2024
Hormonal Contraception and Breast Cancer Risk for Carriers of Germline Mutations in BRCA1 and BRCA2.
Phillips K, Kotsopoulos J, Domchek S, Terry M, Chamberlain J, Bassett J, Aeilts A, Andrulis I, Buys S, Cui W, Daly M, Eisen A, Foulkes W, Friedlander M, Gronwald J, Hopper J, John E, Karlan B, Kim R, Kurian A, Lubinski J, Metcalfe K, Nathanson K, Singer C, Southey M, Symecko H, Tung N, Narod S, Milne R, Amor D, Andrews L, Antill Y, Balleine R, Beesley J, Bennett I, Bogwitz M, Bodek S, Botes L, Brennan M, Brown M, Buckley M, Burke J, Butow P, Caldon L, Campbell I, Cao M, Chakrabarti A, Chauhan D, Chauhan M, Chenevix-Trench G, Christian A, Cohen P, Colley A, Crook A, Cui J, Courtney E, Cummings M, Dawson S, DeFazio A, Delatycki M, Dickson R, Dixon J, Edwards S, Farshid G, Fellows A, Fenton G, Field M, Flanagan J, Fong P, Forrest L, Fox S, French J, Friedlander M, Gaff C, Gattas M, George P, Greening S, Harris M, Hart S, Harraka P, Hayward N, Hopper J, Hoskins C, Hunt C, James P, Jenkins M, Kidd A, Kirk J, Koehler J, Kollias J, Lakhani S, Lawrence M, Lee J, Li S, Lindeman G, Lippey J, Lipton L, Lobb L, Loi S, Mann G, Marsh D, McLachlan S, Meiser B, Milne R, Nightingale S, O'Connell S, O'Sullivan S, Ortega D, Pachter N, Pang J, Pathak G, Patterson B, Pearn A, Phillips K, Pieper E, Ramus S, Rickard E, Ragunathan A, Robinson B, Saleh M, Skandarajah A, Salisbury E, Saunders C, Saunus J, Savas P, Scott R, Scott C, Sexton A, Shaw J, Shelling A, Srinivasa S, Simpson P, Southey M, Spurdle A, Taylor J, Taylor R, Thorne H, Trainer A, Tucker K, Visvader J, Walker L, Williams R, Winship I, Young M, Zaheed M. Hormonal Contraception and Breast Cancer Risk for Carriers of Germline Mutations in BRCA1 and BRCA2. Journal Of Clinical Oncology 2024, jco2400176. PMID: 39356978, DOI: 10.1200/jco.24.00176.Peer-Reviewed Original ResearchAssociated with increased BC riskBC riskHormonal contraceptionMutation carriersBreast cancerAssociated with BC riskCarriers of germline mutationsBreast cancer riskMedian follow-upAssociated with increased riskIncreased breast cancerHormonal contraceptive useProspective cohort studyGermline mutationsFollow-upCohort studyCox regressionCancer riskContraceptive useContraceptionCumulative durationMutationsRiskProportional increaseYears
2021
Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
Coignard J, Lush M, Beesley J, O’Mara T, Dennis J, Tyrer J, Barnes D, McGuffog L, Leslie G, Bolla M, Adank M, Agata S, Ahearn T, Aittomäki K, Andrulis I, Anton-Culver H, Arndt V, Arnold N, Aronson K, Arun B, Augustinsson A, Azzollini J, Barrowdale D, Baynes C, Becher H, Bermisheva M, Bernstein L, Białkowska K, Blomqvist C, Bojesen S, Bonanni B, Borg A, Brauch H, Brenner H, Burwinkel B, Buys S, Caldés T, Caligo M, Campa D, Carter B, Castelao J, Chang-Claude J, Chanock S, Chung W, Claes K, Clarke C, Collée J, Conroy D, Czene K, Daly M, Devilee P, Diez O, Ding Y, Domchek S, Dörk T, dos-Santos-Silva I, Dunning A, Dwek M, Eccles D, Eliassen A, Engel C, Eriksson M, Evans D, Fasching P, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gago-Dominguez M, Gapstur S, Garber J, Garcia-Barberan V, García-Closas M, García-Sáenz J, Gaudet M, Gayther S, Gehrig A, Georgoulias V, Giles G, Godwin A, Goldberg M, Goldgar D, González-Neira A, Greene M, Guénel P, Haeberle L, Hahnen E, Haiman C, Håkansson N, Hall P, Hamann U, Harrington P, Hart S, He W, Hogervorst F, Hollestelle A, Hopper J, Horcasitas D, Hulick P, Hunter D, Imyanitov E, Jager A, Jakubowska A, James P, Jensen U, John E, Jones M, Kaaks R, Kapoor P, Karlan B, Keeman R, Khusnutdinova E, Kiiski J, Ko Y, Kosma V, Kraft P, Kurian A, Laitman Y, Lambrechts D, Le Marchand L, Lester J, Lesueur F, Lindstrom T, Lopez-Fernández A, Loud J, Luccarini C, Mannermaa A, Manoukian S, Margolin S, Martens J, Mebirouk N, Meindl A, Miller A, Milne R, Montagna M, Nathanson K, Neuhausen S, Nevanlinna H, Nielsen F, O’Brien K, Olopade O, Olson J, Olsson H, Osorio A, Ottini L, Park-Simon T, Parsons M, Pedersen I, Peshkin B, Peterlongo P, Peto J, Pharoah P, Phillips K, Polley E, Poppe B, Presneau N, Pujana M, Punie K, Radice P, Rantala J, Rashid M, Rennert G, Rennert H, Robson M, Romero A, Rossing M, Saloustros E, Sandler D, Santella R, Scheuner M, Schmidt M, Schmidt G, Scott C, Sharma P, Soucy P, Southey M, Spinelli J, Steinsnyder Z, Stone J, Stoppa-Lyonnet D, Swerdlow A, Tamimi R, Tapper W, Taylor J, Terry M, Teulé A, Thull D, Tischkowitz M, Toland A, Torres D, Trainer A, Truong T, Tung N, Vachon C, Vega A, Vijai J, Wang Q, Wappenschmidt B, Weinberg C, Weitzel J, Wendt C, Wolk A, Yadav S, Yang X, Yannoukakos D, Zheng W, Ziogas A, Zorn K, Park S, Thomassen M, Offit K, Schmutzler R, Couch F, Simard J, Chenevix-Trench G, Easton D, Andrieu N, Antoniou A. Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. Nature Communications 2021, 12: 2986. PMID: 33990587, PMCID: PMC8121813, DOI: 10.1038/s41467-021-23162-4.Peer-Reviewed Original Research
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
The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With BRCA1 or BRCA2 Mutations
Terry M, Liao Y, Kast K, Antoniou A, McDonald J, Mooij T, Engel C, Nogues C, Buecher B, Mari V, Moretta-Serra J, Gladieff L, Luporsi E, Barrowdale D, Frost D, Henderson A, Brewer C, Evans D, Eccles D, Cook J, Ong K, Izatt L, Ahmed M, Morrison P, Dommering C, Oosterwijk J, Ausems M, Kriege M, Buys S, Andrulis I, John E, Daly M, Friedlander M, McLachlan S, Osorio A, Caldes T, Jakubowska A, Simard J, Singer C, Tan Y, Olah E, Navratilova M, Foretova L, Gerdes A, Roos-Blom M, Arver B, Olsson H, Schmutzler R, Hopper J, van Leeuwen F, Goldgar D, Milne R, Easton D, Rookus M, Andrieu N, . The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With BRCA1 or BRCA2 Mutations. JNCI Cancer Spectrum 2018, 2: pky078. PMID: 30873510, PMCID: PMC6405439, DOI: 10.1093/jncics/pky078.Peer-Reviewed Original ResearchFull-term pregnancyAssociated with decreased BC riskAssociated with BC riskBC riskIncreased BC riskMutation carriersTime of pregnancyRetrospective cohortBreast cancerBreast cancer riskTime-varying Cox proportional hazards modelsIncreasing duration of breastfeedingReduce breast cancerCox proportional hazards modelsDuration of breastfeedingProportional hazards modelBRCA2 mutationsProspective studyProspective cohortCancer riskProspective analysisHigh riskPregnancyHazards modelCohortOral 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 methodsProspective 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
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 treatmentWomenRiskMedicationTreatmentBRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers
Meeks HD, Song H, Michailidou K, Bolla MK, Dennis J, Wang Q, Barrowdale D, Frost D, EMBRACE, McGuffog L, Ellis S, Feng B, Buys S, Hopper J, Southey M, Tesoriero A, Investigators K, James P, Bruinsma F, Campbell I, Group A, Broeks A, Schmidt M, Hogervorst F, HEBON, Beckman M, Fasching P, Fletcher O, Johnson N, Sawyer E, Riboli E, Banerjee S, Menon U, Tomlinson I, Burwinkel B, Hamann U, Marme F, Rudolph A, Janavicius R, Tihomirova L, Tung N, Garber J, Cramer D, Terry K, Poole E, Tworoger S, Dorfling C, van Rensburg E, Godwin A, Guénel P, Truong T, Collaborators G, Stoppa-Lyonnet D, Damiola F, Mazoyer S, Sinilnikova O, Isaacs C, Maugard C, Bojesen S, Flyger H, Gerdes A, Hansen T, Jensen A, Kjaer S, Hogdall C, Hogdall E, Pedersen I, Thomassen M, Benitez J, González-Neira A, Osorio A, de la Hoya M, Segura P, Diez O, Lazaro C, Brunet J, Anton-Culver H, Eunjung L, John E, Neuhausen S, Ding Y, Castillo D, Weitzel J, Ganz P, Nussbaum R, Chan S, Karlan B, Lester J, Wu A, Gayther S, Ramus S, Sieh W, Whittermore A, Monteiro A, Phelan C, Terry M, Piedmonte M, Offit K, Robson M, Levine D, Moysich K, Cannioto R, Olson S, Daly M, Nathanson K, Domchek S, Lu K, Liang D, Hildebrant M, Ness R, Modugno F, Pearce L, Goodman M, Thompson P, Brenner H, Butterbach K, Meindl A, Hahnen E, Wappenschmidt B, Brauch H, Brüning T, Blomqvist C, Khan S, Nevanlinna H, Pelttari L, Aittomäki K, Butzow R, Bogdanova N, Dörk T, Lindblom A, Margolin S, Rantala J, Kosma V, Mannermaa A, Lambrechts D, Neven P, Claes K, Van Maerken T, Chang-Claude J, Flesch-Janys D, Heitz F, Varon-Mateeva R, Peterlongo P, Radice P, Viel A, Barile M, Peissel B, Manoukian S, Montagna M, Oliani C, Peixoto A, Teixeira M, Collavoli A, Hallberg E, Olson J, Goode E, Hart S, Shimelis H, Cunningham J, Giles G, Milne R, Healey S, Tucker K, Haiman C, Henderson B, Goldberg M, Tischkowitz M, Simard J, Soucy P, Eccles D, Le N, Borresen-Dale A, Kristensen V, Salvesen H, Bjorge L, Bandera E, Risch H, Zheng W, Beeghly-Fadiel A, Cai H, Pylkäs K, Tollenaar R, van der Ouweland A, Andrulis I, Knight J, OCGN, Narod S, Devilee P, Winqvist R, Figueroa J, Greene M, L. P, Loud J, García-Closas M, Schoemaker M, Czene K, Darabi H, McNeish I, Siddiquil N, Glasspool R, Kwong A, Park S, Teo S, Yoon S, Matsuo K, Hosono S, Woo Y, Gao Y, Foretova L, Singer C, Rappaport-Feurhauser C, Friedman E, Laitman Y, Rennert G, Imyanitov E, Hulick P, Olopade O, Senter L, Olah E, Doherty J, Schildkraut J, Koppert L, Kiemeney L, Massuger L, Cook L, Pejovic T, Li J, Borg A, Öfverholm A, Rossing M, Wentzensen N, Henriksson K, Cox A, Cross S, Pasini B, Shah M, Kabisch M, Torres D, Jakubowska A, Lubinski J, Gronwald J, Agnarsson B, Kupryjanczyk J, Moes-Sosnowska J, Fostira F, Konstantopoulou I, Slager S, Jones M, in the genome P, Antoniou A, Berchuck A, Swerdlow A, Chenevix-Trench G, Dunning A, Pharoah P, Hall P, Easton D, Couch F, Spurdle A, Goldgar D. BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. Journal Of The National Cancer Institute 2015, 108: djv315. PMID: 26586665, PMCID: PMC4907358, DOI: 10.1093/jnci/djv315.Peer-Reviewed Original ResearchConceptsOvarian cancerBreast cancerVariant carriersCancer riskEstrogen receptor-negative breast cancerReceptor-negative breast cancerCancer case patientsInvasive ovarian cancerHormone-related cancersProstate cancer riskConfidence intervalsOvarian cancer riskSignificant inverse associationCox proportional hazardsSerous ovarian cancerRisk of breastBRCA1 mutation carriersPathogenic BRCA2 variantsControl patientsCase patientsInverse associationOdds ratioProstate cancerMutation carriersProportional hazards
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
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 studyAssociation 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
2011
Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting Genes
Rebbeck T, Mitra N, Domchek S, Wan F, Friebel T, Tran T, Singer C, Tea M, Blum J, Tung N, Olopade O, Weitzel J, Lynch H, Snyder C, Garber J, Antoniou A, Peock S, Evans D, Paterson J, Kennedy M, Donaldson A, Dorkins H, Easton D, Rubinstein W, Daly M, Isaacs C, Nevanlinna H, Couch F, Andrulis I, Freidman E, Laitman Y, Ganz P, Tomlinson G, Neuhausen S, Narod S, Phelan C, Greenberg R, Nathanson K. Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting Genes. Cancer Research 2011, 71: 5792-5805. PMID: 21799032, PMCID: PMC3170727, DOI: 10.1158/0008-5472.can-11-0773.Peer-Reviewed Original ResearchConceptsOvarian cancer riskCancer riskAssociation of haplotypesAssociated with ovarian cancer riskBreast cancerBRCA1 mutationsModifiers of cancer riskFalse discovery rateEncode proteinsBRCA1-associated breast cancerElevated cancer riskBRCA1 mutation carriersInherited BRCA1 mutationsOvarian cancer diagnosisSignificant false discovery rateAssociated with timeCancer diagnosisMutation carriersGenomic variationMultiple lociBRCA1BRCC45BreastCancerGenesCommon 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 factorsBRCA1/2
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 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