2011
Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes
Akbari MR, Zhang S, Fan I, Royer R, Li S, Risch H, McLaughlin J, Rosen B, Sun P, Narod SA. Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes. Journal Of Medical Genetics 2011, 48: 783. PMID: 21965345, DOI: 10.1136/jmedgenet-2011-100305.Peer-Reviewed Original ResearchConceptsFirst-degree relativesFemale first-degree relativesRelatives of patientsOvarian cancerCumulative riskPathogenic mutationsUnclassified variantsRisk of cancerHistorical cohortBRCA2 mutationsClinical impactHigh riskBRCA2 genesCancerUnknown significancePatientsMissense variantsFunctional effectsWomenRiskBRCA1PenetranceMutationsRelativesCohort
2000
BRCA1 and BRCA2 Mutation Analysis of 208 Ashkenazi Jewish Women with Ovarian Cancer
Moslehi R, Chu W, Karlan B, Fishman D, Risch H, Fields A, Smotkin D, Ben-David Y, Rosenblatt J, Russo D, Schwartz P, Tung N, Warner E, Rosen B, Friedman J, Brunet J, Narod S. BRCA1 and BRCA2 Mutation Analysis of 208 Ashkenazi Jewish Women with Ovarian Cancer. American Journal Of Human Genetics 2000, 66: 1259-1272. PMID: 10739756, PMCID: PMC1288193, DOI: 10.1086/302853.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overBRCA2 ProteinBreast NeoplasmsDNA Mutational AnalysisFemaleFounder EffectGene FrequencyGenes, BRCA1Genetic Predisposition to DiseaseHumansIncidenceIsraelJewsMaleMiddle AgedMutationNeoplasm ProteinsNeoplasm StagingNorth AmericaOvarian NeoplasmsPedigreeTranscription FactorsConceptsFemale first-degree relativesAge 75 yearsOvarian cancerFirst-degree relativesBreast cancerAshkenazi Jewish womenHereditary breast-ovarian cancer syndromeBreast-ovarian cancer syndromeObserved excess riskFounder mutationFamilial cancer riskDetailed family historyBRCA2 mutation analysisCumulative incidenceExcess riskHealthy controlsRelative riskFamily historyMedical CenterCancer riskCancer syndromesAshkenazi Jewish populationControl populationProtein truncation testBRCA2 genes
1994
Hereditary and familial ovarian cancer in southern ontario
Narod S, Madlensky L, Tonin P, Bradley L, Rosen B, Cole D, Risch H. Hereditary and familial ovarian cancer in southern ontario. Cancer 1994, 74: 2341-2346. PMID: 7922985, DOI: 10.1002/1097-0142(19941015)74:8<2341::aid-cncr2820740819>3.0.co;2-z.Peer-Reviewed Original ResearchConceptsOvarian cancerBreast cancerBreast-ovarian cancer syndromeFirst-degree female relativesHereditary breast-ovarian cancerHereditary ovarian cancerPositive family historyCases of cancerPoint nine percentFamilial ovarian cancerBreast-ovarian cancerCommon hereditary formOvarian cancer familiesIncident casesCancer casesFamily historyUnselected casesCancer susceptibility genesHigh riskCancer syndromesHereditary formsCancerTelephone interviewsCancer familiesSimple questionnaire