2013
Investigating parent of origin effects (POE) and anticipation in Irish Lynch syndrome kindreds.
Farrell M, Hughes D, Schmid J, Boonstra P, Mukherjee B, Walshe M, Mac Mathuna P, Green A, Gallagher D. Investigating parent of origin effects (POE) and anticipation in Irish Lynch syndrome kindreds. Journal Of Clinical Oncology 2013, 31: 1542-1542. DOI: 10.1200/jco.2013.31.15_suppl.1542.Peer-Reviewed Original ResearchAffected parent-child pairsParent-of-origin effectsParent-child pairsLS familiesLynch syndromePaired t-testInvestigate parent-of-origin effectsCancer genetics centresLynch syndrome kindredHospital-based registryT-testOffspring of affected mothersRisk of diseaseGenetic centresEvidence of anticipationInvestigate parentGenetic anticipationDisease allelesAffected fatherStatistical significanceEarly onsetMothersSeverity of diseaseFamilyCancerInvestigating parent of origin effects (POE) and anticipation in Irish Lynch syndrome kindreds.
Farrell M, Hughes D, Schmid J, Boonstra P, Mukherjee B, Walshe M, Mac Mathuna P, Gallagher D. Investigating parent of origin effects (POE) and anticipation in Irish Lynch syndrome kindreds. Journal Of Clinical Oncology 2013, 31: 431-431. DOI: 10.1200/jco.2013.31.4_suppl.431.Peer-Reviewed Original ResearchAffected parent-child pairsParent-of-origin effectsParent-child pairsInvestigate parent-of-origin effectsLynch syndrome familiesMMR mutation carriersLynch syndrome kindredGenetic anticipationHospital-based registryOffspring of affected mothersLS familiesLynch syndromePaired t-testRisk of diseaseSyndrome familiesMutation carriersInvestigate parentT-testDisease allelesAffected fatherStatistical significanceKindredMothersSeverity of diseaseFamily
2012
Investigating parent of origin effects (POE) and anticipation in Irish Lynch Syndrome kindreds.
Farrell M, Hughes D, Schmid J, Boonstra P, Mukherjee B, Walshe M, Mac Mathuna P, Gallagher D. Investigating parent of origin effects (POE) and anticipation in Irish Lynch Syndrome kindreds. Journal Of Clinical Oncology 2012, 30: e12031-e12031. DOI: 10.1200/jco.2012.30.15_suppl.e12031.Peer-Reviewed Original ResearchAffected parent-child pairsParent-of-origin effectsParent-child pairsInvestigate parent-of-origin effectsLynch syndrome familiesGermline MMR mutationsLynch syndrome kindredT-testMMR mutationsPaired t-testRisk of diseaseSyndrome familiesInvestigate parentGenetic anticipationParental ageP-valueGroup comparisonsDisease allelesOffspring ageAgeDynamic mutationSeverity of diseaseKindredIncreasing severityFamily
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 diagnostics
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