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
Folate 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 regressionIntakeLifetime 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 ResearchMeSH KeywordsCarcinoma, Ovarian EpithelialCase-Control StudiesContraceptives, OralFemaleHumansOvarian NeoplasmsParityPregnancyRisk FactorsConceptsEpithelial 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
2021
A 584 bp deletion in CTRB2 inhibits chymotrypsin B2 activity and secretion and confers risk of pancreatic cancer
Jermusyk A, Zhong J, Connelly KE, Gordon N, Perera S, Abdolalizadeh E, Zhang T, O’Brien A, Hoskins JW, Collins I, Eiser D, Yuan C, Consortium P, Consortium P, Albanes D, Arslan A, Gurrea A, Beane-Freeman L, Bracci P, Bueno-de-Mesquita B, Buring J, Canzian F, Gallinger S, Gaziano J, Giles G, Goodman P, Johansson M, Kooperberg C, LeMarchand L, Malats N, Neale R, Panico S, Peters U, Real F, Shu X, Sund M, Thornquist M, Tjønneland A, Travis R, Van Den Eeden S, Visvanathan K, Zheng W, Kraft P, Risch H, Jacobs E, Li D, Du M, Stolzenberg-Solomon R, Klein A, Smith J, Wolpin B, Chanock S, Shi J, Petersen G, Westlake C, Amundadottir L. A 584 bp deletion in CTRB2 inhibits chymotrypsin B2 activity and secretion and confers risk of pancreatic cancer. American Journal Of Human Genetics 2021, 108: 1852-1865. PMID: 34559995, PMCID: PMC8546220, DOI: 10.1016/j.ajhg.2021.09.002.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesB2 proteinEndoplasmic reticulumDeletion allelePremature stop codonHuman genomeGWAS datasetsSuch lociRisk lociAssociation studiesStop codonER stressCTRB2Pancreatic ductal adenocarcinomaBp deletionExon 6European ancestryLociExon 7Intracellular accumulationExon 5ProteinGermline variantsChymotrypsin activityAlleles
2020
Genome-Wide 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 analysisAssociation 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 typeCancerGenome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
Zhang H, Ahearn TU, Lecarpentier J, Barnes D, Beesley J, Qi G, Jiang X, O’Mara T, Zhao N, Bolla MK, Dunning AM, Dennis J, Wang Q, Ful ZA, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Arun BK, Auer PL, Azzollini J, Barrowdale D, Becher H, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bialkowska K, Blanco A, Blomqvist C, Bogdanova NV, Bojesen SE, Bonanni B, Bondavalli D, Borg A, Brauch H, Brenner H, Briceno I, Broeks A, Brucker SY, Brüning T, Burwinkel B, Buys SS, Byers H, Caldés T, Caligo MA, Calvello M, Campa D, Castelao JE, Chang-Claude J, Chanock SJ, Christiaens M, Christiansen H, Chung WK, Claes KBM, Clarke CL, Cornelissen S, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Diez O, Domchek SM, Dörk T, Dwek M, Eccles DM, Ekici AB, Evans DG, Fasching PA, Figueroa J, Foretova L, Fostira F, Friedman E, Frost D, Gago-Dominguez M, Gapstur SM, Garber J, García-Sáenz JA, Gaudet MM, Gayther SA, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Gronwald J, Guénel P, Häberle L, Hahnen E, Haiman CA, Hake CR, Hall P, Hamann U, Harkness EF, Heemskerk-Gerritsen BAM, Hillemanns P, Hogervorst FBL, Holleczek B, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Howell A, Huebner H, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Jager A, Jakimovska M, Jakubowska A, James P, Janavicius R, Janni W, John E, Jones M, Jung A, Kaaks R, Kapoor P, Karlan B, Keeman R, Khan S, Khusnutdinova E, Kitahara C, Ko Y, Konstantopoulou I, Koppert L, Koutros S, Kristensen V, Laenkholm A, Lambrechts D, Larsson S, Laurent-Puig P, Lazaro C, Lazarova E, Lejbkowicz F, Leslie G, Lesueur F, Lindblom A, Lissowska J, Lo W, Loud J, Lubinski J, Lukomska A, MacInnis R, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez M, Matricardi L, McGuffog L, McLean C, Mebirouk N, Meindl A, Menon U, Miller A, Mingazheva E, Montagna M, Mulligan A, Mulot C, Muranen T, Nathanson K, Neuhausen S, Nevanlinna H, Neven P, Newman W, Nielsen F, Nikitina-Zake L, Nodora J, Offit K, Olah E, Olopade O, Olsson H, Orr N, Papi L, Papp J, Park-Simon T, Parsons M, Peissel B, Peixoto A, Peshkin B, Peterlongo P, Peto J, Phillips K, Piedmonte M, Plaseska-Karanfilska D, Prajzendanc K, Prentice R, Prokofyeva D, Rack B, Radice P, Ramus S, Rantala J, Rashid M, Rennert G, Rennert H, Risch H, Romero A, Rookus M, Rübner M, Rüdiger T, Saloustros E, Sampson S, Sandler D, Sawyer E, Scheuner M, Schmutzler R, Schneeweiss A, Schoemaker M, Schöttker B, Schürmann P, Senter L, Sharma P, Sherman M, Shu X, Singer C, Smichkoska S, Soucy P, Southey M, Spinelli J, Stone J, Stoppa-Lyonnet D, Swerdlow A, Szabo C, Tamimi R, Tapper W, Taylor J, Teixeira M, Terry M, Thomassen M, Thull D, Tischkowitz M, Toland A, Tollenaar R, Tomlinson I, Torres D, Troester M, Truong T, Tung N, Untch M, Vachon C, van den Ouweland A, van der Kolk L, van Veen E, vanRensburg E, Vega A, Wappenschmidt B, Weinberg C, Weitzel J, Wildiers H, Winqvist R, Wolk A, Yang X, Yannoukakos D, Zheng W, Zorn K, Milne R, Kraft P, Simard J, Pharoah P, Michailidou K, Antoniou A, Schmidt M, Chenevix-Trench G, Easton D, Chatterjee N, García-Closas M. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses. Nature Genetics 2020, 52: 572-581. PMID: 32424353, PMCID: PMC7808397, DOI: 10.1038/s41588-020-0609-2.Peer-Reviewed Original ResearchConceptsSusceptibility lociAssociation studiesGenome-wide association studiesCell-specific enhancerWide association studyNovel breast cancer susceptibility lociNovel susceptibility lociBasal mammary cellsBreast cancer susceptibility lociCancer susceptibility lociTriple-negative diseaseCancer susceptibility variantsChip heritabilityNovel lociPolygenic risk scoresSilico analysisLociSusceptibility variantsGenetic correlationsRisk scoreMammary cellsHuman epidermal growth factor receptor 2 (HER2) statusEpidermal growth factor receptor 2 statusBreast cancer susceptibility variantsEuropean ancestryRisk 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 BMI
2019
Genome-wide Analysis of Common Copy Number Variation and Epithelial Ovarian Cancer Risk
Reid BM, Permuth JB, Chen YA, Fridley BL, Iversen ES, Chen Z, Jim H, Vierkant RA, Cunningham JM, Barnholtz-Sloan JS, Narod S, Risch H, Schildkraut JM, Goode EL, Monteiro AN, Sellers TA. Genome-wide Analysis of Common Copy Number Variation and Epithelial Ovarian Cancer Risk. Cancer Epidemiology Biomarkers & Prevention 2019, 28: 1117-1126. PMID: 30948450, PMCID: PMC6606353, DOI: 10.1158/1055-9965.epi-18-0833.Peer-Reviewed Original ResearchMeSH KeywordsCarcinoma, Ovarian EpithelialCase-Control StudiesDNA Copy Number VariationsFemaleGenome-Wide Association StudyHumansConceptsCommon CNV regionsCopy number variationsEOC susceptibilityNumber variationsTumor gene expressionGenome-wide analysisDNA copy number variationsWide association studyCommon copy number variationCancer Genome AtlasGenetic variationCNV regionsAssociation studiesFrequency variantsTCGA tumorsSomatic deletionGenome AtlasDeletionUse of aspirin, other nonsteroidal anti-inflammatory drugs and acetaminophen and risk of endometrial cancer: the Epidemiology of Endometrial Cancer Consortium
Webb PM, Na R, Weiderpass E, Adami HO, Anderson KE, Bertrand KA, Botteri E, Brasky TM, Brinton LA, Chen C, Doherty JA, Lu L, McCann SE, Moysich KB, Olson S, Petruzella S, Palmer JR, Prizment AE, Schairer C, Setiawan VW, Spurdle AB, Trabert B, Wentzensen N, Wilkens L, Yang HP, Yu H, Risch HA, Jordan SJ. Use of aspirin, other nonsteroidal anti-inflammatory drugs and acetaminophen and risk of endometrial cancer: the Epidemiology of Endometrial Cancer Consortium. Annals Of Oncology 2019, 30: 310-316. PMID: 30566587, PMCID: PMC6386026, DOI: 10.1093/annonc/mdy541.Peer-Reviewed Original ResearchConceptsNon-aspirin nonsteroidal anti-inflammatory drugsNonsteroidal anti-inflammatory drugsEndometrial Cancer ConsortiumEndometrial cancerAnti-inflammatory drugsObese womenOdds ratioCancer ConsortiumStudy-specific odds ratiosLogistic regressionStandard-dose aspirinUse of aspirinUse of acetaminophenConfidence intervalsTimes/weekCase-control studyRisk of cancerMixed-effects logistic regressionLow-dose formulationsLeast weekly useNormal weightPooled analysisInverse associationStratified analysisReduced riskShared 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 ResearchConceptsGenome-wide association studiesGene setsSingle nucleotide polymorphismsFunctional annotationEpidermal growth factor receptor transactivationExpression quantitative trait loci (eQTL) analysisQuantitative trait locus (QTL) analysisGrowth factor receptor transactivationTop single nucleotide polymorphismsG protein-coupled receptorsGene-set analysisProtein-coupled receptorsIndividual single nucleotide polymorphismsBeta-cell developmentEQTL analysisGWAS dataPCC genesPancreatic ductal adenocarcinomaReceptor transactivationLocus analysisPathway analysisAssociation studiesGenesSusceptibility genesIdentifies associationsrs495139 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 SynthasePancreatic 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 analysisAdult height is associated with increased risk of ovarian cancer: a Mendelian randomisation study
Dixon-Suen SC, Nagle CM, Thrift AP, Pharoah PDP, Ewing A, Pearce CL, Zheng W, Australian Ovarian Cancer Study Group, Chenevix-Trench G, Fasching PA, Beckmann MW, Lambrechts D, Vergote I, Lambrechts S, Van Nieuwenhuysen E, Rossing MA, Doherty JA, Wicklund KG, Chang-Claude J, Jung AY, Moysich KB, Odunsi K, Goodman MT, Wilkens LR, Thompson PJ, Shvetsov YB, Dörk T, Park-Simon TW, Hillemanns P, Bogdanova N, Butzow R, Nevanlinna H, Pelttari LM, Leminen A, Modugno F, Ness RB, Edwards RP, Kelley JL, Heitz F, du Bois A, Harter P, Schwaab I, Karlan BY, Lester J, Orsulic S, Rimel BJ, Kjær SK, Høgdall E, Jensen A, Goode EL, Fridley BL, Cunningham JM, Winham SJ, Giles GG, Bruinsma F, Milne RL, Southey MC, Hildebrandt MAT, Wu X, Lu KH, Liang D, Levine DA, Bisogna M, Schildkraut JM, Berchuck A, Cramer DW, Terry KL, Bandera EV, Olson SH, Salvesen HB, Thomsen LCV, Kopperud RK, Bjorge L, Kiemeney LA, Massuger LFAG, Pejovic T, Bruegl A, Cook LS, Le ND, Swenerton KD, Brooks-Wilson A, Kelemen LE, Lubiński J, Huzarski T, Gronwald J, Menkiszak J, Wentzensen N, Brinton L, Yang H, Lissowska J, Høgdall CK, Lundvall L, Song H, Tyrer JP, Campbell I, Eccles D, Paul J, Glasspool R, Siddiqui N, Whittemore AS, Sieh W, McGuire V, Rothstein JH, Narod SA, Phelan C, Risch HA, McLaughlin JR, Anton-Culver H, Ziogas A, Menon U, Gayther SA, Ramus SJ, Gentry-Maharaj A, Wu AH, Pike MC, Tseng CC, Kupryjanczyk J, Dansonka-Mieszkowska A, Budzilowska A, Rzepecka IK, Webb PM, on behalf of the Ovarian Cancer Association Consortium. Adult height is associated with increased risk of ovarian cancer: a Mendelian randomisation study. British Journal Of Cancer 2018, 118: 1123-1129. PMID: 29555990, PMCID: PMC5931085, DOI: 10.1038/s41416-018-0011-3.Peer-Reviewed Original ResearchConceptsOvarian cancer riskMendelian randomisationOdds ratioOvarian cancerCancer riskStudy-specific odds ratiosConfidence intervalsMendelian randomisation studyBackgroundObservational studiesOvarian carcinogenesisRisk scoreAdult heightConsortium studySingle nucleotide polymorphismsRiskCancerGenetic propensityPolycystic Ovary Syndrome, Oligomenorrhea, and Risk of Ovarian Cancer Histotypes: Evidence from the Ovarian Cancer Association Consortium
Harris HR, Babic A, Webb PM, Nagle CM, Jordan SJ, Group O, Risch H, Rossing M, Doherty J, Goodman M, Modugno F, Ness R, Moysich K, Kjær S, Høgdall E, Jensen A, Schildkraut J, Berchuck A, Cramer D, Bandera E, Wentzensen N, Kotsopoulos J, Narod S, Phelan C, McLaughlin J, Anton-Culver H, Ziogas A, Pearce C, Wu A, Terry K, Consortium O. Polycystic Ovary Syndrome, Oligomenorrhea, and Risk of Ovarian Cancer Histotypes: Evidence from the Ovarian Cancer Association Consortium. Cancer Epidemiology Biomarkers & Prevention 2018, 27: 174-182. PMID: 29141849, PMCID: PMC5877463, DOI: 10.1158/1055-9965.epi-17-0655.Peer-Reviewed Original ResearchConceptsInvasive ovarian cancerPolycystic ovary syndromeOvarian cancer riskMenstrual cycle lengthOvarian cancerCancer riskDecreased riskSelf-reported polycystic ovary syndromeLogistic regressionCycle lengthStudy-specific ORsIrregular menstrual cyclesSerous borderline tumorsRisk factor associationsCase-control studyOvarian cancer histotypesPolytomous logistic regressionMucinous tumorsOvary syndromeBorderline tumorsHistologic subtypeOvarian diseaseMenstrual cycleCancer histotypesHistotype
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 scorePatientsEsophagusAbstractTextRacial/ethnic differences in the epidemiology of ovarian cancer: a pooled analysis of 12 case-control studies
Peres LC, Risch H, Terry KL, Webb PM, Goodman MT, Wu AH, Alberg AJ, Bandera EV, Barnholtz-Sloan J, Bondy ML, Cote ML, Funkhouser E, Moorman PG, Peters ES, Schwartz AG, Terry PD, Manichaikul A, Abbott SE, Camacho F, Jordan SJ, Nagle CM, Group A, Rossing M, Doherty J, Modugno F, Moysich K, Ness R, Berchuck A, Cook L, Le N, Brooks-Wilson A, Sieh W, Whittemore A, McGuire V, Rothstein J, Anton-Culver H, Ziogas A, Pearce C, Tseng C, Pike M, Schildkraut J, Consortium T. Racial/ethnic differences in the epidemiology of ovarian cancer: a pooled analysis of 12 case-control studies. International Journal Of Epidemiology 2017, 47: 460-472. PMID: 29211900, PMCID: PMC5913601, DOI: 10.1093/ije/dyx252.Peer-Reviewed Original ResearchConceptsAfrican American Cancer Epidemiology StudyRace/ethnicityCase-control studyOvarian Cancer Association ConsortiumOdds ratioLargest odds ratioRisk factorsFamily historyEOC riskFirst-degree family historyModifiable risk factorsMultivariable logistic regressionOvarian cancer incidenceRisk factor associationsCancer Epidemiology StudyEthnic differencesAsian/Pacific IslandersOvarian cancer etiologyBlack womenInvasive EOCPooled analysisEpidemiological characteristicsCancer incidenceOvarian cancerHigh prevalenceA pooled analysis of dietary sugar/carbohydrate intake and esophageal and gastric cardia adenocarcinoma incidence and survival in the USA
Li N, Petrick JL, Steck SE, Bradshaw PT, McClain KM, Niehoff NM, Engel LS, Shaheen NJ, Risch HA, Vaughan TL, Wu AH, Gammon MD. A pooled analysis of dietary sugar/carbohydrate intake and esophageal and gastric cardia adenocarcinoma incidence and survival in the USA. International Journal Of Epidemiology 2017, 46: 1836-1846. PMID: 29040685, PMCID: PMC5837717, DOI: 10.1093/ije/dyx203.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAgedBlood GlucoseBody Mass IndexCase-Control StudiesDietary CarbohydratesDietary SucroseEsophageal NeoplasmsFemaleGastroesophageal RefluxHumansIncidenceLogistic ModelsMaleMiddle AgedMultivariate AnalysisNutrition AssessmentProportional Hazards ModelsRisk FactorsStomach NeoplasmsUnited StatesConceptsGastro-esophageal reflux diseaseBody mass indexCarbohydrate intakeAdenocarcinoma incidenceGCA incidenceOdds ratioUS population-based case-control studyStudy-specific food-frequency questionnairesPopulation-based case-control studyCox proportional hazards regressionGlycaemic indexDietary glycaemic indexFood frequency questionnaireProportional hazards regressionCase-control studyIntake of sucroseHigh glycaemic indexCarbohydrate measuresFrequency questionnaireHazard ratioReflux diseaseMass indexHazards regressionVital statusPooled analysis