2019
Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers
Qian F, Rookus MA, Leslie G, Risch HA, Greene MH, Aalfs CM, Adank MA, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arnold N, Arun BK, Ausems MGEM, Azzollini J, Barrowdale D, Barwell J, Benitez J, Białkowska K, Bonadona V, Borde J, Borg A, Bradbury AR, Brunet J, Buys SS, Caldés T, Caligo MA, Campbell I, Carter J, Chiquette J, Chung WK, Claes KBM, Collée JM, Collonge-Rame MA, Couch FJ, Daly MB, Delnatte C, Diez O, Domchek SM, Dorfling CM, Eason J, Easton DF, Eeles R, Engel C, Evans DG, Faivre L, Feliubadaló L, Foretova L, Friedman E, Frost D, Ganz PA, Garber J, Garcia-Barberan V, Gehrig A, Glendon G, Godwin AK, Gómez Garcia EB, Hamann U, Hauke J, Hopper JL, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Jakubowska A, Janavicius R, John EM, Karlan BY, Kets CM, Laitman Y, Lázaro C, Leroux D, Lester J, Lesueur F, Loud JT, Lubiński J, Łukomska A, McGuffog L, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Miller A, Montagna M, Mooij TM, Mouret-Fourme E, Nathanson KL, Nehoray B, Neuhausen SL, Nevanlinna H, Nielsen FC, Offit K, Olah E, Ong KR, Oosterwijk JC, Ottini L, Parsons MT, Peterlongo P, Pfeiler G, Pradhan N, Radice P, Ramus SJ, Rantala J, Rennert G, Robson M, Rodriguez GC, Salani R, Scheuner MT, Schmutzler RK, Shah PD, Side LE, Simard J, Singer CF, Steinemann D, Stoppa-Lyonnet D, Tan YY, Teixeira MR, Terry MB, Thomassen M, Tischkowitz M, Tognazzo S, Toland AE, Tung N, van Asperen CJ, van Engelen K, van Rensburg EJ, Venat-Bouvet L, Vierstraete J, Wagner G, Walker L, Weitzel JN, Yannoukakos D, Antoniou A, Goldgar D, Olopade O, Chenevix-Trench G, Rebbeck T, Huo D. Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers. British Journal Of Cancer 2019, 121: 180-192. PMID: 31213659, PMCID: PMC6738050, DOI: 10.1038/s41416-019-0492-8.Peer-Reviewed Original ResearchConceptsBody mass indexOvarian cancer riskBRCA1/2 mutation carriersBRCA2 mutation carriersCancer riskMutation carriersMass indexGeneral populationHigher ovarian cancer riskHigher body mass indexGenetic scoreOvarian cancer casesMendelian randomisation studyMendelian randomisation approachConsortium of InvestigatorsPostmenopausal womenPremenopausal womenMenopausal statusCancer casesCox modelConclusionOur observationsRandomisation approachM2 increaseRiskPositive association
2017
Risk of breast cancer after a diagnosis of ovarian cancer in BRCA mutation carriers: Is preventive mastectomy warranted?
McGee J, Giannakeas V, Karlan B, Lubinski J, Gronwald J, Rosen B, McLaughlin J, Risch H, Sun P, Foulkes WD, Neuhausen SL, Kotsopoulos J, Narod SA, Group O. Risk of breast cancer after a diagnosis of ovarian cancer in BRCA mutation carriers: Is preventive mastectomy warranted? Gynecologic Oncology 2017, 145: 346-351. PMID: 28314588, DOI: 10.1016/j.ygyno.2017.02.032.Peer-Reviewed Original ResearchConceptsBRCA mutation carriersOvarian cancer patientsOvarian cancerBreast cancerMutation carriersPreventive mastectomyCancer patientsActuarial riskStage III/IV ovarian cancerUnaffected BRCA mutation carriersEarly-stage ovarian cancerBreast cancer incidenceStage ovarian cancerMutation-carrying patientsProportional hazards modelCause of mortalityImpact of mastectomyOvarian cancer diagnosisProbability of deathBreast surveillanceCause mortalityAnnual mortality rateClinical benefitBreast surgeryInternational registry
2016
Association of Common Susceptibility Variants of Pancreatic Cancer in Higher-Risk Patients: A PACGENE Study
Childs EJ, Chaffee KG, Gallinger S, Syngal S, Schwartz AG, Cote ML, Bondy ML, Hruban RH, Chanock SJ, Hoover RN, Fuchs CS, Rider DN, Amundadottir LT, Stolzenberg-Solomon R, Wolpin BM, Risch HA, Goggins MG, Petersen GM, Klein AP. Association of Common Susceptibility Variants of Pancreatic Cancer in Higher-Risk Patients: A PACGENE Study. Cancer Epidemiology Biomarkers & Prevention 2016, 25: 1185-1191. PMID: 27197284, PMCID: PMC5321211, DOI: 10.1158/1055-9965.epi-15-1217.Peer-Reviewed Original ResearchConceptsHigh-risk populationPancreatic cancerEarly onset pancreatic cancerPancreatic cancer familiesHigh-risk patientsMagnitude of associationHigh-penetrance genesGenetic variantsPancreatic cancer susceptibilityUnselected patientsFamily historyProstate cancerColon cancerCommon genetic variantsCancerCancer familiesLogistic regressionCancer susceptibilityCancer susceptibility lociPatientsCancer lociOvarianCommon variantsBreastRisk
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
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
Frequencies 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
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
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 useRe: On the Use of Familial Aggregation in Population-Based Case Probands for Calculating Penetrance
Risch HA, Narod SA. Re: On the Use of Familial Aggregation in Population-Based Case Probands for Calculating Penetrance. Journal Of The National Cancer Institute 2003, 95: 73-74. PMID: 12509405, DOI: 10.1093/jnci/95.1.73-a.Peer-Reviewed Original Research
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 mutations