2015
Ten-year survival after epithelial ovarian cancer is not associated with BRCA mutation status
Kotsopoulos J, Rosen B, Fan I, Moody J, McLaughlin JR, Risch H, May T, Sun P, Narod SA. Ten-year survival after epithelial ovarian cancer is not associated with BRCA mutation status. Gynecologic Oncology 2015, 140: 42-47. PMID: 26556769, DOI: 10.1016/j.ygyno.2015.11.009.Peer-Reviewed Original ResearchConceptsBRCA mutation statusLong-term survivalEpithelial ovarian cancerResidual diseaseOvarian cancerMutation carriersMutation statusOntario Cancer RegistryTreatment-related factorsTen-year survivalBRCA2 mutation carriersBRCA1 mutation carriersMajority of womenInitial survival advantageActuarial survivalMortality benefitSerous cancerCancer RegistryBRCA carriersBRCA mutationsMedical recordsBRCA2 mutationsSurvival statusSurvival advantageClinical information
2014
Risk Factors for Ovarian Cancers With and Without Microsatellite Instability
Segev Y, Pal T, Rosen B, McLaughlin JR, Sellers TA, Risch HA, Zhang S, Sun P, Narod SA, Schildkraut J. Risk Factors for Ovarian Cancers With and Without Microsatellite Instability. International Journal Of Gynecological Cancer 2014, 24: 664-669. PMID: 24755492, DOI: 10.1097/igc.0000000000000134.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinoma, Clear CellAdenocarcinoma, MucinousBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsCanadaCystadenocarcinoma, SerousDNA, NeoplasmEndometrial NeoplasmsFemaleGenetic Predisposition to DiseaseHumansMicrosatellite InstabilityMicrosatellite RepeatsMiddle AgedMutationNeoplasm StagingOvarian NeoplasmsPrognosisRisk FactorsSyndromeUnited StatesConceptsOvarian cancer patientsOral contraceptive useBody mass indexEpithelial ovarian cancerOvarian cancerCancer patientsHistologic subtypeMass indexTubal ligationRisk factorsBRCA2 mutationsContraceptive usePast oral contraceptive usePrimary epithelial ovarian cancerOvarian cancer risk factorsBRCA1 mutationsNational Cancer Institute criteriaProtective factorsSpecific histologic subtypesCancer risk factorsPopulation-based studyMSI-high cancersCases of cancerMSI-high tumorsBRCA2 mutation status
2013
Preventing ovarian cancer through genetic testing: a population‐based study
Finch A, Bacopulos S, Rosen B, Fan I, Bradley L, Risch H, McLaughlin JR, Lerner‐Ellis J, Narod SA. Preventing ovarian cancer through genetic testing: a population‐based study. Clinical Genetics 2013, 86: 496-499. PMID: 24199689, DOI: 10.1111/cge.12313.Peer-Reviewed Original ResearchConceptsOvarian cancerGenetic testingGenetic testing criteriaInvasive ovarian cancerPopulation-based studyOvarian cancer patientsBRCA2 gene mutationsGenetic test resultsDevelopment of cancerCancer patientsBRCA2 mutationsMutation carriersUnselected casesEligibility criteriaCancerPatientsGene mutationsProvince of OntarioWomenPotential utilityPopulation levelBRCA1MutationsLong-Term Ovarian Cancer Survival Associated With Mutation in BRCA1 or BRCA2
McLaughlin JR, Rosen B, Moody J, Pal T, Fan I, Shaw PA, Risch HA, Sellers TA, Sun P, Narod SA. Long-Term Ovarian Cancer Survival Associated With Mutation in BRCA1 or BRCA2. Journal Of The National Cancer Institute 2013, 105: 141-148. PMID: 23257159, PMCID: PMC3611851, DOI: 10.1093/jnci/djs494.Peer-Reviewed Original ResearchConceptsInvasive ovarian cancerOvarian cancerBRCA2 mutationsLong-term survival benefitOvarian cancer-specific survivalCancer-specific survivalOvarian cancer survivalSerous ovarian cancerShort-term survival advantageBRCA1 mutation carriersLong-term survivalHazard ratioSurvival benefitBetter prognosisUnselected womenBRCA2 carriersCancer survivalMutation carriersSurvival advantageSurvival analysisCancerDiagnosisTime pointsWomenSurvival
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 effectsWomenRiskBRCA1PenetranceMutationsRelativesCohortFrequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer
Zhang S, Royer R, Li S, McLaughlin JR, Rosen B, Risch HA, Fan I, Bradley L, Shaw PA, Narod SA. Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. Gynecologic Oncology 2011, 121: 353-357. PMID: 21324516, DOI: 10.1016/j.ygyno.2011.01.020.Peer-Reviewed Original ResearchConceptsInvasive ovarian cancerOvarian cancerFirst-degree relativesMultiplex ligation-dependent probe amplificationUnselected patientsBRCA2 mutationsNon-mucinous ovarian cancerGermline mutationsCombined mutation frequencyPopulation-based seriesOvarian cancer patientsCommon adult cancersSerous ovarian cancerPrevalence of mutationsFrequency of BRCA1Mucinous carcinomaCancer patientsAdult cancersLigation-dependent probe amplificationCancerGenetic testingPatientsWomenBreastBRCA1
2010
A KRAS-Variant in Ovarian Cancer Acts as a Genetic Marker of Cancer Risk
Ratner E, Lu L, Boeke M, Barnett R, Nallur S, Chin LJ, Pelletier C, Blitzblau R, Tassi R, Paranjape T, Hui P, Godwin AK, Yu H, Risch H, Rutherford T, Schwartz P, Santin A, Matloff E, Zelterman D, Slack FJ, Weidhaas JB. A KRAS-Variant in Ovarian Cancer Acts as a Genetic Marker of Cancer Risk. Cancer Research 2010, 70: 6509-6515. PMID: 20647319, PMCID: PMC2923587, DOI: 10.1158/0008-5472.can-10-0689.Peer-Reviewed Original ResearchConceptsOvarian cancerKRAS-variantOC patientsCancer riskRisk of OCIndependent case-control analysesCase-control studyOvarian cancer syndromeCase-control analysisFamily membersAdvanced diseaseWomen's cancersRisk factorsBRCA2 mutationsHBOC patientsOC casesIndependent cohortHBOC familiesHereditary breastSolid tumorsCancer syndromesKRAS oncogeneVariant allelesPatientsCancer
2008
Uptake of clinical genetic testing for ovarian cancer in Ontario: A population-based study
Metcalfe KA, Fan I, McLaughlin J, Risch HA, Rosen B, Murphy J, Bradley L, Armel S, Sun P, Narod SA. Uptake of clinical genetic testing for ovarian cancer in Ontario: A population-based study. Gynecologic Oncology 2008, 112: 68-72. PMID: 19019415, PMCID: PMC3074978, DOI: 10.1016/j.ygyno.2008.10.007.Peer-Reviewed Original ResearchConceptsInvasive ovarian cancerClinical genetic testingOvarian cancerGenetic testingGenetic test resultsBlood samplesPositive genetic test resultOntario Cancer RegistryPopulation-based studyEpithelial ovarian cancerProportion of womenCancer RegistryRisk factorsBRCA2 mutationsClinical testingCancerWomenBRCA2BRCA1Small proportionPrevious testingMutationsPatientsTestingRegistry
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
2006
Population BRCA1 and BRCA2 Mutation Frequencies and Cancer Penetrances: A Kin–Cohort Study in Ontario, Canada
Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Fan I, Tang J, Li S, Zhang S, Shaw PA, Narod SA. Population BRCA1 and BRCA2 Mutation Frequencies and Cancer Penetrances: A Kin–Cohort Study in Ontario, Canada. Journal Of The National Cancer Institute 2006, 98: 1694-1706. PMID: 17148771, DOI: 10.1093/jnci/djj465.Peer-Reviewed Original ResearchConceptsIncident ovarian cancerAge 80 yearsGeneral Ontario populationOvarian cancerBRCA2 mutationsTypes of cancerMutation carriageCumulative incidenceRelative riskBreast cancerHigh riskGeneral populationBRCA1 mutationsInvasive ovarian cancerCancer incidence ratesFirst-degree relativesBRCA2 mutation frequencyOntario populationUnselected patientsMale breastTestis cancerCancer outcomesPancreatic cancerIncidence rateCancer risk
2003
Reproductive factors and ovarian cancer risk in Jewish BRCA1 and BRCA2 mutation carriers (United States)
Modugno F, Moslehi R, Ness RB, Nelson DB, Belle S, Kant JA, Wheeler JE, Wonderlick A, Fishman D, Karlan B, Risch H, Cramer DW, Dube MP, Narod SA. Reproductive factors and ovarian cancer risk in Jewish BRCA1 and BRCA2 mutation carriers (United States). Cancer Causes & Control 2003, 14: 439-446. PMID: 12946038, DOI: 10.1023/a:1024932427503.Peer-Reviewed Original ResearchConceptsBRCA1 carriersOC useTubal ligationOvarian cancerReproductive factorsInvasive epithelial ovarian cancerFounder mutationOral contraceptive useHistory of breastfeedingEpithelial ovarian cancerOvarian cancer casesOvarian cancer riskBRCA1 founder mutationsBRCA2 mutation carriersAshkenazi founder mutationsCase-only studyNulliparous womenGynecologic surgeryBRCA1/2 carriersRisk factorsBRCA2 mutationsCancer casesLive birthsBRCA1/2 mutationsContraceptive use
2002
Histopathologic Features of Genetically Determined Ovarian Cancer
Shaw P, McLaughlin J, Zweemer R, Narod S, Risch H, Verheijen R, Ryan A, Menko F, Kenemans P, Jacobs I. Histopathologic Features of Genetically Determined Ovarian Cancer. International Journal Of Gynecological Pathology 2002, 21: 407-411. PMID: 12352190, DOI: 10.1097/00004347-200210000-00011.Peer-Reviewed Original ResearchConceptsInvasive serous carcinomasOvarian carcinomaSilverberg gradeGermline mutationsHistologic typeSerous carcinomaNuclear gradeGOG grade 3High histologic gradeBRCA1/BRCA2Serous histologyGynecologic pathologistsHistologic featuresHistopathologic featuresBRCA carriersHistologic gradeBRCA mutationsOvarian cancerArchitectural gradeBRCA2 mutationsGrade 3Germline BRCA1CarcinomaMutation statusControl group
2001
Progesterone receptor variant increases ovarian cancer risk in BRCA1 and BRCA2 mutation carriers who were never exposed to oral contraceptives
Runnebaum I, Wang-Gohrke S, Vesprini D, Kreienberg R, Lynch H, Moslehi R, Ghadirian P, Weber B, Godwin A, Risch H, Garber J, Lerman C, Olopade O, Foulkes W, Karlan B, Warner E, Rosen B, Rebbeck T, Tonin P, Dubé M, Kieback D, Narod S. Progesterone receptor variant increases ovarian cancer risk in BRCA1 and BRCA2 mutation carriers who were never exposed to oral contraceptives. Pharmacogenetics And Genomics 2001, 11: 635-638. PMID: 11668223, DOI: 10.1097/00008571-200110000-00010.Peer-Reviewed Original ResearchConceptsPROGINS alleleOvarian cancerOral contraceptivesBRCA2 mutationsCarriers of BRCA1Oral contraceptive useOvarian cancer riskHereditary ovarian cancerBRCA2 mutation carriersOral contraception useForms of cancerYear of birthPrior diagnosisBRCA2 carriersProgesterone receptorBreast cancerMutation carriersContraceptive useCancer riskContraception useHereditary breastDisease statusPast exposureCancerBRCA1 mutationsPrevalence and Penetrance of Germline BRCA1 and BRCA2 Mutations in a Population Series of 649 Women with Ovarian Cancer
Risch H, McLaughlin J, Cole D, Rosen B, Bradley L, Kwan E, Jack E, Vesprini D, Kuperstein G, Abrahamson J, Fan I, Wong B, Narod S. Prevalence and Penetrance of Germline BRCA1 and BRCA2 Mutations in a Population Series of 649 Women with Ovarian Cancer. American Journal Of Human Genetics 2001, 68: 700-710. PMID: 11179017, PMCID: PMC1274482, DOI: 10.1086/318787.Peer-Reviewed Original ResearchConceptsOvarian cancer cluster regionFirst-degree relativesOvarian cancerBRCA2 mutationsProtein truncation testBRCA1 mutationsInvasive cancerBreast cancerAffected first-degree relativeRelatives of noncarriersRisk of ovarianPopulation-based seriesAge 80 yearsBreast cancer riskHereditary ovarian cancerBreast cancer penetranceEarly-onset diseaseLate-onset cancerLeukemia/lymphomaRelatives of casesMutation locationExon 11Borderline histologyIncident casesColorectal cancer
1999
Intron variants of the p53 gene are associated with increased risk for ovarian cancer but not in carriers of BRCA1 or BRCA2 germline mutations
Wang-Gohrke S, Weikel W, Risch H, Vesprini D, Abrahamson J, Lerman C, Godwin A, Moslehi R, Olipade O, Brunet J, Stickeler E, Kieback D, Kreienberg R, Weber B, Narod S, Runnebaum I. Intron variants of the p53 gene are associated with increased risk for ovarian cancer but not in carriers of BRCA1 or BRCA2 germline mutations. British Journal Of Cancer 1999, 81: 179-183. PMID: 10487631, PMCID: PMC2374363, DOI: 10.1038/sj.bjc.6690669.Peer-Reviewed Original ResearchConceptsOvarian cancer patientsBRCA2 germline mutationsCancer patientsOvarian cancerP53 geneGermline mutationsCarriers of BRCA1Breast-ovarian cancer familiesRisk-modifying effectBRCA2 mutation carriersBp duplication polymorphismUnaffected female carriersRestriction fragment length polymorphismDeleterious BRCA1Healthy controlsBRCA2 mutationsMutation carriersCancer familiesPatientsFemale carriersGermline DNACancerIntronic polymorphismDuplication polymorphismMspI restriction fragment length polymorphismAccumulation of p53 protein is frequent in ovarian cancers associated with BRCA1 and BRCA2 germline mutations.
Zweemer R, Shaw P, Verheijen R, Ryan A, Berchuck A, Ponder B, Risch H, McLaughlin J, Narod S, Menko F, Kenemans P, Jacobs I. Accumulation of p53 protein is frequent in ovarian cancers associated with BRCA1 and BRCA2 germline mutations. Journal Of Clinical Pathology 1999, 52: 372. PMID: 10560359, PMCID: PMC1023075, DOI: 10.1136/jcp.52.5.372.Peer-Reviewed Original ResearchConceptsOvarian cancer casesBRCA2 germline mutationsHereditary ovarian cancerOvarian cancerCancer casesP53 accumulationGermline mutationsSomatic genetic eventsInvasive ovarian cancer casesBRCA2 germline mutation carriersOvarian cancer patientsP53 proteinGermline mutation carriersGenetic eventsRole of p53Cancer patientsAntigen retrieval techniqueBRCA mutationsBRCA2 mutationsStudy groupMutation carriersP53 alterationsP53 immunohistochemistryGermline BRCA1Positive cases
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