2011
Rare variants in the ATMgene and risk of breast cancer
Goldgar D, Healey S, Dowty J, Da Silva L, Chen X, Spurdle A, Terry M, Daly M, Buys S, Southey M, Andrulis I, John E, BCFR, kConFab, Khanna K, Hopper J, Oefner P, Lakhani S, Chenevix-Trench G. Rare variants in the ATMgene and risk of breast cancer. Breast Cancer Research 2011, 13: r73. PMID: 21787400, PMCID: PMC3236337, DOI: 10.1186/bcr2919.Peer-Reviewed Original ResearchMeSH KeywordsAtaxia Telangiectasia Mutated ProteinsBreast NeoplasmsCase-Control StudiesCell Cycle ProteinsDNA-Binding ProteinsFemaleGenetic Predisposition to DiseaseGenetic VariationHumansLogistic ModelsLoss of HeterozygosityMiddle AgedMutation, MissenseProtein Serine-Threonine KinasesTumor Suppressor ProteinsWhite PeopleConceptsRisk of breast cancerRare sequence variantsLoss of heterozygositySequence variantsIncreased risk of breast cancerBreast cancerAssociated with increased breast cancerATM variantsCase-control family studyHazard ratioModified segregation analysisCases of breast cancerRisk of BCRare ATM variantsIncreased riskConditional logistic regressionATM geneAnalysis of loss of heterozygosityCellular response to DNA double-strand breaksResponse to DNA double-strand breaksFamily-based analysisCase-control analysisDNA damage-response pathwayATM c.Magnitude of risk
2009
Modification of Ovarian Cancer Risk by BRCA1/2-Interacting Genes in a Multicenter Cohort of BRCA1/2 Mutation Carriers
Rebbeck T, Mitra N, Domchek S, Wan F, Chuai S, Friebel T, Panossian S, Spurdle A, Chenevix-Trench G, Singer C, Pfeiler G, Neuhausen S, Lynch H, Garber J, Weitzel J, Isaacs C, Couch F, Narod S, Rubinstein W, Tomlinson G, Ganz P, Olopade O, Tung N, Blum J, Greenberg R, Nathanson K, Daly M. Modification of Ovarian Cancer Risk by BRCA1/2-Interacting Genes in a Multicenter Cohort of BRCA1/2 Mutation Carriers. Cancer Research 2009, 69: 5801-5810. PMID: 19584272, PMCID: PMC2751603, DOI: 10.1158/0008-5472.can-09-0625.Peer-Reviewed Original ResearchMeSH KeywordsAcid Anhydride HydrolasesAdultAgedAged, 80 and overAtaxia Telangiectasia Mutated ProteinsBRCA1 ProteinBRCA2 ProteinCarrier ProteinsCell Cycle ProteinsDNA Repair EnzymesDNA-Binding ProteinsEndodeoxyribonucleasesFanconi Anemia Complementation Group ProteinsFemaleGene FrequencyGenotypeHaplotypesHeterozygoteHumansMiddle AgedMRE11 Homologue ProteinMutationNuclear ProteinsOvarian NeoplasmsPolymorphism, Single NucleotideProtein Serine-Threonine KinasesRad51 RecombinaseRisk FactorsRNA HelicasesTumor Suppressor ProteinsUbiquitin-Protein LigasesConceptsAssociated with ovarian cancer riskOvarian cancer riskBRCA1/2 mutation carriersCancer riskMutation carriersElevated ovarian cancer riskOvarian cancer risk assessmentBRCA1/2 mutationsInherited BRCA1/2 mutationsBRCA2 mutation carriersCancer risk assessmentStatistically significant associationBRCA2 carriersBRCA1 carriersEvaluated haplotypesKnowledge of factorsHaplotype associationSignificant associationOvarian cancerRare haplotypesMulticenter cohortBRCA2BRIP1BRCA1/2Haplotypes