancer risk in the Epidemiology of Endometrial Cancer Consortium: An individual-participant meta-analysis
Brasky T, Hade E, Cohn D, Newton A, Petruzella S, O'Connell K, Bertrand K, Cook L, De Vivo I, Du M, Freudenheim J, Friedenreich C, Goodman M, Gorzelitz J, Ibiebele T, Krogh V, Liao L, Lipworth L, Lu L, McCann S, O'Mara T, Palmer J, Ponte J, Prizment A, Risch H, Sandin S, Schouten L, Setiawan V, Shu X, Trabert B, van den Brandt P, Webb P, Wentzensen N, Wilkens L, Wolk A, Yu H, Neuhouser M. Dietary omega-3 fatty acids and endometrial cancer risk in the Epidemiology of Endometrial Cancer Consortium: An individual-participant meta-analysis. Gynecologic Oncology 2022, 169: 137-146. PMID: 36934308, PMCID: PMC10025515, DOI: 10.1016/j.ygyno.2022.10.015.Peer-Reviewed Original ResearchConceptsEndometrial cancer riskEndometrial Cancer ConsortiumHigh dietary intakeCancer riskDietary intakeObese womenOdds ratioCancer ConsortiumDietary omega-3 fatty acidsOmega-3 fatty acidsEnergy-adjusted quartilesEndometrial cancer casesEndometrial cancer incidenceProspective cohort studyFood frequency questionnaireNormal-weight womenFatty acid intakeAdjusted odds ratioBody mass indexLong-chain omega-3Anti-inflammatory propertiesSubgroup of womenConfidence intervalsCase-control studyTwo-stage individual participant dataThe age-dependent association of risk factors with pancreatic cancer
Yuan C, Kim J, Wang QL, Lee AA, Babic A, Consortium P, Amundadottir LT, Ardanaz E, Arslan A, Beane-Freeman L, Bracci P, Bueno-de-Mesquita B, Du M, Gallinger S, Giles G, Goodman P, Katzke V, Klein A, Kooperberg C, Kraft P, Li D, Malats N, Marchand L, McCullough M, Milne R, Neoptolemos J, Perdomo S, Petersen G, Risch H, Shu X, Stolzenberg-Solomon R, Van Den Eeden S, Visvanathan K, White E, Wolpin B, Zheng W, Amundadottir L, Klein A, Li D, McCullough M, Petersen G, Risch H, Stolzenberg-Solomon R, Perez K, Ng K, Giovannucci E, Stampfer M, Kraft P, Wolpin B. The age-dependent association of risk factors with pancreatic cancer. Annals Of Oncology 2022, 33: 693-701. PMID: 35398288, PMCID: PMC9233063, DOI: 10.1016/j.annonc.2022.03.276.Peer-Reviewed Original ResearchMeSH KeywordsGenome-Wide Association StudyHumansMalePancreatic NeoplasmsProspective StudiesRisk FactorsConceptsPancreatic cancer casesRisk factorsPancreatic cancerProspective cohortMale sexBlack raceSEER programCancer casesPolygenic risk scoresRisk scoreProspective US cohort studyNon-modifiable risk factorsNon-O blood groupIncident pancreatic cancerUS cohort studyEnd Results ProgramPancreatic cancer riskAge-specific associationsEarly detection strategiesAge-dependent associationGenome-wide association studiesAdvanced diseaseCancer presentsCohort studyUS SurveillancePolygenic 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
The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
Lakeman IMM, van den Broek AJ, Vos JAM, Barnes DR, Adlard J, Andrulis IL, Arason A, Arnold N, Arun BK, Balmaña J, Barrowdale D, Benitez J, Borg A, Caldés T, Caligo MA, Chung WK, Claes KBM, Collée J, Couch F, Daly M, Dennis J, Dhawan M, Domchek S, Eeles R, Engel C, Evans D, Feliubadaló L, Foretova L, Friedman E, Frost D, Ganz P, Garber J, Gayther S, Gerdes A, Godwin A, Goldgar D, Hahnen E, Hake C, Hamann U, Hogervorst F, Hooning M, Hopper J, Hulick P, Imyanitov E, Isaacs C, Izatt L, Jakubowska A, James P, Janavicius R, Jensen U, Jiao Y, John E, Joseph V, Karlan B, Kets C, Konstantopoulou I, Kwong A, Legrand C, Leslie G, Lesueur F, Loud J, Lubiński J, Manoukian S, McGuffog L, Miller A, Gomes D, Montagna M, Mouret-Fourme E, Nathanson K, Neuhausen S, Nevanlinna H, Yie J, Olah E, Olopade O, Park S, Parsons M, Peterlongo P, Piedmonte M, Radice P, Rantala J, Rennert G, Risch H, Schmutzler R, Sharma P, Simard J, Singer C, Stadler Z, Stoppa-Lyonnet D, Sutter C, Tan Y, Teixeira M, Teo S, Teulé A, Thomassen M, Thull D, Tischkowitz M, Toland A, Tung N, van Rensburg E, Vega A, Wappenschmidt B, Devilee P, van Asperen C, Bernstein J, Offit K, Easton D, Rookus M, Chenevix-Trench G, Antoniou A, Robson M, Schmidt M. The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant. Genetics In Medicine 2021, 23: 1726-1737. PMID: 34113011, PMCID: PMC8460445, DOI: 10.1038/s41436-021-01198-7.Peer-Reviewed Original ResearchConceptsCBC riskHazard ratioFirst BCC-indexPolygenic risk scoresRisk scoreConfidence intervalsContralateral breast cancer riskBreast cancer polygenic risk scoreBRCA2 pathogenic variantsAge 40 yearsBreast cancer riskMultifactorial risk modelEuropean ancestryModifiers of BRCA1/2Breast cancer risk predictionCancer risk predictionConsortium of InvestigatorsRetrospective seriesInvasive BCPathological characteristicsFamily historyEstrogen receptorHeterozygous BRCA1Cancer risk
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 ResearchMeSH KeywordsCase-Control StudiesDiabetes MellitusFemaleGenome-Wide Association StudyHumansMaleObesityRisk FactorsConceptsSNP 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 analysisPolygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
Barnes DR, Rookus MA, McGuffog L, Leslie G, Mooij TM, Dennis J, Mavaddat N, Adlard J, Ahmed M, Aittomäki K, Andrieu N, Andrulis IL, Arnold N, Arun BK, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Benitez J, Berthet P, Białkowska K, Blanco AM, Blok MJ, Bonanni B, Boonen SE, Borg Å, Bozsik A, Bradbury AR, Brennan P, Brewer C, Brunet J, Buys SS, Caldés T, Caligo MA, Campbell I, Christensen LL, Chung WK, Claes KBM, Colas C, Collonge-Rame M, Cook J, Daly M, Davidson R, de la Hoya M, de Putter R, Delnatte C, Devilee P, Diez O, Ding Y, Domchek S, Dorfling C, Dumont M, Eeles R, Ejlertsen B, Engel C, Evans D, Faivre L, Foretova L, Fostira F, Friedlander M, Friedman E, Frost D, Ganz P, Garber J, Gehrig A, Gerdes A, Gesta P, Giraud S, Glendon G, Godwin A, Goldgar D, González-Neira A, Greene M, Gschwantler-Kaulich D, Hahnen E, Hamann U, Hanson H, Hentschel J, Hogervorst F, Hooning M, Horvath J, Hu C, Hulick P, Imyanitov E, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James P, Janavicius R, John E, Joseph V, Karlan B, Kast K, Koudijs M, Kruse T, Kwong A, Laitman Y, Lasset C, Lazaro C, Lester J, Lesueur F, Liljegren A, Loud J, Lubiński J, Mai P, Manoukian S, Mari V, Mebirouk N, Meijers-Heijboer H, Meindl A, Mensenkamp A, Miller A, Montagna M, Mouret-Fourme E, Mukherjee S, Mulligan A, Nathanson K, Neuhausen S, Nevanlinna H, Niederacher D, Nielsen F, Nikitina-Zake L, Noguès C, Olah E, Olopade O, Ong K, O’Shaughnessy-Kirwan A, Osorio A, Ott C, Papi L, Park S, Parsons M, Pedersen I, Peissel B, Peixoto A, Peterlongo P, Pfeiler G, Phillips K, Prajzendanc K, Pujana M, Radice P, Ramser J, Ramus S, Rantala J, Rennert G, Risch H, Robson M, Rønlund K, Salani R, Schuster H, Senter L, Shah P, Sharma P, Side L, Singer C, Slavin T, Soucy P, Southey M, Spurdle A, Steinemann D, Steinsnyder Z, Stoppa-Lyonnet D, Sutter C, Tan Y, Teixeira M, Teo S, Thull D, Tischkowitz M, Tognazzo S, Toland A, Trainer A, Tung N, van Engelen K, van Rensburg E, Vega A, Vierstraete J, Wagner G, Walker L, Wang-Gohrke S, Wappenschmidt B, Weitzel J, Yadav S, Yang X, Yannoukakos D, Zimbalatti D, Offit K, Thomassen M, Couch F, Schmutzler R, Simard J, Easton D, Chenevix-Trench G, Antoniou A. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants. Genetics In Medicine 2020, 22: 1653-1666. PMID: 32665703, PMCID: PMC7521995, DOI: 10.1038/s41436-020-0862-x.Peer-Reviewed Original ResearchConceptsEpithelial ovarian cancerPathogenic variant carriersProspective cohortPolygenic risk scoresVariant carriersCancer riskRisk scoreStrong associationEOC riskHigh-grade serous epithelial ovarian cancerSerous epithelial ovarian cancerER-positive BCBRCA2 pathogenic variantsCarriers of BRCA1Absolute risk differenceEpithelial ovarian cancer riskGeneral population estimatesOvarian cancer riskHR estimatesBRCA2 pathogenic variant carriersBRCA1 carriersBRCA1/2 carriersOvarian cancerBC riskEstrogen receptorAssessment 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 ResearchAssociation Between Breastfeeding and Ovarian Cancer Risk
Babic A, Sasamoto N, Rosner BA, Tworoger SS, Jordan SJ, Risch HA, Harris HR, Rossing MA, Doherty JA, Fortner RT, Chang-Claude J, Goodman MT, Thompson PJ, Moysich KB, Ness RB, Kjaer SK, Jensen A, Schildkraut JM, Titus LJ, Cramer DW, Bandera EV, Qin B, Sieh W, McGuire V, Sutphen R, Pearce CL, Wu AH, Pike M, Webb PM, Modugno F, Terry KL. Association Between Breastfeeding and Ovarian Cancer Risk. JAMA Oncology 2020, 6: e200421. PMID: 32239218, PMCID: PMC7118668, DOI: 10.1001/jamaoncol.2020.0421.Peer-Reviewed Original ResearchMeSH KeywordsAgedBreast FeedingCase-Control StudiesFemaleHumansMiddle AgedOvarian NeoplasmsPregnancyRisk FactorsConceptsOvarian cancer riskInvasive ovarian cancerEpithelial ovarian cancerOvarian cancerCancer riskLower riskOdds ratioLogistic regressionHigh-grade serous subtypeHistotype-specific associationsMultivariable logistic regressionCase-control studyOvarian Cancer Association ConsortiumPolytomous logistic regressionParous womenEndometrioid cancerModifiable factorsPooled analysisSerous subtypeMAIN OUTCOMEBreastfeedingMore monthsOverall associationLethal typeCancerEstimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer
Shuch B, Li S, Risch H, Bindra RS, McGillivray PD, Gerstein M. Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer. Cancer 2020, 126: 3657-3666. PMID: 32413184, PMCID: PMC10316675, DOI: 10.1002/cncr.32914.Peer-Reviewed Original ResearchConceptsFumarate hydrataseExome Aggregation ConsortiumAllele frequenciesFH geneGenome ProjectDifferent world populationsFH alterationsHereditary leiomyomatosisKidney cancer riskCancer penetranceMissense alterationsGenesOverall allele frequencyRare variantsLow penetranceRenal cancerExACKidney cancerCancer riskPenetranceGermline mutationsLethal formWorld populationCancer syndromesAlterationsRisk factors for hepatocellular carcinoma (HCC) in the northeast of the United States: results of a case–control study
Shen Y, Risch H, Lu L, Ma X, Irwin ML, Lim JK, Taddei T, Pawlish K, Stroup A, Brown R, Wang Z, Jia W, Wong L, Mayne ST, Yu H. Risk factors for hepatocellular carcinoma (HCC) in the northeast of the United States: results of a case–control study. Cancer Causes & Control 2020, 31: 321-332. PMID: 32060838, PMCID: PMC7136513, DOI: 10.1007/s10552-020-01277-1.Peer-Reviewed Original ResearchConceptsRisk of HCCCase-control studyHepatocellular carcinomaRisk factorsHCV infectionHCC riskOdds ratioHepatitis C virus antibodyUnconditional logistic regression modelsElevated HCC riskRapid case ascertainmentC virus antibodyHeavy alcohol intakeConfidence intervalsFamily cancer historyImportant risk factorRandom digit dialingLow socioeconomic statusUnhealthy lifestyle choicesLower household incomeLogistic regression modelsNSAID useAlcohol intakeCigarette smokingHigher BMIFine-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
Association Between Levels of Sex Hormones and Risk of Esophageal Adenocarcinoma and Barrett’s Esophagus
Xie SH, Fang R, Huang M, Dai J, Thrift AP, Anderson LA, Chow WH, Bernstein L, Gammon MD, Risch HA, Shaheen NJ, Reid BJ, Wu AH, Iyer PG, Liu G, Corley DA, Whiteman DC, Caldas C, Pharoah PD, Hardie LJ, Fitzgerald RC, Shen H, Vaughan TL, Lagergren J. Association Between Levels of Sex Hormones and Risk of Esophageal Adenocarcinoma and Barrett’s Esophagus. Clinical Gastroenterology And Hepatology 2019, 18: 2701-2709.e3. PMID: 31756444, PMCID: PMC7580878, DOI: 10.1016/j.cgh.2019.11.030.Peer-Reviewed Original ResearchConceptsRisk of BERisk of EACBarrett's esophagusMendelian randomization analysisSex hormonesOdds ratioRandomization analysisSex hormone-binding globulinSpecific sex hormonesFree androgen indexFollicle-stimulating hormoneHormone-binding globulinGenetic risk scoreAndrogen indexDecreased riskEsophageal adenocarcinomaRisk scoreEsophagusAbstractTextLogistic regressionHormoneClear associationControl participantsGenetic factorsWomenSerum gamma-glutamyltransferase and the overall survival of metastatic pancreatic cancer
Xiao Y, Yang H, Lu J, Li D, Xu C, Risch HA. Serum gamma-glutamyltransferase and the overall survival of metastatic pancreatic cancer. BMC Cancer 2019, 19: 1020. PMID: 31664937, PMCID: PMC6819453, DOI: 10.1186/s12885-019-6250-8.Peer-Reviewed Original ResearchConceptsPancreatic ductal adenocarcinomaMetastatic pancreatic ductal adenocarcinomaOverall survivalSerum GGTSignificant dose-response associationCox proportional hazards modelMetastatic PDAC patientsDose-response associationMetastatic pancreatic cancerPancreatic cancer survivalSpecialized cancer hospitalBlood glucose levelsProportional hazards modelHazard ratioPrognostic roleCancer HospitalPDAC patientsCancer survivalSubgroup analysisPancreatic cancerDuctal adenocarcinomaMetastatic PCCancer occurrenceGlucose levelsMortality risk