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
2011
High 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 protein
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