2018
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
Mavaddat N, Michailidou K, Dennis J, Lush M, Fachal L, Lee A, Tyrer J, Chen T, Wang Q, Bolla M, Yang X, Adank M, Ahearn T, Aittomäki K, Allen J, Andrulis I, Anton-Culver H, Antonenkova N, Arndt V, Aronson K, Auer P, Auvinen P, Barrdahl M, Freeman L, Beckmann M, Behrens S, Benitez J, Bermisheva M, Bernstein L, Blomqvist C, Bogdanova N, Bojesen S, Bonanni B, Børresen-Dale A, Brauch H, Bremer M, Brenner H, Brentnall A, Brock I, Brooks-Wilson A, Brucker S, Brüning T, Burwinkel B, Campa D, Carter B, Castelao J, Chanock S, Chlebowski R, Christiansen H, Clarke C, Collée J, Cordina-Duverger E, Cornelissen S, Couch F, Cox A, Cross S, Czene K, Daly M, Devilee P, Dörk T, dos-Santos-Silva I, Dumont M, Durcan L, Dwek M, Eccles D, Ekici A, Eliassen A, Ellberg C, Engel C, Eriksson M, Evans D, Fasching P, Figueroa J, Fletcher O, Flyger H, Försti A, Fritschi L, Gabrielson M, Gago-Dominguez M, Gapstur S, García-Sáenz J, Gaudet M, Georgoulias V, Giles G, Gilyazova I, Glendon G, Goldberg M, Goldgar D, González-Neira A, Alnæs G, Grip M, Gronwald J, Grundy A, Guénel P, Haeberle L, Hahnen E, Haiman C, Håkansson N, Hamann U, Hankinson S, Harkness E, Hart S, He W, Hein A, Heyworth J, Hillemanns P, Hollestelle A, Hooning M, Hoover R, Hopper J, Howell A, Huang G, Humphreys K, Hunter D, Jakimovska M, Jakubowska A, Janni W, John E, Johnson N, Jones M, Jukkola-Vuorinen A, Jung A, Kaaks R, Kaczmarek K, Kataja V, Keeman R, Kerin M, Khusnutdinova E, Kiiski J, Knight J, Ko Y, Kosma V, Koutros S, Kristensen V, Krüger U, Kühl T, Lambrechts D, Le Marchand L, Lee E, Lejbkowicz F, Lilyquist J, Lindblom A, Lindström S, Lissowska J, Lo W, Loibl S, Long J, Lubiński J, Lux M, MacInnis R, Maishman T, Makalic E, Kostovska I, Mannermaa A, Manoukian S, Margolin S, Martens J, Martinez M, Mavroudis D, McLean C, Meindl A, Menon U, Middha P, Miller N, Moreno F, Mulligan A, Mulot C, Muñoz-Garzon V, Neuhausen S, Nevanlinna H, Neven P, Newman W, Nielsen S, Nordestgaard B, Norman A, Offit K, Olson J, Olsson H, Orr N, Pankratz V, Park-Simon T, Perez J, Pérez-Barrios C, Peterlongo P, Peto J, Pinchev M, Plaseska-Karanfilska D, Polley E, Prentice R, Presneau N, Prokofyeva D, Purrington K, Pylkäs K, Rack B, Radice P, Rau-Murthy R, Rennert G, Rennert H, Rhenius V, Robson M, Romero A, Ruddy K, Ruebner M, Saloustros E, Sandler D, Sawyer E, Schmidt D, Schmutzler R, Schneeweiss A, Schoemaker M, Schumacher F, Schürmann P, Schwentner L, Scott C, Scott R, Seynaeve C, Shah M, Sherman M, Shrubsole M, Shu X, Slager S, Smeets A, Sohn C, Soucy P, Southey M, Spinelli J, Stegmaier C, Stone J, Swerdlow A, Tamimi R, Tapper W, Taylor J, Terry M, Thöne K, Tollenaar R, Tomlinson I, Truong T, Tzardi M, Ulmer H, Untch M, Vachon C, van Veen E, Vijai J, Weinberg C, Wendt C, Whittemore A, Wildiers H, Willett W, Winqvist R, Wolk A, Yang X, Yannoukakos D, Zhang Y, Zheng W, Ziogas A, Investigators A, Investigators K, Collaborators N, Dunning A, Thompson D, Chenevix-Trench G, Chang-Claude J, Schmidt M, Hall P, Milne R, Pharoah P, Antoniou A, Chatterjee N, Kraft P, García-Closas M, Simard J, Easton D. Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes. American Journal Of Human Genetics 2018, 104: 21-34. PMID: 30554720, PMCID: PMC6323553, DOI: 10.1016/j.ajhg.2018.11.002.Peer-Reviewed Original ResearchConceptsPolygenic risk scoresSingle-nucleotide polymorphismsBreast cancer prevention programsPredictor of breast cancer riskCase subjectsRisk of breast cancerOverall breast cancerRisk scoreBreast cancerBreast cancer riskControl subjects of European ancestryCancer prevention programsSubjects of European ancestryArea under receiver-operating curveProspective studyGenome-wide association datasetER-negative diseaseUK BiobankCancer riskStratification of womenGenome-wide arrayMiddle quintileLifetime riskImprove screeningLasso penalized regressionProspective evaluation of body size and breast cancer risk among BRCA1 and BRCA2 mutation carriers
Kim S, Huzarski T, Gronwald J, Singer C, Møller P, Lynch H, Armel S, Karlan B, Foulkes W, Neuhausen S, Senter L, Eisen A, Eng C, Panchal S, Pal T, Olopade O, Zakalik D, Lubinski J, Narod S, Kotsopoulos J, Ainsworth P, Bordeleau L, Tung N, Friedman E, Meschino W, Snyder C, Metcalfe K, Warner E, Rosen B, Demsky R, Weitzel J, Panabaker K, Couch F, Manoukian S, Pasini B, Daly M, Steele L, Saal H, Fallen T, Wood M, McKinnon W, Lemire E, Chudley A, Serfas K, Elser C, Vadaparampil S, Ginsburg O, Cullinane C, Blum J, Ross T, Mauer C, Kwong A, Cybulski C, McCuaig J, Rayson D, Isaacs C. Prospective evaluation of body size and breast cancer risk among BRCA1 and BRCA2 mutation carriers. International Journal Of Epidemiology 2018, 47: 987-997. PMID: 29547931, PMCID: PMC6005062, DOI: 10.1093/ije/dyy039.Peer-Reviewed Original ResearchBreast cancer riskCurrent body mass indexBRCA mutation carriersRisk of breast cancerBody mass indexPost-menopausal breast cancerCancer riskMutation carriersBreast cancerRisk of pre-menopausal breast cancerBiennial follow-up questionnairesHazard ratioIncident breast cancerEvaluation of body sizePre-menopausal breast cancerConfidence intervalsMeasures of adiposityBRCA2 mutation carriersFollow-up questionnaireWeight changeAssociated with riskCox proportional hazards modelsBaseline questionnaireProportional hazards modelFollow-up
2012
Breast and Ovarian Cancer Risk and Risk Reduction in Jewish BRCA1/2 Mutation Carriers
Finkelman B, Rubinstein W, Friedman S, Friebel T, Dubitsky S, Schonberger N, Shoretz R, Singer C, Blum J, Tung N, Olopade O, Weitzel J, Lynch H, Snyder C, Garber J, Schildkraut J, Daly M, Isaacs C, Pichert G, Neuhausen S, Couch F, Veer L, Eeles R, Bancroft E, Evans D, Ganz P, Tomlinson G, Narod S, Matloff E, Domchek S, Rebbeck T. Breast and Ovarian Cancer Risk and Risk Reduction in Jewish BRCA1/2 Mutation Carriers. Journal Of Clinical Oncology 2012, 30: 1321-1328. PMID: 22430266, PMCID: PMC3341145, DOI: 10.1200/jco.2011.37.8133.Peer-Reviewed Original ResearchMeSH KeywordsAdultAge DistributionAgedBreast NeoplasmsCohort StudiesConfidence IntervalsFemaleGenes, BRCA1Genes, BRCA2Genetic Predisposition to DiseaseGenetic TestingGerm-Line MutationHeterozygoteHumansIncidenceJewsMiddle AgedOdds RatioOvarian NeoplasmsPrevalencePrognosisProportional Hazards ModelsRisk AssessmentRisk Reduction BehaviorConceptsRisk-reducing salpingo-oophorectomyRisk of breast cancerOvarian cancer riskCancer riskRelative risk of breast cancerRisk reductionPopulation-based cohort studyBRCA1/2-positive womenMutation carriersCancer risk reductionBRCA1/2 mutation carriersRisk of cancerBreast cancerJewish womenCox proportional hazards modelsOvarian cancerNon-Jewish womenEstimate breastBRCA1/2 carriersProportional hazards modelBRCA2 carriersClinical careRelative riskBRCA1/2 mutationsCohort study
2011
Common Genetic Variation at BARD1 Is Not Associated with Breast Cancer Risk in BRCA1 or BRCA2 Mutation Carriers
Spurdle A, Marquart L, McGuffog L, Healey S, Sinilnikova O, Wan F, Chen X, Beesley J, Singer C, Dressler A, Gschwantler-Kaulich D, Blum J, Tung N, Weitzel J, Lynch H, Garber J, Easton D, Peock S, Cook M, Oliver C, Frost D, Conroy D, Evans D, Lalloo F, Eeles R, Izatt L, Davidson R, Chu C, Eccles D, Selkirk C, Daly M, Isaacs C, Stoppa-Lyonnet D, Sinilnikova O, Buecher B, Belotti M, Mazoyer S, Barjhoux L, Verny-Pierre C, Lasset C, Dreyfus H, Pujol P, Collonge-Rame M, Rookus M, Verhoef S, Kriege M, Hoogerbrugge N, Ausems M, van Os T, Wijnen J, Devilee P, Meijers-Heijboer H, Blok M, Heikkinen T, Nevanlinna H, Jakubowska A, Lubiński J, Huzarski T, Byrski T, Durocher F, Couch F, Lindor N, Wang X, Thomassen M, Domchek S, Nathanson K, Caligo M, Jernström H, Liljegren A, Ehrencrona H, Karlsson P, Ganz P, Olopade O, Tomlinson G, Neuhausen S, Antoniou A, Chenevix-Trench G, Rebbeck T. Common Genetic Variation at BARD1 Is Not Associated with Breast Cancer Risk in BRCA1 or BRCA2 Mutation Carriers. Cancer Epidemiology Biomarkers & Prevention 2011, 20: 1032-1038. PMID: 21393566, PMCID: PMC3089675, DOI: 10.1158/1055-9965.epi-10-0909.Peer-Reviewed Original ResearchConceptsBreast cancer riskAssociated with breast cancer riskBRCA2 mutation carriersBRCA1/2 mutation carriersCancer riskMutation carriersAssociated with risk of breast cancerElevated breast cancer riskBreast cancer risk assessmentRisk of breast cancerBARD1 Cys557Ser variantCancer prevention strategiesPooled effect estimatesCancer risk assessmentAssociated with riskModifiers of riskBRCA2 carriersBRCA1 carriersInherited BRCA1Risk modificationAnalysis of haplotypesPrevention strategiesEffect estimatesKnowledge of factorsBRCA1/2Rare variants in the ATMgene and risk of breast cancer
Goldgar D, Healey S, Dowty J, Da Silva L, Chen X, Spurdle A, Terry M, Daly M, Buys S, Southey M, Andrulis I, John E, BCFR, kConFab, Khanna K, Hopper J, Oefner P, Lakhani S, Chenevix-Trench G. Rare variants in the ATMgene and risk of breast cancer. Breast Cancer Research 2011, 13: r73. PMID: 21787400, PMCID: PMC3236337, DOI: 10.1186/bcr2919.Peer-Reviewed Original ResearchMeSH KeywordsAtaxia Telangiectasia Mutated ProteinsBreast NeoplasmsCase-Control StudiesCell Cycle ProteinsDNA-Binding ProteinsFemaleGenetic Predisposition to DiseaseGenetic VariationHumansLogistic ModelsLoss of HeterozygosityMiddle AgedMutation, MissenseProtein Serine-Threonine KinasesTumor Suppressor ProteinsWhite PeopleConceptsRisk of breast cancerRare sequence variantsLoss of heterozygositySequence variantsIncreased risk of breast cancerBreast cancerAssociated with increased breast cancerATM variantsCase-control family studyHazard ratioModified segregation analysisCases of breast cancerRisk of BCRare ATM variantsIncreased riskConditional logistic regressionATM geneAnalysis of loss of heterozygosityCellular response to DNA double-strand breaksResponse to DNA double-strand breaksFamily-based analysisCase-control analysisDNA damage-response pathwayATM c.Magnitude of risk
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 relationshipsBRCA1
2002
Oral Contraceptives and the Risk of Breast Cancer in BRCA1 and BRCA2 Mutation Carriers
Narod S, Dubé M, Klijn J, Lubinski J, Lynch H, Ghadirian P, Provencher D, Heimdal K, Moller P, Robson M, Offit K, Isaacs C, Weber B, Friedman E, Gershoni-Baruch R, Rennert G, Pasini B, Wagner T, Daly M, Garber J, Neuhausen S, Ainsworth P, Olsson H, Evans G, Osborne M, Couch F, Foulkes W, Warner E, Kim-Sing C, Olopade O, Tung N, Saal H, Weitzel J, Merajver S, Gauthier-Villars M, Jernstrom H, Sun P, Brunet J. Oral Contraceptives and the Risk of Breast Cancer in BRCA1 and BRCA2 Mutation Carriers. Journal Of The National Cancer Institute 2002, 94: 1773-1779. PMID: 12464649, DOI: 10.1093/jnci/94.23.1773.Peer-Reviewed Original ResearchConceptsRisk of breast cancerIncreased risk of breast cancerBRCA1 mutation carriersBRCA2 mutation carriersMutation carriersOral contraceptive useBRCA2 carriersAssociated with risk of breast cancerIncreased riskRisk of early-onset breast cancerIncreased risk of early-onset breast cancerBreast cancerOdds ratioOral contraceptivesHistory of ovarian cancerEarly-onset breast cancerConfidence intervalsConditional logistic regressionBreast cancer susceptibility genesAssociated with riskYear of birthCancer susceptibility genesContraceptive useCase-control studyPairs of women
1996
Breast Cancer Among Radiologic Technologists
Swift M, Daly M, Bernstein L, Love S. Breast Cancer Among Radiologic Technologists. JAMA 1996, 276: 369-369. PMID: 8683810, DOI: 10.1001/jama.1996.03540050029009.Peer-Reviewed Original ResearchConceptsRisk of breast cancerRadiologic technologistsBreast cancer incidenceBreast cancer riskBreast cancer casesBreast cancer diagnosisBreast cancerCancer incidenceCancer riskYears of certificationCancer casesBreast cancer inductionLow-dose ionizing radiationCancer diagnosisLow doses of ionizing radiationIndex dateCalendar yearExposure to relatively low dosesDoses of ionizing radiationExposure to ionizing radiationLength of timeLow dosesBreastCancer inductionIonizing radiation