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 ResearchMeSH KeywordsBiological Specimen BanksElectronic Health RecordsGenome-Wide Association StudyHumansMichiganPancreatic NeoplasmsPhenotypeRisk FactorsConceptsElectronic 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
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 tumors