2024
Menopausal hormone therapy: assessing associations with breast and colorectal cancers by familial risk
Macinnis R, Jenkins M, Milne R, John E, Daly M, Andrulis I, Colonna S, Phillips K, Investigators K, Le Marchand L, Newcomb P, Phipps A, Schmit S, Macrae F, Buchanan D, Gallinger S, Pai R, Samadder N, Giles G, Southey M, Hopper J, Terry M. Menopausal hormone therapy: assessing associations with breast and colorectal cancers by familial risk. JNCI Cancer Spectrum 2024, pkae121. PMID: 39673461, DOI: 10.1093/jncics/pkae121.Peer-Reviewed Original ResearchFamily risk scoreMenopausal hormone therapyFamilial riskHazard ratioColorectal cancerFamilial risk of BCBreast cancerFamily historyDecreased colorectal cancerCancer family historyRisk of BCIncreased breast cancerAssociated with breastIncident BCNever usersGeneral populationRisk scoreHarmonized dataWomenHormone therapyRiskAssociationCancerNeverCohortPregnancy-Related Factors and Breast Cancer Risk for Women Across a Range of Familial Risk
McDonald J, Liao Y, Knight J, John E, Kurian A, Daly M, Buys S, Huang Y, Frost C, Andrulis I, Colonna S, Friedlander M, Hopper J, Chung W, Genkinger J, MacInnis R, Terry M, 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, Gallego 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. Pregnancy-Related Factors and Breast Cancer Risk for Women Across a Range of Familial Risk. JAMA Network Open 2024, 7: e2427441. PMID: 39186276, DOI: 10.1001/jamanetworkopen.2024.27441.Peer-Reviewed Original ResearchConceptsPregnancy-related factorsFull-term pregnancyBC riskNulliparous womenProspective Family Study CohortBreast Cancer Family RegistryBreast cancerBC diagnosisER-negative BCCohort studyHazard ratioCancer Family RegistryBreast cancer riskPersonal history of BCBC family historyCohort study of womenHistory of BCCohort of womenCox proportional hazards regression modelsProportional hazards regression modelsStudy of womenER-negative diseaseFamily RegistryHazards regression modelsScreening guidelines
2020
Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk
Kramer I, Hooning M, Mavaddat N, Hauptmann M, Keeman R, Steyerberg E, Giardiello D, Antoniou A, Pharoah P, Canisius S, Abu-Ful Z, Andrulis I, Anton-Culver H, Aronson K, Augustinsson A, Becher H, Beckmann M, Behrens S, Benitez J, Bermisheva M, Bogdanova N, Bojesen S, Bolla M, Bonanni B, Brauch H, Bremer M, Brucker S, Burwinkel B, Castelao J, Chan T, Chang-Claude J, Chanock S, Chenevix-Trench G, Choi J, Clarke C, Collée J, Couch F, Cox A, Cross S, Czene K, Daly M, Devilee P, Dörk T, dos-Santos-Silva I, Dunning A, Dwek M, Eccles D, Evans D, Fasching P, Flyger H, Gago-Dominguez M, García-Closas M, García-Sáenz J, Giles G, Goldgar D, González-Neira A, Haiman C, Håkansson N, Hamann U, Hartman M, Heemskerk-Gerritsen B, Hollestelle A, Hopper J, Hou M, Howell A, Ito H, Jakimovska M, Jakubowska A, Janni W, John E, Jung A, Kang D, Kets C, Khusnutdinova E, Ko Y, Kristensen V, Kurian A, Kwong A, Lambrechts D, Le Marchand L, Li J, Lindblom A, Lubiński J, Mannermaa A, Manoochehri M, Margolin S, Matsuo K, Mavroudis D, Meindl A, Milne R, Mulligan A, Muranen T, Neuhausen S, Nevanlinna H, Newman W, Olshan A, Olson J, Olsson H, Park-Simon T, Peto J, Petridis C, Plaseska-Karanfilska D, Presneau N, Pylkäs K, Radice P, Rennert G, Romero A, Roylance R, Saloustros E, Sawyer E, Schmutzler R, Schwentner L, Scott R, See M, Shah M, Shen C, Shu X, Siesling S, Slager S, Sohn C, Southey M, Spinelli J, Stone J, Tapper W, Tengström M, Teo S, Terry M, Tollenaar R, Tomlinson I, Troester M, Vachon C, van Ongeval C, van Veen E, Winqvist R, Wolk A, Zheng W, Ziogas A, Easton D, Hall P, Schmidt M, Børresen-Dale A, Sahlberg K, Ottestad L, Kåresen R, Schlichting E, Holmen M, Sauer T, Haakensen V, Engebråten O, Naume B, Fosså A, Kiserud C, Reinertsen K, Helland Å, Riis M, Geisler J, Alnæs G, Clarke C, Marsh D, Scott C, Baxter R, Yip D, Carpenter J, Davis A, Pathmanathan N, Simpson P, Graham J, Sachchithananthan M, Amor D, Andrews L, Antill Y, Balleine R, Beesley J, Bennett I, Bogwitz M, Botes L, Brennan M, Brown M, Buckley M, Burke J, Butow P, Caldon L, Campbell I, Chauhan D, Chauhan M, Chenevix-Trench G, Christian A, Cohen P, Colley A, Crook A, Cui J, Cummings M, Dawson S, deFazio A, Delatycki M, Dickson R, Dixon J, Edkins T, 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, Hayward N, Hopper J, Hoskins C, Hunt C, James P, Jenkins M, Kidd A, Kirk J, Koehler J, Kollias J, Lakhani S, Lawrence M, Lindeman G, Lipton L, Lobb L, Mann G, Marsh D, McLachlan S, Meiser B, Milne R, Nightingale S, O'Connell S, O'Sullivan S, Ortega D, Pachter N, Patterson B, Pearn A, Phillips K, Pieper E, Rickard E, Robinson B, Saleh M, Salisbury E, Saunders C, Saunus J, Scott C, Scott C, Sexton A, Shelling A, 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. Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk. American Journal Of Human Genetics 2020, 107: 837-848. PMID: 33022221, PMCID: PMC7675034, DOI: 10.1016/j.ajhg.2020.09.001.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAsian PeopleBreast NeoplasmsCohort StudiesEstrogen Receptor alphaFemaleGene ExpressionGenetic Predisposition to DiseaseGenome, HumanGenome-Wide Association StudyHumansMiddle AgedMultifactorial InheritanceNeoadjuvant TherapyNeoplasms, Second PrimaryPrognosisProportional Hazards ModelsReceptor, ErbB-2Receptors, ProgesteroneRisk AssessmentWhite PeopleConceptsContralateral breast cancerPolygenic risk scoresInvasive breast cancerCBC risk prediction modelAssociated with increased CBC riskRisk of contralateral breast cancerBreast Cancer Association ConsortiumBreast cancerWomen of European ancestryStudies of Asian womenAbsolute lifetime riskUnilateral breast cancerEvidence of confoundingRisk prediction modelFollow-upStratify womenEuropean ancestryFamily historyHazard ratioRisk scoreLogistic regressionAsian womenEuropean womenGermline variantsOptimal surveillance
2018
Prospective 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
2011
Rare 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