2016
Frequency of germline PALB2 mutations among women with epithelial ovarian cancer
Kotsopoulos J, Sopik V, Rosen B, Fan I, McLaughlin JR, Risch H, Sun P, Narod SA, Akbari MR. Frequency of germline PALB2 mutations among women with epithelial ovarian cancer. Familial Cancer 2016, 16: 29-34. PMID: 27631815, DOI: 10.1007/s10689-016-9919-z.Peer-Reviewed Original ResearchConceptsGermline PALB2 mutationsPALB2 mutationsOvarian cancerEpithelial ovarian cancer patientsYear of diagnosisEpithelial ovarian cancerOvarian cancer patientsOvarian cancer riskMean ageCancer patientsControl subjectsNational HeartMedical recordsClinical recommendationsSurvival statusCancer riskClinical informationUnselected populationClinical relevanceBRCA2 genesGermline mutationsCancerFurther studiesPatientsPrevalence
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
2007
Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case-control study
McLaughlin JR, Risch HA, Lubinski J, Moller P, Ghadirian P, Lynch H, Karlan B, Fishman D, Rosen B, Neuhausen SL, Offit K, Kauff N, Domchek S, Tung N, Friedman E, Foulkes W, Sun P, Narod SA, Group O. Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case-control study. The Lancet Oncology 2007, 8: 26-34. PMID: 17196508, DOI: 10.1016/s1470-2045(06)70983-4.Peer-Reviewed Original ResearchConceptsInvasive ovarian cancerCarriers of BRCA1Case-control studyOral contraceptivesOvarian cancerBRCA2 mutationsTubal ligationRisk factorsBRCA1 mutationsReproductive risk factorsPopulation-based studyOvarian cancer riskPossible adverse effectsYear of birthInternational registryMenstrual cycleOdds ratioBreast cancerMutation carriersReproductive historyContraceptivesBRCA2 genesCancerAdverse effectsWomen
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
1998
Oral Contraceptives and the Risk of Hereditary Ovarian Cancer
Narod S, Risch H, Moslehi R, Dørum A, Neuhausen S, Olsson H, Provencher D, Radice P, Evans G, Bishop S, Brunet J, Ponder B, Klijn J. Oral Contraceptives and the Risk of Hereditary Ovarian Cancer. New England Journal Of Medicine 1998, 339: 424-428. PMID: 9700175, DOI: 10.1056/nejm199808133390702.Peer-Reviewed Original ResearchConceptsOral contraceptive useHereditary ovarian cancerOvarian cancerOral contraceptivesControl womenBRCA2 genesPathogenic mutationsCase-control studyHigh lifetime riskDuration of useYear of birthLifetime riskOdds ratioBRCA2 mutationsLifetime historyHereditary formsCancerBRCA1 mutationsContraceptivesWomenPatientsRiskMore yearsPast useBRCA1