Featured Publications
Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative
Fritsche L, Gruber S, Wu Z, Schmidt E, Zawistowski M, Moser S, Blanc V, Brummett C, Kheterpal S, Abecasis G, Mukherjee B. Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative. American Journal Of Human Genetics 2018, 102: 1048-1061. PMID: 29779563, PMCID: PMC5992124, DOI: 10.1016/j.ajhg.2018.04.001.Peer-Reviewed Original ResearchConceptsPolygenic risk scoresElectronic health recordsAssociations of polygenic risk scoresPhenome-wide significant associationsPolygenic risk score associationsLongitudinal biorepository effortNon-cancer diagnosesPatients' electronic health recordsPhenome-wide association studyAnalysis of temporal orderMichigan Genomics InitiativeRisk scoreAssociated with multiple phenotypesFemale breast cancerNHGRI-EBI CatalogRisk profileGenetic risk profilesMeasures of genomic variationCancer traitsCase-control studyPheWAS analysisHealth recordsHealth systemMichigan MedicineCancer diagnosis
2023
COVID-19 outcomes by cancer status, site, treatment, and vaccination
Salvatore M, Hu M, Beesley L, Mondul A, Pearce C, Friese C, Fritsche L, Mukherjee B. COVID-19 outcomes by cancer status, site, treatment, and vaccination. Cancer Epidemiology Biomarkers & Prevention 2023, 32: 748-759. PMID: 36626383, DOI: 10.1158/1055-9965.epi-22-0607.Peer-Reviewed Original ResearchConceptsCOVID-19 outcomesCancer statusCancer diagnosisAssociated with higher ratesElectronic health record dataHealth record dataColorectal cancerIncreased riskAcademic medical centerKidney cancerCancer-free patientsIntensive care unit admissionCancer sitesAssociated with lower ratesChemotherapy receiptHigher ratesCOVID-19 precautionsRecord dataCOVID-19Logistic regressionMedical CenterUnit admissionRetrospective cohortVaccination statusLung cancer
2022
Case studies in bias reduction and inference for electronic health record data with selection bias and phenotype misclassification
Beesley L, Mukherjee B. Case studies in bias reduction and inference for electronic health record data with selection bias and phenotype misclassification. Statistics In Medicine 2022, 41: 5501-5516. PMID: 36131394, PMCID: PMC9826451, DOI: 10.1002/sim.9579.Peer-Reviewed Original ResearchConceptsElectronic health recordsElectronic health record data analysisElectronic health record settingsLeverages external data sourcesElectronic health record dataPopulation-based data sourcesEHR-based researchLongitudinal health informationUniversity of Michigan Health SystemHealth record dataSelection biasPopulation-based researchMichigan Health SystemMultiple sources of biasFactors related to selectionPatient-level dataHealth recordsHealth systemHealth informationPhenotype misclassificationSummary estimatesPhenotyping errorsCancer diagnosisSources of biasRecord data
2020
Phenotype risk scores (PheRS) for pancreatic cancer using time-stamped electronic health record data: Discovery and validation in two large biobanks
Salvatore M, Beesley L, Fritsche L, Hanauer D, Shi X, Mondul A, Pearce C, Mukherjee B. Phenotype risk scores (PheRS) for pancreatic cancer using time-stamped electronic health record data: Discovery and validation in two large biobanks. Journal Of Biomedical Informatics 2020, 113: 103652. PMID: 33279681, PMCID: PMC7855433, DOI: 10.1016/j.jbi.2020.103652.Peer-Reviewed Original ResearchConceptsElectronic health recordsPolygenic risk scoresElectronic health record dataMichigan Genomics InitiativePhenotype risk scoreHigh-risk individualsPancreatic cancer diagnosisBody mass indexRisk scoreCancer diagnosisMedical phenomeUK Biobank (UKBHealth record dataSource of patient informationRisk predictionHypothesis-generating associationsDisease risk predictionHealth recordsUnadjusted associationsDrinking statusSmoking statusEpidemiological covariatesUKBPatient informationMultivariate associations
2013
Elevated Risk of Prostate Cancer Among Men With Lynch Syndrome
Raymond V, Mukherjee B, Wang F, Huang S, Stoffel E, Kastrinos F, Syngal S, Cooney K, Gruber S. Elevated Risk of Prostate Cancer Among Men With Lynch Syndrome. Journal Of Clinical Oncology 2013, 31: 1713-1718. PMID: 23530095, PMCID: PMC3641694, DOI: 10.1200/jco.2012.44.1238.Peer-Reviewed Original ResearchConceptsLynch syndromeCumulative lifetime riskRisk of prostate cancerAge-specific cumulative riskLifetime risk of prostate cancerFamilial cancer registryGeneral populationHazard ratioCumulative risk of prostate cancerModified segregation analysisProstate cancerFourth-degree relativesCumulative riskProstate cancer riskLS familiesCancer RegistryCancer riskLifetime riskCases of prostate cancerPopulation riskMismatch repair-deficient phenotypeWald-type CICancer diagnosisMutation carriersElevated risk