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, 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
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