2022
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
Hakkaart C, Pearson J, Marquart L, Dennis J, Wiggins G, Barnes D, Robinson B, Mace P, Aittomäki K, Andrulis I, Arun B, Azzollini J, Balmaña J, Barkardottir R, Belhadj S, Berger L, Blok M, Boonen S, Borde J, Bradbury A, Brunet J, Buys S, Caligo M, Campbell I, Chung W, Claes K, Collonge-Rame M, Cook J, Cosgrove C, Couch F, Daly M, Dandiker S, Davidson R, de la Hoya M, de Putter R, Delnatte C, Dhawan M, Diez O, Ding Y, Domchek S, Donaldson A, Eason J, Easton D, Ehrencrona H, Engel C, Evans D, Faust U, Feliubadaló L, Fostira F, Friedman E, Frone M, Frost D, Garber J, Gayther S, Gehrig A, Gesta P, Godwin A, Goldgar D, Greene M, Hahnen E, Hake C, Hamann U, Hansen T, Hauke J, Hentschel J, Herold N, Honisch E, Hulick P, Imyanitov E, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James P, Janavicius R, John E, Joseph V, Karlan B, Kemp Z, Kirk J, Konstantopoulou I, Koudijs M, Kwong A, Laitman Y, Lalloo F, Lasset C, Lautrup C, Lazaro C, Legrand C, Leslie G, Lesueur F, Mai P, Manoukian S, Mari V, Martens J, McGuffog L, Mebirouk N, Meindl A, Miller A, Montagna M, Moserle L, Mouret-Fourme E, Musgrave H, Nambot S, Nathanson K, Neuhausen S, Nevanlinna H, Yie J, Nguyen-Dumont T, Nikitina-Zake L, Offit K, Olah E, Olopade O, Osorio A, Ott C, Park S, Parsons M, Pedersen I, Peixoto A, Perez-Segura P, Peterlongo P, Pocza T, Radice P, Ramser J, Rantala J, Rodriguez G, Rønlund K, Rosenberg E, Rossing M, Schmutzler R, Shah P, Sharif S, Sharma P, Side L, Simard J, Singer C, Snape K, Steinemann D, Stoppa-Lyonnet D, Sutter C, Tan Y, Teixeira M, Teo S, Thomassen M, Thull D, Tischkowitz M, Toland A, Trainer A, Tripathi V, Tung N, van Engelen K, van Rensburg E, Vega A, Viel A, Walker L, Weitzel J, Wevers M, Chenevix-Trench G, Spurdle A, Antoniou A, Walker L. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers. Communications Biology 2022, 5: 1061. PMID: 36203093, PMCID: PMC9537519, DOI: 10.1038/s42003-022-03978-6.Peer-Reviewed Original ResearchConceptsCopy number variantsBreast cancer riskPathogenic variant carriersVariant carriersGermline copy number variantsCancer riskRisk modifier genesGenome-wide analysisBRCA1 pathogenic variant carriersModifiers of breast cancer riskDNA-damaging agentsBRCA2 pathogenic variant carriersDecreased breast cancer riskBreast cancer risk estimationDeleterious variantsBRCA2 variantsPathogenic BRCA1Pathogenic variantsReduced mRNA expressionDamaging agentsAssociated with reduced cellular proliferationBRCA1Variant cellsBRCA1 carriersCancer risk estimates
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
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 dataBRCA1BRCA2BNC2Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
Couch F, Kuchenbaecker K, Michailidou K, Mendoza-Fandino G, Nord S, Lilyquist J, Olswold C, Hallberg E, Agata S, Ahsan H, Aittomäki K, Ambrosone C, Andrulis I, Anton-Culver H, Arndt V, Arun B, Arver B, Barile M, Barkardottir R, Barrowdale D, Beckmann L, Beckmann M, Benitez J, Blank S, Blomqvist C, Bogdanova N, Bojesen S, Bolla M, Bonanni B, Brauch H, Brenner H, Burwinkel B, Buys S, Caldes T, Caligo M, Canzian F, Carpenter J, Chang-Claude J, Chanock S, Chung W, Claes K, Cox A, Cross S, Cunningham J, Czene K, Daly M, Damiola F, Darabi H, de la Hoya M, Devilee P, Diez O, Ding Y, Dolcetti R, Domchek S, Dorfling C, dos-Santos-Silva I, Dumont M, Dunning A, Eccles D, Ehrencrona H, Ekici A, Eliassen H, Ellis S, Fasching P, Figueroa J, Flesch-Janys D, Försti A, Fostira F, Foulkes W, Friebel T, Friedman E, Frost D, Gabrielson M, Gammon M, Ganz P, Gapstur S, Garber J, Gaudet M, Gayther S, Gerdes A, Ghoussaini M, Giles G, Glendon G, Godwin A, Goldberg M, Goldgar D, González-Neira A, Greene M, Gronwald J, Guénel P, Gunter M, Haeberle L, Haiman C, Hamann U, Hansen T, Hart S, Healey S, Heikkinen T, Henderson B, Herzog J, Hogervorst F, Hollestelle A, Hooning M, Hoover R, Hopper J, Humphreys K, Hunter D, Huzarski T, Imyanitov E, Isaacs C, Jakubowska A, James P, Janavicius R, Jensen U, John E, Jones M, Kabisch M, Kar S, Karlan B, Khan S, Khaw K, Kibriya M, Knight J, Ko Y, Konstantopoulou I, Kosma V, Kristensen V, Kwong A, Laitman Y, Lambrechts D, Lazaro C, Lee E, Le Marchand L, Lester J, Lindblom A, Lindor N, Lindstrom S, Liu J, Long J, Lubinski J, Mai P, Makalic E, Malone K, Mannermaa A, Manoukian S, Margolin S, Marme F, Martens J, McGuffog L, Meindl A, Miller A, Milne R, Miron P, Montagna M, Mazoyer S, Mulligan A, Muranen T, Nathanson K, Neuhausen S, Nevanlinna H, Nordestgaard B, Nussbaum R, Offit K, Olah E, Olopade O, Olson J, Osorio A, Park S, Peeters P, Peissel B, Peterlongo P, Peto J, Phelan C, Pilarski R, Poppe B, Pylkäs K, Radice P, Rahman N, Rantala J, Rappaport C, Rennert G, Richardson A, Robson M, Romieu I, Rudolph A, Rutgers E, Sanchez M, Santella R, Sawyer E, Schmidt D, Schmidt M, Schmutzler R, Schumacher F, Scott R, Senter L, Sharma P, Simard J, Singer C, Sinilnikova O, Soucy P, Southey M, Steinemann D, Stenmark-Askmalm M, Stoppa-Lyonnet D, Swerdlow A, Szabo C, Tamimi R, Tapper W, Teixeira M, Teo S, Terry M, Thomassen M, Thompson D, Tihomirova L, Toland A, Tollenaar R, Tomlinson I, Truong T, Tsimiklis H, Teulé A, Tumino R, Tung N, Turnbull C, Ursin G, van Deurzen C, van Rensburg E, Varon-Mateeva R, Wang Z, Wang-Gohrke S, Weiderpass E, Weitzel J, Whittemore A, Wildiers H, Winqvist R, Yang X, Yannoukakos D, Yao S, Zamora M, Zheng W, Hall P, Kraft P, Vachon C, Slager S, Chenevix-Trench G, Pharoah P, Monteiro A, García-Closas M, Easton D, Antoniou A. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. Nature Communications 2016, 7: 11375. PMID: 27117709, PMCID: PMC4853421, DOI: 10.1038/ncomms11375.Peer-Reviewed Original ResearchConceptsGenome-wide significant associationGenome-wide association studiesBreast cancer risk lociSusceptibility lociCancer risk lociNovel susceptibility lociEQTL studiesICOGS arrayRisk lociAssociation studiesUnidentified locusLociPPIL3WDR43Common variantsNegative breast cancerFamilial relative riskCancer etiologyER-negative casesTRMT61BEstrogen receptor-negative breast cancerER-negative breast cancerKLF5BRCA1Breast cancer
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
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 lociBRCA1BRCC45BreastCancerGenes
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
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
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