2015
TERT gene harbors multiple variants associated with pancreatic cancer susceptibility
Campa D, Rizzato C, Stolzenberg-Solomon R, Pacetti P, Vodicka P, Cleary SP, Capurso G, Bueno-de-Mesquita HB, Werner J, Gazouli M, Butterbach K, Ivanauskas A, Giese N, Petersen GM, Fogar P, Wang Z, Bassi C, Ryska M, Theodoropoulos GE, Kooperberg C, Li D, Greenhalf W, Pasquali C, Hackert T, Fuchs CS, Mohelnikova-Duchonova B, Sperti C, Funel N, Dieffenbach AK, Wareham NJ, Buring J, Holcátová I, Costello E, Zambon CF, Kupcinskas J, Risch HA, Kraft P, Bracci PM, Pezzilli R, Olson SH, Sesso HD, Hartge P, Strobel O, Małecka-Panas E, Visvanathan K, Arslan AA, Pedrazzoli S, Souček P, Gioffreda D, Key TJ, Talar-Wojnarowska R, Scarpa A, Mambrini A, Jacobs EJ, Jamroziak K, Klein A, Tavano F, Bambi F, Landi S, Austin MA, Vodickova L, Brenner H, Chanock SJ, Delle Fave G, Piepoli A, Cantore M, Zheng W, Wolpin BM, Amundadottir LT, Canzian F. TERT gene harbors multiple variants associated with pancreatic cancer susceptibility. International Journal Of Cancer 2015, 137: 2175-2183. PMID: 25940397, PMCID: PMC4548797, DOI: 10.1002/ijc.29590.Peer-Reviewed Original ResearchConceptsPancreatic cancer riskCancer riskTelomerase reverse transcriptasePancreatic cancerSingle nucleotide polymorphismsAdditional single nucleotide polymorphismsTelomerase RNA component genePancreatic cancer susceptibilitySignificant associationCommon susceptibility lociCancer susceptibilityStatistical significanceRs401681RiskReverse transcriptaseTERT locusCancerDisease researchMultiple testingNucleotide polymorphismsLinkage disequilibriumIndependent variantsSusceptibility loci
2014
Evaluating the ovarian cancer gonadotropin hypothesis: A candidate gene study
Lee AW, Tyrer JP, Doherty JA, Stram DA, Kupryjanczyk J, Dansonka-Mieszkowska A, Plisiecka-Halasa J, Spiewankiewicz B, Myers EJ, Study A, Group A, Chenevix-Trench G, Fasching PA, Beckmann MW, Ekici AB, Hein A, Vergote I, Van Nieuwenhuysen E, Lambrechts D, Wicklund KG, Eilber U, Wang-Gohrke S, Chang-Claude J, Rudolph A, Sucheston-Campbell L, Odunsi K, Moysich KB, Shvetsov YB, Thompson PJ, Goodman MT, Wilkens LR, Dörk T, Hillemanns P, Dürst M, Runnebaum IB, Bogdanova N, Pelttari LM, Nevanlinna H, Leminen A, Edwards RP, Kelley JL, Harter P, Schwaab I, Heitz F, du Bois A, Orsulic S, Lester J, Walsh C, Karlan BY, Hogdall E, Kjaer SK, Jensen A, Vierkant RA, Cunningham JM, Goode EL, Fridley BL, Southey MC, Giles GG, Bruinsma F, Wu X, Hildebrandt MA, Lu K, Liang D, Bisogna M, Levine DA, Weber RP, Schildkraut JM, Iversen ES, Berchuck A, Terry KL, Cramer DW, Tworoger SS, Poole EM, Olson SH, Orlow I, Bandera EV, Bjorge L, Tangen IL, Salvesen HB, Krakstad C, Massuger LF, Kiemeney LA, Aben KK, van Altena AM, Bean Y, Pejovic T, Kellar M, Le ND, Cook LS, Kelemen LE, Brooks-Wilson A, Lubinski J, Gronwald J, Cybulski C, Jakubowska A, Wentzensen N, Brinton LA, Lissowska J, Yang H, Nedergaard L, Lundvall L, Hogdall C, Song H, Campbell IG, Eccles D, Glasspool R, Siddiqui N, Carty K, Paul J, McNeish IA, Sieh W, McGuire V, Rothstein JH, Whittemore AS, McLaughlin JR, Risch HA, Phelan CM, Anton-Culver H, Ziogas A, Menon U, Ramus SJ, Gentry-Maharaj A, Harrington P, Pike MC, Modugno F, Rossing MA, Ness RB, Pharoah PD, Stram DO, Wu AH, Pearce CL. Evaluating the ovarian cancer gonadotropin hypothesis: A candidate gene study. Gynecologic Oncology 2014, 136: 542-548. PMID: 25528498, PMCID: PMC4892108, DOI: 10.1016/j.ygyno.2014.12.017.Peer-Reviewed Original ResearchConceptsOvarian cancer riskOvarian Cancer StudyCancer riskGene-level associationsOnly modest associationsUnconditional logistic regressionCancer studiesHormone-related diseasesPathway genesGonadotropin hypothesisEtiologic roleGenome-wide significant associationOvarian cancerProstate cancerLarger sample sizeGonadotropinSignificant associationDisease riskModest associationLogistic regressionGene-level testsHigh-penetrance susceptibility genesCandidate gene studiesStrong genetic basisUnderstanding of biologyGastroesophageal Reflux in Relation to Adenocarcinomas of the Esophagus: A Pooled Analysis from the Barrett’s and Esophageal Adenocarcinoma Consortium (BEACON)
Cook MB, Corley DA, Murray LJ, Liao LM, Kamangar F, Ye W, Gammon MD, Risch HA, Casson AG, Freedman ND, Chow WH, Wu AH, Bernstein L, Nyrén O, Pandeya N, Whiteman DC, Vaughan TL. Gastroesophageal Reflux in Relation to Adenocarcinomas of the Esophagus: A Pooled Analysis from the Barrett’s and Esophageal Adenocarcinoma Consortium (BEACON). PLOS ONE 2014, 9: e103508. PMID: 25075959, PMCID: PMC4116205, DOI: 10.1371/journal.pone.0103508.Peer-Reviewed Original ResearchConceptsEsophagogastric junction adenocarcinomaBody mass indexRegurgitation symptomsEsophageal adenocarcinomaEsophageal Adenocarcinoma ConsortiumGastroesophageal refluxCigarette smokingMass indexMultivariable logistic regressionFrequency of symptomsMajor risk factorCase-control studyHeartburn durationSymptom durationJunction adenocarcinomaPooled analysisRisk factorsCancer sitesOdds ratioStratified analysisHigh riskSummary estimatesSignificant associationSymptomsLogistic regression
2013
Polymorphisms in Inflammation Pathway Genes and Endometrial Cancer Risk
Delahanty RJ, Xiang YB, Spurdle A, Beeghly-Fadiel A, Long J, Thompson D, Tomlinson I, Yu H, Lambrechts D, Dörk T, Goodman MT, Zheng Y, Salvesen HB, Bao PP, Amant F, Beckmann MW, Coenegrachts L, Coosemans A, Dubrowinskaja N, Dunning A, Runnebaum IB, Easton D, Ekici AB, Fasching PA, Halle MK, Hein A, Howarth K, Gorman M, Kaydarova D, Krakstad C, Lose F, Lu L, Lurie G, O'Mara T, Matsuno RK, Pharoah P, Risch H, Corssen M, Trovik J, Turmanov N, Wen W, Lu W, Cai Q, Zheng W, Shu XO. Polymorphisms in Inflammation Pathway Genes and Endometrial Cancer Risk. Cancer Epidemiology Biomarkers & Prevention 2013, 22: 216-223. PMID: 23221126, PMCID: PMC3677562, DOI: 10.1158/1055-9965.epi-12-0903.Peer-Reviewed Original ResearchMeSH KeywordsAsian PeopleBiomarkers, TumorCase-Control StudiesChinaEndometrial NeoplasmsFemaleFollow-Up StudiesGene Expression ProfilingGenetic Predisposition to DiseaseHumansInflammationLinkage DisequilibriumMiddle AgedNeoplasm StagingOligonucleotide Array Sequence AnalysisPolymorphism, Single NucleotidePrognosisRisk FactorsConceptsEndometrial cancer riskEndometrial cancer casesEndometrial cancerSingle nucleotide polymorphismsOdds ratioCancer casesEndometrial carcinogenesisCancer riskStage IConfidence intervalsInflammation pathway genesInflammatory pathway genesAllelic odds ratioChronic inflammationEpidemiologic evidenceInflammatory pathwaysPathway genesSignificant associationStage IIGenetic susceptibilityMMP9 polymorphismsAdditional studiesCancerGenetic polymorphismsFollow-up genotypingPolymorphisms in genes related to one-carbon metabolism are not related to pancreatic cancer in PanScan and PanC4
Leenders M, Bhattacharjee S, Vineis P, Stevens V, Bueno-de-Mesquita HB, Shu XO, Amundadottir L, Gross M, Tobias GS, Wactawski-Wende J, Arslan AA, Duell EJ, Fuchs CS, Gallinger S, Hartge P, Hoover RN, Holly EA, Jacobs EJ, Klein AP, Kooperberg C, LaCroix A, Li D, Mandelson MT, Olson SH, Petersen G, Risch HA, Yu K, Wolpin BM, Zheng W, Agalliu I, Albanes D, Boutron-Ruault MC, Bracci PM, Buring JE, Canzian F, Chang K, Chanock SJ, Cotterchio M, Gaziano JM, Giovanucci EL, Goggins M, Hallmans G, Hankinson SE, Hoffman-Bolton JA, Hunter DJ, Hutchinson A, Jacobs KB, Jenab M, Khaw KT, Kraft P, Krogh V, Kurtz RC, McWilliams RR, Mendelsohn JB, Patel AV, Rabe KG, Riboli E, Tjønneland A, Trichopoulos D, Virtamo J, Visvanathan K, Elena JW, Yu H, Zeleniuch-Jacquotte A, Stolzenberg-Solomon RZ. Polymorphisms in genes related to one-carbon metabolism are not related to pancreatic cancer in PanScan and PanC4. Cancer Causes & Control 2013, 24: 595-602. PMID: 23334854, PMCID: PMC4127987, DOI: 10.1007/s10552-012-0138-0.Peer-Reviewed Original ResearchConceptsCase-control studyOne-carbon metabolismSingle nucleotide polymorphismsPancreatic cancerOne-carbon biomarkersEuropean Prospective InvestigationCorrelation of SNPsProspective InvestigationFolate intakePancreatic carcinogenesisLarge genetic studiesGene polymorphismsSignificant associationPANCACancerMetabolite levelsGermline variationP-valueMultiple comparisonsAssociationSuggestive associationPolymorphismSuggestive evidenceMetabolismOCM pathway
2012
Association of large noncoding RNA HOTAIR expression and its downstream intergenic CpG island methylation with survival in breast cancer
Lu L, Zhu G, Zhang C, Deng Q, Katsaros D, Mayne ST, Risch HA, Mu L, Canuto EM, Gregori G, Benedetto C, Yu H. Association of large noncoding RNA HOTAIR expression and its downstream intergenic CpG island methylation with survival in breast cancer. Breast Cancer Research And Treatment 2012, 136: 875-883. PMID: 23124417, DOI: 10.1007/s10549-012-2314-z.Peer-Reviewed Original ResearchConceptsPrimary breast cancerBreast cancerHOTAIR expressionPathologic featuresCox proportional hazards regression modelProportional hazards regression modelsLow HOTAIR expressionUnfavorable disease characteristicsHazards regression modelsIndependent prognostic markerHigh HOTAIR expressionBreast cancer progressionQuantitative RT-PCRPatient survivalDisease characteristicsMethylation-specific PCRPrognostic markerLower riskSignificant associationRNA HOTAIRCancerCancer progressionBiologic relevanceRT-PCRDNA methylation
2011
Genetic Effects and Modifiers of Radiotherapy and Chemotherapy on Survival in Pancreatic Cancer
Zeng H, Yu H, Lu L, Jain D, Kidd MS, Saif MW, Chanock SJ, Hartge P, Risch H. Genetic Effects and Modifiers of Radiotherapy and Chemotherapy on Survival in Pancreatic Cancer. Pancreas 2011, 40: 657-663. PMID: 21487324, PMCID: PMC3116071, DOI: 10.1097/mpa.0b013e31821268d1.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overATP Binding Cassette Transporter, Subfamily G, Member 2ATP-Binding Cassette TransportersCase-Control StudiesConnecticutDihydrouracil Dehydrogenase (NADP)FemaleGenetic MarkersGenetic VariationGenome-Wide Association StudyHumansMaleMiddle AgedNeoplasm ProteinsPancreatic NeoplasmsPolymorphism, Single NucleotidePrognosisProportional Hazards ModelsSerpinsSurvival AnalysisTreatment OutcomeConceptsPancreatic cancerOverall survivalCancer survivalProportional hazards regression modelsSurvival of patientsPopulation-based studyPancreatic cancer survivalHazards regression modelsGerm-line genetic variationEvidence of associationClinical outcomesCancer patientsTreatment outcomesTreatment responseSignificant associationPatientsCancerPrevious genome-wide association study dataRadiotherapyPutative markerGenetic polymorphismsSurvivalDPYD geneChemotherapyEvidence of interaction
2009
Polymorphic Variation of Genes in the Fibrinolytic System and the Risk of Ovarian Cancer
Bentov Y, Brown TJ, Akbari MR, Royer R, Risch H, Rosen B, McLaughlin J, Sun P, Zhang S, Narod SA, Casper RF. Polymorphic Variation of Genes in the Fibrinolytic System and the Risk of Ovarian Cancer. PLOS ONE 2009, 4: e5918. PMID: 19526059, PMCID: PMC2691597, DOI: 10.1371/journal.pone.0005918.Peer-Reviewed Original ResearchConceptsOvarian cancerSingle nucleotide polymorphismsCandidate genesFibrinolytic systemGenesFunctional variantsFunctional SNPsNucleotide polymorphismsPolymorphic variationBlood clot degradationOvarian cancer casesFunctional effectsSNPsHistologic subgroupsRetrograde menstruationCancer casesClot degradationGenotype distributionBlood clotsSignificant associationCancerFibrin productsGermlineInefficient removalRisk
2008
Progesterone receptor variation and risk of ovarian cancer is limited to the invasive endometrioid subtype: results from the ovarian cancer association consortium pooled analysis
Pearce CL, Wu AH, Gayther SA, Bale AE, Beck P, Beesley J, Chanock S, Cramer D, DiCioccio R, Edwards R, Fredericksen Z, Garcia-Closas M, Goode E, Green A, Hartmann L, Hogdall E, Kjær S, Lissowska J, McGuire V, Modugno F, Moysich K, Ness R, Ramus S, Risch H, Sellers T, Song H, Stram D, Terry K, Webb P, Whiteman D, Whittemore A, Zheng W, Pharoah P, Chenevix-Trench G, Pike M, Schildkraut J, Berchuck A, on behalf of the Ovarian Cancer Association Consortium (OCAC). Progesterone receptor variation and risk of ovarian cancer is limited to the invasive endometrioid subtype: results from the ovarian cancer association consortium pooled analysis. British Journal Of Cancer 2008, 98: 282-288. PMID: 18219286, PMCID: PMC2361465, DOI: 10.1038/sj.bjc.6604170.Peer-Reviewed Original ResearchConceptsEndometrioid ovarian cancerOvarian cancer riskProgesterone receptor geneCase-control studyOvarian cancerCancer riskSingle nucleotide polymorphismsPGR single-nucleotide polymorphismInvasive epithelial ovarian cancerOvarian cancer case-control studiesEpithelial ovarian cancerUnconditional logistic regressionCancer case-control studyOvarian cancer casesOvarian Cancer Association ConsortiumTwo-sided p valueEndometrioid subtypePROGINS alleleCancer casesBorderline evidencePROGINS variantSubtype analysisSignificant associationT variantCancer
2007
Inducible nitric oxide synthase, nitrotyrosine and p53 mutations in the molecular pathogenesis of Barrett's esophagus and esophageal adenocarcinoma
Vaninetti NM, Geldenhuys L, Porter GA, Risch H, Hainaut P, Guernsey DL, Casson AG. Inducible nitric oxide synthase, nitrotyrosine and p53 mutations in the molecular pathogenesis of Barrett's esophagus and esophageal adenocarcinoma. Molecular Carcinogenesis 2007, 47: 275-285. PMID: 17849424, DOI: 10.1002/mc.20382.Peer-Reviewed Original ResearchConceptsInducible nitric oxide synthaseINOS mRNA expressionEsophageal adenocarcinomaNitric oxide synthaseP53 mutationsNitric oxideBarrett's esophagusOxide synthaseMRNA expressionEndogenous p53 mutationsGastroesophageal reflux diseaseActive inflammatory processPrimary esophageal adenocarcinomaPotential causative factorsReflux diseaseGastrointestinal malignanciesChronic inflammationINOS overexpressionEsophageal malignancyInflammatory processNormal epitheliumHuman premalignantEsophageal epitheliumMolecular pathogenesisSignificant association
1997
Perineal talc exposure and risk of ovarian carcinoma
Chang S, Risch H. Perineal talc exposure and risk of ovarian carcinoma. Cancer 1997, 79: 2396-2401. PMID: 9191529, DOI: 10.1002/(sici)1097-0142(19970615)79:12<2396::aid-cncr15>3.0.co;2-m.Peer-Reviewed Original ResearchConceptsOvarian carcinomaTalc exposureFrequency of exposureUnconditional logistic regression methodsTalcum powder useInvasive ovarian carcinomasBorderline significant associationPerineal talc exposureBorderline carcinomaMenstrual historyInvasive carcinomaCarcinoma typesEpidemiologic studiesEpidemiologic investigationsCarcinomaSignificant associationPowder useHistologic sectionsLogistic regression methodRole of talcSignificant riskFurther studiesOnly riskRiskPerineum