2024
Pregnancy-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-Wide Association StudyGenome, HumanHumansMiddle 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
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
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