2020
Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers
Mavaddat N, Antoniou A, Mooij T, Hooning M, Heemskerk-Gerritsen B, Noguès C, Gauthier-Villars M, Caron O, Gesta P, Pujol P, Lortholary A, Barrowdale D, Frost D, Evans D, Izatt L, Adlard J, Eeles R, Brewer C, Tischkowitz M, Henderson A, Cook J, Eccles D, van Engelen K, Mourits M, Ausems M, Koppert L, Hopper J, John E, Chung W, Andrulis I, Daly M, Buys S, Benitez J, Caldes T, Jakubowska A, Simard J, Singer C, Tan Y, Olah E, Navratilova M, Foretova L, Gerdes A, Roos-Blom M, Van Leeuwen F, Arver B, Olsson H, Schmutzler R, Engel C, Kast K, Phillips K, Terry M, Milne R, Goldgar D, Rookus M, Andrieu N, Easton D. Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers. Breast Cancer Research 2020, 22: 25. PMID: 32102695, PMCID: PMC7045606, DOI: 10.1186/s13058-020-01259-w.Peer-Reviewed Original Research
2018
Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study
Schrijver L, Olsson H, Phillips K, Terry M, Goldgar D, Kast K, Engel C, Mooij T, Adlard J, Barrowdale D, Davidson R, Eeles R, Ellis S, Evans D, Frost D, Izatt L, Porteous M, Side L, Walker L, Berthet P, Bonadona V, Leroux D, Mouret-Fourme E, Venat-Bouvet L, Buys S, Southey M, John E, Chung W, Daly M, Bane A, van Asperen C, Gómez Garcia E, Mourits M, van Os T, Roos-Blom M, Friedlander M, McLachlan S, Singer C, Tan Y, Foretova L, Navratilova M, Gerdes A, Caldes T, Simard J, Olah E, Jakubowska A, Arver B, Osorio A, Noguès C, Andrieu N, Easton D, van Leeuwen F, Hopper J, Milne R, Antoniou A, Rookus M, . Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study. JNCI Cancer Spectrum 2018, 2: pky023. PMID: 31360853, PMCID: PMC6649757, DOI: 10.1093/jncics/pky023.Peer-Reviewed Original ResearchBRCA2 mutation carriersAssociated with BC riskOral contraceptive preparationsBC riskBRCA1 mutation carriersMutation carriersYoung middle-aged womenProspective analysisEvidence of increased riskIncreased BC riskBRCA1/2 mutation carriersBreast cancerRetrospective analysisMiddle-aged womenNonhormonal contraceptive methodsBirth cohortRisk associationCohort studyProspective cohortSurvival biasContraceptive preparationsOCP useBRCA2Cox regressionContraceptive methods
2016
Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
Vigorito E, Kuchenbaecker K, Beesley J, Adlard J, Agnarsson B, Andrulis I, Arun B, Barjhoux L, Belotti M, Benitez J, Berger A, Bojesen A, Bonanni B, Brewer C, Caldes T, Caligo M, Campbell I, Chan S, Claes K, Cohn D, Cook J, Daly M, Damiola F, Davidson R, de Pauw A, Delnatte C, Diez O, Domchek S, Dumont M, Durda K, Dworniczak B, Easton D, Eccles D, Edwinsdotter Ardnor C, Eeles R, Ejlertsen B, Ellis S, Evans D, Feliubadalo L, Fostira F, Foulkes W, Friedman E, Frost D, Gaddam P, Ganz P, Garber J, Garcia-Barberan V, Gauthier-Villars M, Gehrig A, Gerdes A, Giraud S, Godwin A, Goldgar D, Hake C, Hansen T, Healey S, Hodgson S, Hogervorst F, Houdayer C, Hulick P, Imyanitov E, Isaacs C, Izatt L, Izquierdo A, Jacobs L, Jakubowska A, Janavicius R, Jaworska-Bieniek K, Jensen U, John E, Vijai J, Karlan B, Kast K, Investigators K, Khan S, Kwong A, Laitman Y, Lester J, Lesueur F, Liljegren A, Lubinski J, Mai P, Manoukian S, Mazoyer S, Meindl A, Mensenkamp A, Montagna M, Nathanson K, Neuhausen S, Nevanlinna H, Niederacher D, Olah E, Olopade O, Ong K, Osorio A, Park S, Paulsson-Karlsson Y, Pedersen I, Peissel B, Peterlongo P, Pfeiler G, Phelan C, Piedmonte M, Poppe B, Pujana M, Radice P, Rennert G, Rodriguez G, Rookus M, Ross E, Schmutzler R, Simard J, Singer C, Slavin T, Soucy P, Southey M, Steinemann D, Stoppa-Lyonnet D, Sukiennicki G, Sutter C, Szabo C, Tea M, Teixeira M, Teo S, Terry M, Thomassen M, Tibiletti M, Tihomirova L, Tognazzo S, van Rensburg E, Varesco L, Varon-Mateeva R, Vratimos A, Weitzel J, McGuffog L, Kirk J, Toland A, Hamann U, Lindor N, Ramus S, Greene M, Couch F, Offit K, Pharoah P, Chenevix-Trench G, Antoniou A. Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. PLOS ONE 2016, 11: e0158801. PMID: 27463617, PMCID: PMC4963094, DOI: 10.1371/journal.pone.0158801.Peer-Reviewed Original ResearchConceptsOvarian cancer riskBRCA2 mutation carriersModify ovarian cancer riskBRCA1 mutation carriersCancer riskOvarian cancer associationMutation carriersCausal variantsFine-scale mappingGeneral populationBRCA-2 mutation carriersCancer associationCancer risk modificationGenome wide association studiesPotential causal variantsTranscription start siteCorrelated SNPsGenotype imputationRisk modificationStart siteAssociation studiesGenotype dataBRCA1BRCA2BNC2
2015
Treatment of infertility does not increase the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation
Gronwald J, Glass K, Rosen B, Karlan B, Tung N, Neuhausen S, Moller P, Ainsworth P, Sun P, Narod S, Lubinski J, Kotsopoulos J, Group B, Lynch H, Cybulski C, Kim-Sing C, Friedman S, Senter L, Weitzel J, Singer C, Eng C, Mitchell G, Huzarski T, McCuaig J, Eisen A, Gilchrist D, Blum J, Zakalik D, Pal T, Daly M, Weber B, Snyder C, Fallen T, Chudley A, Lunn J, Donenberg T, Kurz R, Saal H, Garber J, Rennert G, Sweet K, Rappaport C, Lemire E, Stoppa-Lyonnet D, Olopade O, Merajver S, Bordeleau L, Cullinane C, Friedman E, McKinnon W, Wood M, Rayson D, Meschino W, Costalas J, Reilly R, Vadaparampil S, Offit K, Kauff N, Euhus D, Kwong A, Isaacs C, Couch F, Manoukian S, Byrski T, Elser C, Panchal S, Armel S, Demsky R, Nanda S, Metcalfe K, Poll A, Foulkes W, Robidoux A, Warner E, Maehle L, Evans G, Pasini B, Ginsburg O, Cohen S, Jakubowska A, Little J. Treatment of infertility does not increase the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation. Fertility And Sterility 2015, 105: 781-785. PMID: 26698676, DOI: 10.1016/j.fertnstert.2015.11.034.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedBRCA1 ProteinBRCA2 ProteinCase-Control StudiesChi-Square DistributionDNA Mutational AnalysisFemaleFertilityFertility Agents, FemaleFertilization in VitroGenetic Predisposition to DiseaseHumansInfertilityInsemination, ArtificialLogistic ModelsMiddle AgedMultivariate AnalysisMutationOdds RatioOvarian NeoplasmsPregnancyReproductive Techniques, AssistedRisk AssessmentRisk FactorsSurveys and QuestionnairesTreatment OutcomeYoung AdultConceptsRisk of ovarian cancerOvarian cancerTreatment of infertilityBRCA2 mutationsEstimate odds ratiosBRCA2 mutation carriersConditional logistic regressionFertility medicationsDiagnosis of ovarian cancerCase-control studyOdds ratioBRCA mutationsMutation carriersLogistic regressionAdministered questionnairesIVF treatmentBRCA2BRCA1CancerInfertilityInfertility treatmentWomenRiskMedicationTreatment
2014
Assessment of Interest for Breast Cancer Prevention Trial Participation among BRCA Mutation Carriers
Rachel M, Vera S, Mary D, Sumithra M, Paul J, S, Pruthi. Assessment of Interest for Breast Cancer Prevention Trial Participation among BRCA Mutation Carriers. Hereditary Genetics 2014, 03 DOI: 10.4172/2161-1041.1000127.Peer-Reviewed Original Research
2012
Association Between BRCA1 and BRCA2 Mutations and Survival in Women With Invasive Epithelial Ovarian Cancer
Bolton K, Trench G, Goh C, Sadetzki S, Ramus S, Karlan B, Lambrechts D, Despierre E, Barrowdale D, McGuffog L, Healey S, Easton D, Sinilnikova O, Benítez J, García M, Neuhausen S, Gail M, Hartge P, Peock S, Frost D, Evans D, Eeles R, Godwin A, Daly M, Kwong A, K. E, Lázaro C, Blanco I, Montagna M, D'Andrea E, Nicoletto M, Johnatty S, Kjær S, Jensen A, Høgdall E, Goode E, Fridley B, Loud J, Greene M, L. P, Chetrit A, Lubin F, Hirsh-Yechezkel G, Glendon G, Andrulis I, Toland A, Senter L, Gore M, Gourley C, Michie C, Song H, Tyrer J, Whittemore A, McGuire V, Sieh W, Kristoffersson U, Olsson H, Borg Å, Levine D, Steele L, Beattie M, Chan S, Nussbaum R, Moysich K, Gross J, Cass I, Walsh C, Li A, Leuchter R, Gordon O, Garcia-Closas M, Gayther S, Chanock S, Antoniou A, Pharoah P, Investigators A. Association Between BRCA1 and BRCA2 Mutations and Survival in Women With Invasive Epithelial Ovarian Cancer. JAMA 2012, 307: 382-389. PMID: 22274685, PMCID: PMC3727895, DOI: 10.1001/jama.2012.20.Peer-Reviewed Original ResearchConceptsEpithelial ovarian cancerInvasive epithelial ovarian cancerBRCA2 carriersOvarian cancerGermline mutationsOverall survivalInvasive EOCEpithelial ovarian cancer casesEffect of BRCA1BRCA2 mutation carriersSurvival of womenYear of diagnosisPathogenic germline mutationsBRCA1 carriersBRCA2 mutationsBRCA carriersFavorable survivalImprove prognosisSurvival differencesMutation carriersBRCA2Pooled analysisBRCA1Observational studyCancer
2010
Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2
Petrucelli N, Daly M, Feldman G. Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2. Genetics In Medicine 2010, 12: 245-259. PMID: 20216074, DOI: 10.1097/gim.0b013e3181d38f2f.Peer-Reviewed Original ResearchConceptsBRCA1/2 mutationsBRCA2 mutationsHereditary breastTesting of at-risk relativesFamily history of cancerOvarian cancerAt-risk relativesPrimary prevention optionsHistory of cancerPrevalence of BRCA1/2 mutationsEstimates of penetranceAshkenazi Jewish populationCancer riskProphylactic surgeryPrevention optionsFamily historyBRCA2 genesEarly interventionFamily membersBRCA2Increased surveillanceFamilial mutationsBRCA1/2BRCA1Jewish population
2009
Modification of Ovarian Cancer Risk by BRCA1/2-Interacting Genes in a Multicenter Cohort of BRCA1/2 Mutation Carriers
Rebbeck T, Mitra N, Domchek S, Wan F, Chuai S, Friebel T, Panossian S, Spurdle A, Chenevix-Trench G, Singer C, Pfeiler G, Neuhausen S, Lynch H, Garber J, Weitzel J, Isaacs C, Couch F, Narod S, Rubinstein W, Tomlinson G, Ganz P, Olopade O, Tung N, Blum J, Greenberg R, Nathanson K, Daly M. Modification of Ovarian Cancer Risk by BRCA1/2-Interacting Genes in a Multicenter Cohort of BRCA1/2 Mutation Carriers. Cancer Research 2009, 69: 5801-5810. PMID: 19584272, PMCID: PMC2751603, DOI: 10.1158/0008-5472.can-09-0625.Peer-Reviewed Original ResearchMeSH KeywordsAcid Anhydride HydrolasesAdultAgedAged, 80 and overAtaxia Telangiectasia Mutated ProteinsBRCA1 ProteinBRCA2 ProteinCarrier ProteinsCell Cycle ProteinsDNA Repair EnzymesDNA-Binding ProteinsEndodeoxyribonucleasesFanconi Anemia Complementation Group ProteinsFemaleGene FrequencyGenotypeHaplotypesHeterozygoteHumansMiddle AgedMRE11 Homologue ProteinMutationNuclear ProteinsOvarian NeoplasmsPolymorphism, Single NucleotideProtein Serine-Threonine KinasesRad51 RecombinaseRisk FactorsRNA HelicasesTumor Suppressor ProteinsUbiquitin-Protein LigasesConceptsAssociated with ovarian cancer riskOvarian cancer riskBRCA1/2 mutation carriersCancer riskMutation carriersElevated ovarian cancer riskOvarian cancer risk assessmentBRCA1/2 mutationsInherited BRCA1/2 mutationsBRCA2 mutation carriersCancer risk assessmentStatistically significant associationBRCA2 carriersBRCA1 carriersEvaluated haplotypesKnowledge of factorsHaplotype associationSignificant associationOvarian cancerRare haplotypesMulticenter cohortBRCA2BRIP1BRCA1/2Haplotypes
2007
AURKA F31I Polymorphism and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers: A Consortium of Investigators of Modifiers of BRCA1/2 Study
Couch F, Sinilnikova O, Vierkant R, Pankratz V, Fredericksen Z, Stoppa-Lyonnet D, Coupier I, Hughes D, Hardouin A, Berthet P, Peock S, Cook M, Baynes C, Hodgson S, Morrison P, Porteous M, Jakubowska A, Lubinski J, Gronwald J, Spurdle A, kConFab, Schmutzler R, Versmold B, Engel C, Meindl A, Sutter C, Horst J, Schaefer D, Offit K, Kirchhoff T, Andrulis I, Ilyushik E, Glendon G, Devilee P, Vreeswijk M, Vasen H, Borg A, Backenhorn K, Struewing J, Greene M, Neuhausen S, Rebbeck T, Nathanson K, Domchek S, Wagner T, Garber J, Szabo C, Zikan M, Foretova L, Olson J, Sellers T, Lindor N, Nevanlinna H, Tommiska J, Aittomaki K, Hamann U, Rashid M, Torres D, Simard J, Durocher F, Guenard F, Lynch H, Isaacs C, Weitzel J, Olopade O, Narod S, Daly M, Godwin A, Tomlinson G, Easton D, Chenevix-Trench G, Antoniou A, behalf of the Consortium of Investigators of Modifiers of BRCA1/2 O. AURKA F31I Polymorphism and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers: A Consortium of Investigators of Modifiers of BRCA1/2 Study. Cancer Epidemiology Biomarkers & Prevention 2007, 16: 1416-1421. PMID: 17627006, PMCID: PMC2775799, DOI: 10.1158/1055-9965.epi-07-0129.Peer-Reviewed Original ResearchConceptsBRCA2 mutation carriersBreast cancer riskAssociated with breast cancer riskConsortium of Investigators of Modifiers of BRCA1/2BRCA2 carriersF31I polymorphismMutation carriersCancer riskModify risk of breast cancerRisk of breast cancerBreast cancer risk estimationModifiers of cancer riskAmplification of AURKABilateral prophylactic oophorectomyInactivation of BRCA1Sporadic breast tumorsPredisposition to cancerBRCA2 mutationsProphylactic oophorectomyCancer risk estimatesMenopausal statusBreast tumorsBreast cancerBRCA2Abnormal chromosome segregation
2006
BRCA1 and BRCA2 Mutation Carriers, Oral Contraceptive Use, and Breast Cancer Before Age 50
Haile R, Thomas D, McGuire V, Felberg A, John E, Milne R, Hopper J, Jenkins M, Levine A, Daly M, Buys S, Senie R, Andrulis I, Knight J, Godwin A, Southey M, McCredie M, Giles G, Andrews L, Tucker K, Miron A, Apicella C, Tesoriero A, Bane A, Pike M, Whittemore A, Investigators K. BRCA1 and BRCA2 Mutation Carriers, Oral Contraceptive Use, and Breast Cancer Before Age 50. Cancer Epidemiology Biomarkers & Prevention 2006, 15: 1863-1870. PMID: 17021353, DOI: 10.1158/1055-9965.epi-06-0258.Peer-Reviewed Original ResearchMeSH KeywordsAdultAustraliaBreast NeoplasmsCanadaCarcinoma in SituCarcinoma, Ductal, BreastCase-Control StudiesContraceptives, OralFemaleGenes, BRCA1Genes, BRCA2Genetic Predisposition to DiseaseHeterozygoteHumansLogistic ModelsMiddle AgedMutationReceptors, EstrogenReceptors, ProgesteroneRisk FactorsSurveys and QuestionnairesTime FactorsUnited StatesConceptsRisk of breast cancerBRCA2 mutation carriersOral contraceptive useMutation carriersAssociated with breast cancer riskIncreased risk of breast cancerBreast cancerOral contraceptivesContraceptive useBreast cancer riskUnconditional logistic regressionDuration of oral contraceptive useBRCA1 mutation carriersDuration of useCase-control analysisEffects of oral contraceptivesCancer riskFamily historyModify practicesElevated riskLogistic regressionIncreased riskBRCA2Family relationshipsBRCA1The incidence of BRCA1 and BRCA2 variants of unknown significance varies in different ethnic populations
Opatt D, Morrow M, Daly M. The incidence of BRCA1 and BRCA2 variants of unknown significance varies in different ethnic populations. Journal Of Clinical Oncology 2006, 24: 10002-10002. DOI: 10.1200/jco.2006.24.18_suppl.10002.Peer-Reviewed Original ResearchHistory of breast cancerGenetic testingAfrican American womenBreast cancerPersonal history of breast cancerGenetic counselingAfrican AmericansBRCA2 sequence alterationsIncidence of BRCA1Fox Chase Cancer CenterMutations of BRCA1Personal history of cancerWhite womenAmerican womenHistory of cancerAfrican American ethnicityPersonal historyClassification of VUSBRCA2 mutationsOvarian cancerBRCA2 variantsClinical dataInvasive breastBRCA2Increased risk
2004
Classifying Hereditary Cancers and Phenocopies of Hereditary Cancers Using Expression Arrays
Daly M, Parlanti A, Duggan D. Classifying Hereditary Cancers and Phenocopies of Hereditary Cancers Using Expression Arrays. 2004, 101-116. DOI: 10.1002/047147665x.ch6.Peer-Reviewed Original Research
1996
Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families
Tonin P, Weber B, Offit K, Couch F, Rebbeck T, Neuhausen S, Godwin A, Daly M, Wagner-Costalos J, Berman D, Grana G, Fox E, Kane M, Kolodner R, Krainer M, Haber D, Struewing J, Warner E, Rosen B, Lerman C, Peshkin B, Norton L, Serova O, Foulkes W, Lynch H, Lenoir G, Narod S, Garber J. Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families. Nature Medicine 1996, 2: 1179-1183. PMID: 8898735, DOI: 10.1038/nm1196-1179.Peer-Reviewed Original Research