2019
Shared 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
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 scorePatientsEsophagusAbstractText
2015
Joint Effect of Genotypic and Phenotypic Features of Reproductive Factors on Endometrial Cancer Risk
Wang Z, Risch H, Lu L, Irwin ML, Mayne S, Schwartz P, Rutherford T, De Vivo I, Yu H. Joint Effect of Genotypic and Phenotypic Features of Reproductive Factors on Endometrial Cancer Risk. Scientific Reports 2015, 5: 15582. PMID: 26498156, PMCID: PMC4620445, DOI: 10.1038/srep15582.Peer-Reviewed Original ResearchConceptsEndometrial cancer riskEndometrial cancerCancer riskEstrogen exposureEndometrial cancer patientsTime of studyGenetic risk scorePotential confoundersCancer patientsMenstrual cycleReproductive factorsRisk scorePossible markerMajor causeCancerMenopauseObesityPhenotypic featuresRiskPopulation controlsAgeMenarcheWomenExposureTNMCEvidence of a genetic link between endometriosis and ovarian cancer
Lee A, Templeman C, Stram D, Beesley J, Tyrer J, Berchuck A, Pharoah P, Chenevix-Trench G, Pearce C, Consortium O, Ness R, Dansonka-Mieszkowska A, Gentry-Maharaj A, Hein A, Whittemore A, Jensen A, du Bois A, Brooks-Wilson A, Rudolph A, Jakubowska A, Wu A, Ziogas A, Ekici A, Leminen A, Study A, Group A, Rosen B, Spiewankiewicz B, Karlan B, Trabert B, Fridley B, Gilks C, Krakstad C, Phelan C, Cybulski C, Walsh C, Hogdall C, Cramer D, Huntsman D, Eccles D, Lambrechts D, Liang D, Levine D, Iversen E, Bandera E, Poole E, Goode E, Van Nieuwenhuysen E, Hogdall E, Bruinsma F, Heitz F, Modugno F, Giles G, Risch H, Baker H, Salvesen H, Nevanlinna H, Anton-Culver H, Song H, McNeish I, Campbell I, Vergote I, Runnebaum I, Tangen I, Schwaab I, Gronwald J, Paul J, Lubinski J, Doherty J, Chang-Claude J, Lester J, Schildkraut J, McLaughlin J, Lissowska J, Kupryjanczyk J, Tyrer J, Kelley J, Rothstein J, Cunningham J, Lu K, Carty K, Terry K, Aben K, Moysich K, Wicklund K, Odunsi K, Kiemeney L, Sucheston-Campbell L, Lundvall L, Massuger L, Pelttari L, Kelemen L, Cook L, Bjorge L, Nedergaard L, Brinton L, Wilkens L, Pike M, Goodman M, Bisogna M, Rossing M, Beckmann M, Dürst M, Southey M, Kellar M, Hildebrandt M, Siddiqui N, Antonenkova N, Bogdanova N, Le N, Wentzensen N, Thompson P, Harrington P, Webb P, Fasching P, Hillemanns P, Harter P, Sobiczewski P, Weber R, Butzow R, Edwards R, Vierkant R, Glasspool R, Orsulic S, Lambrechts S, Olson S, Wang-Gohrke S, Lele S, Tworoger S, Gayther S, Missmer S, Narod S, Ramus S, Kjaer S, Pejovic T, Dörk T, Eilber U, Menon U, McGuire V, Sieh W, Wu X, Bean Y, Shvetsov Y. Evidence of a genetic link between endometriosis and ovarian cancer. Fertility And Sterility 2015, 105: 35-43.e10. PMID: 26477498, PMCID: PMC5068352, DOI: 10.1016/j.fertnstert.2015.09.023.Peer-Reviewed Original Research
2013
ABO Blood Group and Risk of Pancreatic Cancer: A Study in Shanghai and Meta-Analysis
Risch HA, Lu L, Wang J, Zhang W, Ni Q, Gao YT, Yu H. ABO Blood Group and Risk of Pancreatic Cancer: A Study in Shanghai and Meta-Analysis. American Journal Of Epidemiology 2013, 177: 1326-1337. PMID: 23652164, PMCID: PMC3732019, DOI: 10.1093/aje/kws458.Peer-Reviewed Original ResearchConceptsABO blood groupGroup BBlood groupPancreatic cancerNonendemic populationsGroup ASummary odds ratio (OR) estimatesGastric epithelial expressionPositive Helicobacter pyloriCagA-negative H. pylori strainsCytotoxin-associated genePancreatic cancer casesBlood group BOdds ratio estimatesH. pylori strainsPooled studiesCancer casesEpithelial expressionHigh riskB antigensGroup OSystematic reviewMeta-AnalysisHelicobacter pyloriPylori strains
2007
IGF-I in epithelial ovarian cancer and its role in disease progression
Brokaw J, Katsaros D, Wiley A, Lu L, Su D, Sochirca O, de la Longrais IA, Mayne S, Risch H, Yu H. IGF-I in epithelial ovarian cancer and its role in disease progression. Growth Factors 2007, 25: 346-354. PMID: 18236213, DOI: 10.1080/08977190701838402.Peer-Reviewed Original ResearchConceptsIGF-I transcriptsDisease progressionOvarian cancerTumor progressionEpithelial ovarian cancer patientsIGF-I mRNA expressionInsulin-like growth factorParacrine/autocrine regulationIGF-I activityEpithelial ovarian cancerIGF-I actionOvarian cancer patientsFresh tumor samplesIGF-I expressionIGF-I mRNAOvarian cancer progressionEnzyme-linked immunosorbentParacrine/autocrineTotal IGFFree IGFClinicopathologic featuresCA polymorphismCancer patientsReal-time PCRElevated risk
2006
A Functional Polymorphism of Toll-Like Receptor 4 Gene Increases Risk of Gastric Carcinoma and Its Precursors
Hold GL, Rabkin CS, Chow W, Smith MG, Gammon MD, Risch HA, Vaughan TL, McColl KE, Lissowska J, Zatonski W, Schoenberg JB, Blot WJ, Mowat NA, Fraumeni JF, El–Omar E. A Functional Polymorphism of Toll-Like Receptor 4 Gene Increases Risk of Gastric Carcinoma and Its Precursors. Gastroenterology 2006, 132: 905-912. PMID: 17324405, DOI: 10.1053/j.gastro.2006.12.026.Peer-Reviewed Original ResearchMeSH KeywordsAchlorhydriaCarcinomaCase-Control StudiesCohort StudiesEuropeFemaleGastritis, AtrophicGene Expression Regulation, NeoplasticGene FrequencyGenetic Predisposition to DiseaseGenotypeHelicobacter InfectionsHelicobacter pyloriHumansLogistic ModelsMaleOdds RatioPhenotypePolymorphism, GeneticPopulation SurveillancePrecancerous ConditionsRegistriesRisk AssessmentRisk FactorsStomach NeoplasmsToll-Like Receptor 4United StatesConceptsH pylori infectionGastric carcinoma patientsNoncardia gastric carcinomaOdds ratioGastric carcinomaCardia carcinomaGastric atrophyCarcinoma patientsPylori infectionG polymorphismPopulation-based case-control studyUpper gastrointestinal tract cancerSevere gastric atrophyFrequency-matched controlsGastric acid outputGastrointestinal tract cancerGastric cancer patientsGastric cardia carcinomaCase-control studyEsophageal squamous cellsPotential confounding factorsGastric carcinoma casesGastric changesTract cancerAcid output