2017
Rare‐variant association tests in longitudinal studies, with an application to the Multi‐Ethnic Study of Atherosclerosis (MESA)
He Z, Lee S, Zhang M, Smith J, Guo X, Palmas W, Kardia S, Ionita‐Laza I, Mukherjee B. Rare‐variant association tests in longitudinal studies, with an application to the Multi‐Ethnic Study of Atherosclerosis (MESA). Genetic Epidemiology 2017, 41: 801-810. PMID: 29076270, PMCID: PMC5696115, DOI: 10.1002/gepi.22081.Peer-Reviewed Original ResearchMeSH KeywordsAtherosclerosisBlood PressureDNA-Binding ProteinsEthnicityGenome-Wide Association StudyHumansModels, GeneticPolymorphism, Single NucleotideConceptsMulti-Ethnic Study of AtherosclerosisMulti-Ethnic StudyStudy of AtherosclerosisType I error rateRare-variant association testsRare variantsGene-based association testsRare-variant associationsAssociation TestLongitudinal outcomesLongitudinal studyExome sequencing dataMeasurement of blood pressureGenomic regionsSequence dataTrait heritabilitySequencing studiesMeasured outcomesGenetic variantsVariant analysisModerate sample sizesIndividual variantsRobust to misspecificationWithin-subject correlationStatistical power
2011
MRE11 Deficiency Increases Sensitivity to Poly(ADP-ribose) Polymerase Inhibition in Microsatellite Unstable Colorectal Cancers
Vilar E, Bartnik C, Stenzel S, Raskin L, Ahn J, Moreno V, Mukherjee B, Iniesta M, Morgan M, Rennert G, Gruber S. MRE11 Deficiency Increases Sensitivity to Poly(ADP-ribose) Polymerase Inhibition in Microsatellite Unstable Colorectal Cancers. Cancer Research 2011, 71: 2632-2642. PMID: 21300766, PMCID: PMC3407272, DOI: 10.1158/0008-5472.can-10-1120.Peer-Reviewed Original ResearchMeSH KeywordsAcid Anhydride HydrolasesBenzimidazolesCell Line, TumorColorectal NeoplasmsDNA DamageDNA Repair EnzymesDNA-Binding ProteinsEnzyme InhibitorsGene Expression ProfilingGene Expression Regulation, NeoplasticGene Knockdown TechniquesHumansMicrosatellite InstabilityMRE11 Homologue ProteinMutationPoly (ADP-Ribose) Polymerase-1Poly(ADP-ribose) Polymerase InhibitorsPoly(ADP-ribose) PolymerasesRad51 RecombinaseRecombination, GeneticConceptsPoly(ADP-riboseDouble strand breaksColorectal cancer cell linesPARP-1 inhibitionCell linesPARP-1ABT-888PARP-1 inhibitorsColorectal cancerPoly(ADP-ribose) polymeraseRepetitive DNA sequencesWild-type cell linesMSI cell linesMicrosatellite instabilityConcept of synthetic lethalityMicrosatellite instability colorectal tumorsSensitivity to poly(ADP-riboseMutant Mre11Short hairpin RNAPoly(ADP-ribose) polymerase inhibitionDNA sequencesDNA mismatch repairCell line modelsSecondary to mutationsSynthetic lethality
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