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
2008
Inference of the Haplotype Effect in a Matched Case-Control Study Using Unphased Genotype Data
Sinha S, Gruber S, Mukherjee B, Rennert G. Inference of the Haplotype Effect in a Matched Case-Control Study Using Unphased Genotype Data. The International Journal Of Biostatistics 2008, 4: article 6. PMID: 20231916, PMCID: PMC2835450, DOI: 10.2202/1557-4679.1079.Peer-Reviewed Original ResearchConceptsCase-control studyUnphased genotype dataHardy-Weinberg equilibriumLocus-specific genotype dataGenotype dataBeta-Carotene Cancer Prevention StudyCancer Prevention StudyCase-control study designStudy of breast cancer patientsMatched case-control studyCase-control designPhasing of haplotypesDisease risk modelsBreast cancer patientsPrevention StudyHaplotype effectsStudy designGametic phasePolymorphic lociHaplotype frequenciesCancer patientsLociConditional likelihood approachAssociationHaplotypes