Featured Publications
Exploiting Gene-Environment Independence for Analysis of Case–Control Studies: An Empirical Bayes-Type Shrinkage Estimator to Trade-Off Between Bias and Efficiency
Mukherjee B, Chatterjee N. Exploiting Gene-Environment Independence for Analysis of Case–Control Studies: An Empirical Bayes-Type Shrinkage Estimator to Trade-Off Between Bias and Efficiency. Biometrics 2007, 64: 685-694. PMID: 18162111, DOI: 10.1111/j.1541-0420.2007.00953.x.Peer-Reviewed Original ResearchConceptsGene-environment independenceShrinkage estimatorsLog odds ratio parametersCase-control dataGene-environment independence assumptionOdds ratio parametersCase-control estimatorsData-adaptive fashionData exampleProspective logistic regression analysisBinary exposureGene-environment associationsIndependence assumptionLogistic regression analysisCase-onlyMaximum likelihood frameworkEstimationSample sizeBinary genesRegression analysisChatterjeeExamplesWeighted averageAssumptionsRisk of Non-Melanoma Cancers in First-Degree Relatives of CDKN2A Mutation Carriers
Mukherjee B, DeLancey J, Raskin L, Everett J, Jeter J, Begg C, Orlow I, Berwick M, Armstrong B, Kricker A, Marrett L, Millikan R, Culver H, Rosso S, Zanetti R, Kanetsky P, From L, Gruber S, Investigators F. Risk of Non-Melanoma Cancers in First-Degree Relatives of CDKN2A Mutation Carriers. Journal Of The National Cancer Institute 2012, 104: 953-956. PMID: 22534780, PMCID: PMC3379723, DOI: 10.1093/jnci/djs221.Peer-Reviewed Original ResearchConceptsFirst-degree relatives of carriersCDKN2A mutation carriersFirst-degree relativesMutation carriersNon-melanoma cancersFirst-degree relatives of melanoma patientsFirst-degree relatives of mutation carriersKin-cohort methodConfidence intervalsRisk of cancerMelanoma patientsLifetime riskProband's genotypeNon-melanomaFamily membersIncreased riskGastrointestinal cancerCDKN2A mutationsWilms tumorRiskMelanoma StudyPancreatic cancerNoncarriersGenotype distributionMelanoma
2023
Cohort profile: Epidemiologic Questionnaire (EPI-Q) – a scalable, app-based health survey linked to electronic health record and genotype data
Salvatore M, Clark-Boucher D, Fritsche L, Ortlieb J, Houghtby J, Driscoll A, Caldwell-Larkins B, Smith J, Brummett C, Kheterpal S, Lisabeth L, Mukherjee B. Cohort profile: Epidemiologic Questionnaire (EPI-Q) – a scalable, app-based health survey linked to electronic health record and genotype data. Epidemiology And Health 2023, 45: e2023074. PMID: 37591787, PMCID: PMC10867525, DOI: 10.4178/epih.e2023074.Peer-Reviewed Original ResearchConceptsElectronic health recordsHealth recordsSelf-reported health dataFamily health historyEpidemiological questionnaireCancer screeningHealth cohortHealth SurveyHealth historyFinancial toxicityBaseline surveyEHR dataHealth dataCohort dataEPI-QAverage ageOccupational exposureGenotype dataParticipantsGenotype informationInstitutional review board approvalResponse rateCohortLife meaningQuestionnaire
2019
Exploring various polygenic risk scores for skin cancer in the phenomes of the Michigan genomics initiative and the UK Biobank with a visual catalog: PRSWeb
Fritsche L, Beesley L, VandeHaar P, Peng R, Salvatore M, Zawistowski M, Taliun S, Das S, LeFaive J, Kaleba E, Klumpner T, Moser S, Blanc V, Brummett C, Kheterpal S, Abecasis G, Gruber S, Mukherjee B. Exploring various polygenic risk scores for skin cancer in the phenomes of the Michigan genomics initiative and the UK Biobank with a visual catalog: PRSWeb. PLOS Genetics 2019, 15: e1008202. PMID: 31194742, PMCID: PMC6592565, DOI: 10.1371/journal.pgen.1008202.Peer-Reviewed Original ResearchConceptsMichigan Genomics InitiativeElectronic health recordsPolygenic risk scoresSkin cancer subtypesPheWAS resultsUK BiobankElectronic health record dataLongitudinal biorepository effortPhenome-wide association studyRisk scoreHealth record dataUK Biobank dataPrediction of disease riskPublicly-available sourcesHealth recordsGenetic architectureBiobank dataMichigan MedicineRecord dataSecondary phenotypesDisease riskVisual catalogAssociation studiesGenome InitiativePheWASA comprehensive gene–environment interaction analysis in Ovarian Cancer using genome‐wide significant common variants
Kim S, Wang M, Tyrer J, Jensen A, Wiensch A, Liu G, Lee A, Ness R, Salvatore M, Tworoger S, Whittemore A, Anton‐Culver H, Sieh W, Olson S, Berchuck A, Goode E, Goodman M, Doherty J, Chenevix‐Trench G, Rossing M, Webb P, Giles G, Terry K, Ziogas A, Fortner R, Menon U, Gayther S, Wu A, Song H, Brooks‐Wilson A, Bandera E, Cook L, Cramer D, Milne R, Winham S, Kjaer S, Modugno F, Thompson P, Chang‐Claude J, Harris H, Schildkraut J, Le N, Wentzensen N, Trabert B, Høgdall E, Huntsman D, Pike M, Pharoah P, Pearce C, Mukherjee B. A comprehensive gene–environment interaction analysis in Ovarian Cancer using genome‐wide significant common variants. International Journal Of Cancer 2019, 144: 2192-2205. PMID: 30499236, PMCID: PMC6399057, DOI: 10.1002/ijc.32029.Peer-Reviewed Original ResearchConceptsOral contraceptive pill useExcess risk due to additive interactionOvarian cancer risk factorsOral contraceptive pillsGene-environment interaction analysisCancer risk factorsGene-environment analysisOvarian cancer casesOCP useCase-control studyGenome-wide association analysisAdditive scaleCancer casesOvarian cancerOdds ratioCommon variantsDuration of OCP useRisk allelesRisk factorsGenetic variantsAdditive interactionAssociation analysisWomenFollow-upC allele
2018
Novel Common Genetic Susceptibility Loci for Colorectal Cancer
Schmit SL, Edlund CK, Schumacher FR, Gong J, Harrison TA, Huyghe JR, Qu C, Melas M, Van Den Berg DJ, Wang H, Tring S, Plummer SJ, Albanes D, Alonso MH, Amos CI, Anton K, Aragaki AK, Arndt V, Barry EL, Berndt SI, Bezieau S, Bien S, Bloomer A, Boehm J, Boutron-Ruault MC, Brenner H, Brezina S, Buchanan DD, Butterbach K, Caan BJ, Campbell PT, Carlson CS, Castelao JE, Chan AT, Chang-Claude J, Chanock SJ, Cheng I, Cheng YW, Chin LS, Church JM, Church T, Coetzee GA, Cotterchio M, Correa M, Curtis KR, Duggan D, Easton DF, English D, Feskens EJM, Fischer R, FitzGerald LM, Fortini BK, Fritsche LG, Fuchs CS, Gago-Dominguez M, Gala M, Gallinger SJ, Gauderman WJ, Giles GG, Giovannucci EL, Gogarten SM, Gonzalez-Villalpando C, Gonzalez-Villalpando EM, Grady WM, Greenson JK, Gsur A, Gunter M, Haiman CA, Hampe J, Harlid S, Harju JF, Hayes RB, Hofer P, Hoffmeister M, Hopper JL, Huang SC, Huerta JM, Hudson TJ, Hunter DJ, Idos GE, Iwasaki M, Jackson RD, Jacobs EJ, Jee SH, Jenkins MA, Jia WH, Jiao S, Joshi AD, Kolonel LN, Kono S, Kooperberg C, Krogh V, Kuehn T, Küry S, LaCroix A, Laurie CA, Lejbkowicz F, Lemire M, Lenz HJ, Levine D, Li CI, Li L, Lieb W, Lin Y, Lindor NM, Liu YR, Loupakis F, Lu Y, Luh F, Ma J, Mancao C, Manion FJ, Markowitz SD, Martin V, Matsuda K, Matsuo K, McDonnell KJ, McNeil CE, Milne R, Molina AJ, Mukherjee B, Murphy N, Newcomb PA, Offit K, Omichessan H, Palli D, Cotoré JPP, Pérez-Mayoral J, Pharoah PD, Potter JD, Qu C, Raskin L, Rennert G, Rennert HS, Riggs BM, Schafmayer C, Schoen RE, Sellers TA, Seminara D, Severi G, Shi W, Shibata D, Shu XO, Siegel EM, Slattery ML, Southey M, Stadler ZK, Stern MC, Stintzing S, Taverna D, Thibodeau SN, Thomas DC, Trichopoulou A, Tsugane S, Ulrich CM, van Duijnhoven FJB, van Guelpan B, Vijai J, Virtamo J, Weinstein SJ, White E, Win AK, Wolk A, Woods M, Wu AH, Wu K, Xiang YB, Yen Y, Zanke BW, Zeng YX, Zhang B, Zubair N, Kweon SS, Figueiredo JC, Zheng W, Le Marchand L, Lindblom A, Moreno V, Peters U, Casey G, Hsu L, Conti DV, Gruber SB. Novel Common Genetic Susceptibility Loci for Colorectal Cancer. Journal Of The National Cancer Institute 2018, 111: 146-157. PMID: 29917119, PMCID: PMC6555904, DOI: 10.1093/jnci/djy099.Peer-Reviewed Original Research
2016
A splicing variant of TERT identified by GWAS interacts with menopausal estrogen therapy in risk of ovarian cancer
Lee A, Bomkamp A, Bandera E, Jensen A, Ramus S, Goodman M, Rossing M, Modugno F, Moysich K, Chang‐Claude J, Rudolph A, Gentry‐Maharaj A, Terry K, Gayther S, Cramer D, Doherty J, Schildkraut J, Kjaer S, Ness R, Menon U, Berchuck A, Mukherjee B, Roman L, Pharoah P, Chenevix‐Trench G, Olson S, Hogdall E, Wu A, Pike M, Stram D, Pearce C, Consortium F. A splicing variant of TERT identified by GWAS interacts with menopausal estrogen therapy in risk of ovarian cancer. International Journal Of Cancer 2016, 139: 2646-2654. PMID: 27420401, PMCID: PMC5500237, DOI: 10.1002/ijc.30274.Peer-Reviewed Original ResearchMeSH KeywordsAge FactorsAgedAged, 80 and overAllelesAlternative SplicingCase-Control StudiesDisease SusceptibilityEstrogen Replacement TherapyFemaleGene-Environment InteractionGenome-Wide Association StudyGenotypeHumansMenopauseMiddle AgedOdds RatioOvarian NeoplasmsPolymorphism, Single NucleotidePopulation SurveillanceRiskTelomeraseConceptsOvarian Cancer Association ConsortiumEstrogen-alone therapyOvarian cancer riskEndometrioid ovarian cancerOvarian cancerET usersET useT alleleAssociated with ovarian cancer riskCancer riskLong-term ET usersOvarian cancer susceptibility lociRisk of ovarian cancerSusceptibility variantsMenopausal estrogen therapyCancer susceptibility lociSerous ovarian cancerSplice variantsNon-usersCase-control studyConditional logistic regressionGenome-wide association studiesIncreased risk of diseaseEndometrioid histotypeEstrogen therapy
2014
The impact of exposure-biased sampling designs on detection of gene–environment interactions in case–control studies with potential exposure misclassification
Stenzel S, Ahn J, Boonstra P, Gruber S, Mukherjee B. The impact of exposure-biased sampling designs on detection of gene–environment interactions in case–control studies with potential exposure misclassification. European Journal Of Epidemiology 2014, 30: 413-423. PMID: 24894824, PMCID: PMC4256150, DOI: 10.1007/s10654-014-9908-1.Peer-Reviewed Original ResearchConceptsG-E interactionsExposure informationDetection of gene-environment interactionsPrevalence of exposureGene-environment interactionsSampling designCase-control studyRandom selection of subjectsPerformance of sampling designsCase-onlyExposure prevalenceJoint testExposure misclassificationCase-controlRare exposuresMarginal associationSelection of subjectsType I errorEmpirical simulation studyIdeal sampling schemesJoint effectsPrevalenceRandom selectionG-EMisclassification
2013
Interaction of Fatty Acid Genotype and Diet on Changes in Colonic Fatty Acids in a Mediterranean Diet Intervention Study
Porenta S, Ko Y, Raskin L, Gruber S, Mukherjee B, Baylin A, Ren J, Djuric Z. Interaction of Fatty Acid Genotype and Diet on Changes in Colonic Fatty Acids in a Mediterranean Diet Intervention Study. Cancer Prevention Research 2013, 6: 1212-1221. PMID: 24022589, PMCID: PMC3840911, DOI: 10.1158/1940-6207.capr-13-0131.Peer-Reviewed Original ResearchConceptsFatty acid desaturaseHealthy Eating dietArachidonic acid concentrationIntake of n-3Fatty acid desaturase genotypeIncreased risk of colon cancerN-6 fatty acidsEating dietsIntake of n-6 fatty acidsRisk of colon cancerFatty acid desaturase gene clusterDietary fat intakeColon cancer riskSerum eicosapentaenoic acidDiet intervention studyInteraction of polymorphismsSerum arachidonic acidFatty acid desaturase geneFatty acidsSingle-nucleotide polymorphismsFat intakeN-3N-6Colon cancerAssociated with genotype
2010
HFE H63D Polymorphism as a Modifier of the Effect of Cumulative Lead Exposure on Pulse Pressure: The Normative Aging Study
Zhang A, Park S, Wright R, Weisskopf M, Mukherjee B, Nie H, Sparrow D, Hu H. HFE H63D Polymorphism as a Modifier of the Effect of Cumulative Lead Exposure on Pulse Pressure: The Normative Aging Study. Environmental Health Perspectives 2010, 118: 1261-1266. PMID: 20478760, PMCID: PMC2944087, DOI: 10.1289/ehp.1002251.Peer-Reviewed Original ResearchConceptsCumulative lead exposureHFE H63D polymorphismC282Y variantBone lead levelsAssociated with steeper increasesLinear mixed-effects regression modelsFamily history of hypertensionMixed-effects regression modelsDaily intake of calciumNormative Aging StudyPredictor of cardiovascular diseaseWaist circumferenceIntake of calciumHistory of hypertensionLead exposureH63D polymorphismAlcohol intakeRandom interceptFamily historyMarker of arterial stiffnessTotal caloriesAging StudySteeper increasesLead levelsCardiovascular disease
2009
Risk of Pancreatic Cancer in Families With Lynch Syndrome
Kastrinos F, Mukherjee B, Tayob N, Wang F, Sparr J, Raymond V, Bandipalliam P, Stoffel E, Gruber S, Syngal S. Risk of Pancreatic Cancer in Families With Lynch Syndrome. JAMA 2009, 302: 1790-1795. PMID: 19861671, PMCID: PMC4091624, DOI: 10.1001/jama.2009.1529.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdultAgedAged, 80 and overColorectal Neoplasms, Hereditary NonpolyposisDNA Mismatch RepairDNA Mutational AnalysisDNA-Binding ProteinsFemaleGenotypeGerm-Line MutationHumansMaleMiddle AgedMutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsPancreatic NeoplasmsPedigreePhenotypeProportional Hazards ModelsRegistriesRiskSEER ProgramYoung AdultConceptsRisk of pancreatic cancerMutations of DNA mismatch repairPancreatic cancer riskGermline MMR gene mutationsMMR gene mutationsCancer riskHazard ratio estimatesLynch syndromeInherited cause of colorectal cancerAge-specific cumulative riskCumulative riskCumulative risk of pancreatic cancerFamily history of pancreatic cancerHistory of pancreatic cancerFamilial cancer registryGeneral populationModified segregation analysisCause of colorectal cancerUniversity of Michigan Comprehensive Cancer CenterComprehensive cancer centerGene mutation carriersCases of pancreatic cancerStudy start dateDana-Farber Cancer InstituteExtracolonic tumorsShrinkage estimation for robust and efficient screening of single‐SNP association from case‐control genome‐wide association studies
Luo S, Mukherjee B, Chen J, Chatterjee N. Shrinkage estimation for robust and efficient screening of single‐SNP association from case‐control genome‐wide association studies. Genetic Epidemiology 2009, 33: 740-750. PMID: 19434716, PMCID: PMC3103068, DOI: 10.1002/gepi.20428.Peer-Reviewed Original ResearchMeSH KeywordsCase-Control StudiesComputational BiologyComputer SimulationData Interpretation, StatisticalFalse Positive ReactionsGenetic MarkersGenomeGenome, HumanGenome-Wide Association StudyGenotypeHumansLikelihood FunctionsModels, StatisticalPolymorphism, Single NucleotideReproducibility of ResultsConceptsHardy-Weinberg equilibriumAssociation TestPopulation-based case-control designGenome-wide association scanGenome-wide association studiesSingle-SNP associationsCase-control designCase-control studyAssociation scansAssociation studiesGenetic markersSusceptibility SNPsRecessive effectUnderlying populationAssociationFalse-positive resultsEfficient screeningSNPsRare diseaseShrinkage estimatorsSimulation studyStudyTestTwo-degrees-of-freedomPopulation
2008
Tests for gene‐environment interaction from case‐control data: a novel study of type I error, power and designs
Mukherjee B, Ahn J, Gruber S, Rennert G, Moreno V, Chatterjee N. Tests for gene‐environment interaction from case‐control data: a novel study of type I error, power and designs. Genetic Epidemiology 2008, 32: 615-626. PMID: 18473390, DOI: 10.1002/gepi.20337.Peer-Reviewed Original ResearchConceptsGene-environment independence assumptionCase-control studyGene-environment interactionsGene-environment associationsCase-onlyCase-control study of colorectal cancerDetection of gene-environment interactionsType I errorGene-environment dependenceStudy of colorectal cancerGene-environment independenceEffect of genetic susceptibilityCase-only methodCase-only estimatorCase-control estimatorsCase-control dataGene-environment effectsCase-control designCase-control methodCase-control analysisGlutathione S-transferase M1Empirical-BayesEpidemiological researchCase-controlColorectal cancerInference of the Haplotype Effect in a Matched Case-Control Study Using Unphased Genotype Data
Sinha S, Gruber S, Mukherjee B, Rennert G. Inference of the Haplotype Effect in a Matched Case-Control Study Using Unphased Genotype Data. The International Journal Of Biostatistics 2008, 4: article 6. PMID: 20231916, PMCID: PMC2835450, DOI: 10.2202/1557-4679.1079.Peer-Reviewed Original ResearchConceptsCase-control studyUnphased genotype dataHardy-Weinberg equilibriumLocus-specific genotype dataGenotype dataBeta-Carotene Cancer Prevention StudyCancer Prevention StudyCase-control study designStudy of breast cancer patientsMatched case-control studyCase-control designPhasing of haplotypesDisease risk modelsBreast cancer patientsPrevention StudyHaplotype effectsStudy designGametic phasePolymorphic lociHaplotype frequenciesCancer patientsLociConditional likelihood approachAssociationHaplotypes