Featured Publications
Risk 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
2018
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology
Nielsen J, Thorolfsdottir R, Fritsche L, Zhou W, Skov M, Graham S, Herron T, McCarthy S, Schmidt E, Sveinbjornsson G, Surakka I, Mathis M, Yamazaki M, Crawford R, Gabrielsen M, Skogholt A, Holmen O, Lin M, Wolford B, Dey R, Dalen H, Sulem P, Chung J, Backman J, Arnar D, Thorsteinsdottir U, Baras A, O’Dushlaine C, Holst A, Wen X, Hornsby W, Dewey F, Boehnke M, Kheterpal S, Mukherjee B, Lee S, Kang H, Holm H, Kitzman J, Shavit J, Jalife J, Brummett C, Teslovich T, Carey D, Gudbjartsson D, Stefansson K, Abecasis G, Hveem K, Willer C. Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. Nature Genetics 2018, 50: 1234-1239. PMID: 30061737, PMCID: PMC6530775, DOI: 10.1038/s41588-018-0171-3.Peer-Reviewed Original ResearchConceptsNear genesRisk variantsGenome-wide association studiesFunctional candidate genesIndependent risk variantsIdentified risk variantsFunctional enrichment analysisDeleterious mutationsAssociation studiesCandidate genesAtrial fibrillationGenetic variationGenomic discoveriesStriated muscle functionEnrichment analysisNKX2-5Fetal heart developmentResponse to stressGenesCardiac structural remodelingAtrial fibrillation casesHeart developmentHeart defectsAdult heartCardiac arrhythmias
2011
Bayesian Modeling for Genetic Anticipation in Presence of Mutational Heterogeneity: A Case Study in Lynch Syndrome
Boonstra P, Mukherjee B, Taylor J, Nilbert M, Moreno V, Gruber S. Bayesian Modeling for Genetic Anticipation in Presence of Mutational Heterogeneity: A Case Study in Lynch Syndrome. Biometrics 2011, 67: 1627-1637. PMID: 21627626, PMCID: PMC3176998, DOI: 10.1111/j.1541-0420.2011.01607.x.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAge of OnsetAgedAnticipation, GeneticBayes TheoremChildChild, PreschoolColorectal Neoplasms, Hereditary NonpolyposisComputer SimulationDenmarkFemaleHumansInfantInfant, NewbornMaleMiddle AgedModels, GeneticModels, StatisticalMutationPolymorphism, Single NucleotidePrevalenceRisk AssessmentRisk FactorsYoung AdultConceptsLynch syndromeBirth cohortGenetic anticipationHereditary nonpolyposis colorectal cancerCancer registry dataNonpolyposis colorectal cancerDanish Cancer RegisterGenetic counseling clinicAge-specific incidenceHigh-risk familiesRandom-effects modelCancer RegisterRegistry dataCounseling clinicMismatch repairRandom effectsSecular trendsMedical practiceColorectal cancerSurvival analysis methodsEffects modelConfounding effectsLynchFlexible random effects modelModel fit diagnosticsMRE11 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 lethalityHigh Risk of Colorectal and Endometrial Cancer in Ashkenazi Families With the MSH2 A636P Founder Mutation
Mukherjee B, Rennert G, Ahn J, Dishon S, Lejbkowicz F, Rennert H, Shiovitz S, Moreno V, Gruber S. High Risk of Colorectal and Endometrial Cancer in Ashkenazi Families With the MSH2 A636P Founder Mutation. Gastroenterology 2011, 140: 1919-1926. PMID: 21419771, PMCID: PMC4835182, DOI: 10.1053/j.gastro.2011.02.071.Peer-Reviewed Original ResearchMeSH KeywordsAdultAge FactorsAgedAged, 80 and overCase-Control StudiesColorectal Neoplasms, Hereditary NonpolyposisEndometrial NeoplasmsFemaleFounder EffectGene FrequencyGenetic Predisposition to DiseaseGenetic TestingHeredityHumansIsraelJewsLikelihood FunctionsMaleMass ScreeningMiddle AgedMutationMutS Homolog 2 ProteinPedigreePenetrancePhenotypeProportional Hazards ModelsRegistriesRisk AssessmentRisk FactorsSex FactorsYoung AdultConceptsRisk of colorectal cancerHazard ratioColorectal cancerCumulative riskPopulation-basedLifetime risk of colorectal cancerCumulative risk of colorectal cancerEstimates of colorectal cancerAge-specific cumulative riskHigh risk of colorectalCases of colorectal cancerModified segregation analysisRisk of colorectalClinical genetics servicesClinic-based sampleEndometrial cancerRisk of ECCase-control studyGenetic servicesLynch syndromeCancer screeningEC riskLifetime riskAshkenazi familiesEstimated penetrance
2010
A review of statistical methods for testing genetic anticipation: looking for an answer in Lynch syndrome
Boonstra P, Gruber S, Raymond V, Huang S, Timshel S, Nilbert M, Mukherjee B. A review of statistical methods for testing genetic anticipation: looking for an answer in Lynch syndrome. Genetic Epidemiology 2010, 34: 756-768. PMID: 20878717, PMCID: PMC3894615, DOI: 10.1002/gepi.20534.Peer-Reviewed Original ResearchConceptsAffected parent-child pairsDanish HNPCC registerParent-child pairsLynch syndromePaired t-testGenetic anticipationLynch syndrome cohortCancer genetics clinicsT-testEvidence of genetic anticipationFamily membersClinic-based populationRandom-effects modelGenetics clinicAffected pairsMismatch repairUnaffected family membersFamilial correlationsAffected parentType I errorSyndrome cohortRegression modelsPedigree dataDecreasing ageAscertainment
2009
Calculation of Risk of Colorectal and Endometrial Cancer Among Patients With Lynch Syndrome
Stoffel E, Mukherjee B, Raymond V, Tayob N, Kastrinos F, Sparr J, Wang F, Bandipalliam P, Syngal S, Gruber S. Calculation of Risk of Colorectal and Endometrial Cancer Among Patients With Lynch Syndrome. Gastroenterology 2009, 137: 1621-1627. PMID: 19622357, PMCID: PMC2767441, DOI: 10.1053/j.gastro.2009.07.039.Peer-Reviewed Original ResearchConceptsRisk of colorectal cancerCumulative risk of colorectal cancerHazard ratioColorectal cancerCumulative riskLifetime risk of colorectal cancerMismatch repair gene mutation carriersEstimates of colorectal cancerAge-specific cumulative riskMismatch repair gene mutationsEstimates of lifetime riskCancer genetics clinicsCases of colorectal cancerModified segregation analysisRisk of colorectalColorectal cancer riskHereditary colorectal cancerEndometrial cancerGene mutation carriersRepair gene mutationsRisk of ECOverestimation of penetrationFirst-degree relativesLynch syndromeCancer surveillance