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