2015
Identification of six new susceptibility loci for invasive epithelial ovarian cancer
Kuchenbaecker KB, Ramus SJ, Tyrer J, Lee A, Shen HC, Beesley J, Lawrenson K, McGuffog L, Healey S, Lee JM, Spindler TJ, Lin YG, Pejovic T, Bean Y, Li Q, Coetzee S, Hazelett D, Miron A, Southey M, Terry MB, Goldgar DE, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ding YC, Hansen TV, Jønson L, Gerdes AM, Ejlertsen B, Barrowdale D, Dennis J, Benitez J, Osorio A, Garcia MJ, Komenaka I, Weitzel JN, Ganschow P, Peterlongo P, Bernard L, Viel A, Bonanni B, Peissel B, Manoukian S, Radice P, Papi L, Ottini L, Fostira F, Konstantopoulou I, Garber J, Frost D, Perkins J, Platte R, Ellis S, Godwin A, Schmutzler R, Meindl A, Engel C, Sutter C, Sinilnikova O, Damiola F, Mazoyer S, Stoppa-Lyonnet D, Claes K, De Leeneer K, Kirk J, Rodriguez G, Piedmonte M, O'Malley D, de la Hoya M, Caldes T, Aittomäki K, Nevanlinna H, Collée J, Rookus M, Oosterwijk J, Tihomirova L, Tung N, Hamann U, Isaccs C, Tischkowitz M, Imyanitov E, Caligo M, Campbell I, Hogervorst F, Olah E, Diez O, Blanco I, Brunet J, Lazaro C, Pujana M, Jakubowska A, Gronwald J, Lubinski J, Sukiennicki G, Barkardottir R, Plante M, Simard J, Soucy P, Montagna M, Tognazzo S, Teixeira M, Pankratz V, Wang X, Lindor N, Szabo C, Kauff N, Vijai J, Aghajanian C, Pfeiler G, Berger A, Singer C, Tea M, Phelan C, Greene M, Mai P, Rennert G, Mulligan A, Tchatchou S, Andrulis I, Glendon G, Toland A, Jensen U, Kruse T, Thomassen M, Bojesen A, Zidan J, Friedman E, Laitman Y, Soller M, Liljegren A, Arver B, Einbeigi Z, Stenmark-Askmalm M, Olopade O, Nussbaum R, Rebbeck T, Nathanson K, Domchek S, Lu K, Karlan B, Walsh C, Lester J, Hein A, Ekici A, Beckmann M, Fasching P, Lambrechts D, Van Nieuwenhuysen E, Vergote I, Lambrechts S, Dicks E, Doherty J, Wicklund K, Rossing M, Rudolph A, Chang-Claude J, Wang-Gohrke S, Eilber U, Moysich K, Odunsi K, Sucheston L, Lele S, Wilkens L, Goodman M, Thompson P, Shvetsov Y, Runnebaum I, Dürst M, Hillemanns P, Dörk T, Antonenkova N, Bogdanova N, Leminen A, Pelttari L, Butzow R, Modugno F, Kelley J, Edwards R, Ness R, du Bois A, Heitz F, Schwaab I, Harter P, Matsuo K, Hosono S, Orsulic S, Jensen A, Kjaer S, Hogdall E, Hasmad H, Azmi M, Teo S, Woo Y, Fridley B, Goode E, Cunningham J, Vierkant R, Bruinsma F, Giles G, Liang D, Hildebrandt M, Wu X, Levine D, Bisogna M, Berchuck A, Iversen E, Schildkraut J, Concannon P, Weber R, Cramer D, Terry K, Poole E, Tworoger S, Bandera E, Orlow I, Olson S, Krakstad C, Salvesen H, Tangen I, Bjorge L, van Altena A, Aben K, Kiemeney L, Massuger L, Kellar M, Brooks-Wilson A, Kelemen L, Cook L, Le N, Cybulski C, Yang H, Lissowska J, Brinton L, Wentzensen N, Hogdall C, Lundvall L, Nedergaard L, Baker H, Song H, Eccles D, McNeish I, Paul J, Carty K, Siddiqui N, Glasspool R, Whittemore A, Rothstein J, McGuire V, Sieh W, Ji B, Zheng W, Shu X, Gao Y, Rosen B, Risch H, McLaughlin J, Narod S, Monteiro A, Chen A, Lin H, Permuth-Wey J, Sellers T, Tsai Y, Chen Z, Ziogas A, Anton-Culver H, Gentry-Maharaj A, Menon U, Harrington P, Lee A, Wu A, Pearce C, Coetzee G, Pike M, Dansonka-Mieszkowska A, Timorek A, Rzepecka I, Kupryjanczyk J, Freedman M, Noushmehr H, Easton D, Offit K, Couch F, Gayther S, Pharoah P, Antoniou A, Chenevix-Trench G. Identification of six new susceptibility loci for invasive epithelial ovarian cancer. Nature Genetics 2015, 47: 164-171. PMID: 25581431, PMCID: PMC4445140, DOI: 10.1038/ng.3185.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAllelesBRCA1 ProteinBRCA2 ProteinCarcinoma, Ovarian EpithelialFemaleGenes, ReporterGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHeterozygoteHumansMutationNeoplasms, Glandular and EpithelialOvarian NeoplasmsPolymorphism, Single NucleotideQuantitative Trait LociRiskYoung Adult
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 levelBRCA1Mutations
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
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
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