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 ResearchMeSH KeywordsAdultAgedAged, 80 and overColorectal Neoplasms, Hereditary NonpolyposisDNA Mismatch RepairGenetic Predisposition to DiseaseHeterozygoteHumansIncidenceMaleMiddle AgedOdds RatioPenetranceProstatic NeoplasmsRiskUnited StatesConceptsLynch 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
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 diagnosticsHigh 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
MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families
Borràs E, Pineda M, Blanco I, Jewett E, Wang F, Teulé À, Caldés T, Urioste M, Martínez-Bouzas C, Brunet J, Balmaña J, Torres A, Ramón y Cajal T, Sanz J, Pérez-Cabornero L, Castellví-Bel S, Alonso Á, Lanas Á, González S, Moreno V, Gruber S, Rosenberg N, Mukherjee B, Lázaro C, Capellá G. MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families. Cancer Research 2010, 70: 7379-7391. PMID: 20858721, DOI: 10.1158/0008-5472.can-10-0570.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdultAge FactorsAgedBase SequenceColorectal Neoplasms, Hereditary NonpolyposisFamily HealthFemaleGenetic Predisposition to DiseaseGerm-Line MutationHaplotypesHCT116 CellsHumansMaleMiddle AgedMolecular Sequence DataMutL Protein Homolog 1Nuclear ProteinsPenetranceSpainYoung AdultConceptsLynch syndrome familiesMLH1 c.Molecular diagnosis of Lynch syndromeSyndrome familiesDiagnosis of Lynch syndromeFounder originModerate penetranceModified segregation analysisDNA repair gene MLH1Lynch syndromeMLH1 mutationsGenes MLH1Founder effectMRNA processingLoss of expressionFounder mutationEstimated penetranceFamily historySegregation analysisHaplotype analysisIdentified mutationsCarrier familyPathogenic mutationsGenetic counselingMLH1 proteinA 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 ResearchMeSH KeywordsAnticipation, GeneticColorectal Neoplasms, Hereditary NonpolyposisComputer SimulationDatabases, GeneticDNA Mismatch RepairFemaleHumansMaleModels, GeneticModels, StatisticalMolecular EpidemiologyMutationPedigreeProportional Hazards ModelsRegression AnalysisConceptsAffected 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
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 tumorsCalculation 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
2008
Anticipation in Lynch Syndrome: Still Waiting for the Answer
Gruber S, Mukherjee B. Anticipation in Lynch Syndrome: Still Waiting for the Answer. Journal Of Clinical Oncology 2008, 27: 326-327. PMID: 19075261, DOI: 10.1200/jco.2008.19.1445.Peer-Reviewed Original ResearchAdenoma-infiltrating Lymphocytes (AILs) are a Potential Marker of Hereditary Nonpolyposis Colorectal Cancer
Polydorides A, Mukherjee B, Gruber S, McKenna B, Appelman H, Greenson J. Adenoma-infiltrating Lymphocytes (AILs) are a Potential Marker of Hereditary Nonpolyposis Colorectal Cancer. The American Journal Of Surgical Pathology 2008, 32: 1661-1666. PMID: 18753941, PMCID: PMC3500084, DOI: 10.1097/pas.0b013e31816ffa80.Peer-Reviewed Original ResearchMeSH KeywordsAdenomaAdultAgedBiomarkers, TumorColorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisFemaleHumansLymphocytes, Tumor-InfiltratingMaleMiddle AgedConceptsHereditary nonpolyposis colorectal cancer syndromeColorectal adenomasControl adenomasHereditary nonpolyposis colorectal cancer patientsColorectal cancer syndromePresence of high-grade dysplasiaTumor-infiltrating lymphocytesHigh-grade dysplasiaPresence of necrosisNumbers of mitotic figuresColorectal cancer patientsHost immune responseVillous componentCancer syndromesLack of dirty necrosisSerrated architectureMicrosatellite-unstable colorectal cancersPatient ageGeneral populationPoor differentiationDirty necrosisInexpensive markerHistological featuresColorectal cancerAdenomas