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
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
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 surveillanceGene Expression Patterns in Mismatch Repair-Deficient Colorectal Cancers Highlight the Potential Therapeutic Role of Inhibitors of the Phosphatidylinositol 3-Kinase-AKT-Mammalian Target of Rapamycin Pathway
Vilar E, Mukherjee B, Kuick R, Raskin L, Misek D, Taylor J, Giordano T, Hanash S, Fearon E, Rennert G, Gruber S. Gene Expression Patterns in Mismatch Repair-Deficient Colorectal Cancers Highlight the Potential Therapeutic Role of Inhibitors of the Phosphatidylinositol 3-Kinase-AKT-Mammalian Target of Rapamycin Pathway. Clinical Cancer Research 2009, 15: 2829-2839. PMID: 19351759, PMCID: PMC3425357, DOI: 10.1158/1078-0432.ccr-08-2432.Peer-Reviewed Original ResearchMeSH KeywordsAlgorithmsAntineoplastic AgentsBenzoquinonesCell CycleCell Line, TumorChromonesColorectal NeoplasmsComputational BiologyDNA Mismatch RepairDrug Evaluation, PreclinicalEnzyme InhibitorsGene Expression ProfilingHumansHydroxamic AcidsImmunosuppressive AgentsLactams, MacrocyclicMicrosatellite InstabilityMorpholinesPhosphoinositide-3 Kinase InhibitorsProto-Oncogene Proteins c-aktSirolimusConceptsGene expression informationColorectal cancerCell linesExpression informationGene expression dataSystems biology toolsLY-294002Gene expression patternsLow molecular weight compoundsPhosphatidylinositol 3-kinase-Akt-mammalian target of rapamycin pathwayMutant cellsBioinformatics approachTarget of rapamycin pathwayExpression dataMismatch repair-deficient colorectal cancerMolecular weight compoundsGroup of patientsCell cycleBiology toolsApoptosis effectExpression patternsPotential therapeutic roleTrichostatin AMSI-HWeight compounds