2024
Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction
Yiangou K, Mavaddat N, Dennis J, Zanti M, Wang Q, Bolla M, Abubakar M, Ahearn T, Andrulis I, Anton-Culver H, Antonenkova N, Arndt V, Aronson K, Augustinsson A, Baten A, Behrens S, Bermisheva M, de Gonzalez A, Białkowska K, Boddicker N, Bodelon C, Bogdanova N, Bojesen S, Brantley K, Brauch H, Brenner H, Camp N, Canzian F, Castelao J, Cessna M, Chang-Claude J, Chenevix-Trench G, Chung W, Colonna S, Couch F, Cox A, Cross S, Czene K, Daly M, Devilee P, Dörk T, Dunning A, Eccles D, Eliassen A, Engel C, Eriksson M, Evans D, Fasching P, Fletcher O, Flyger H, Fritschi L, Gago-Dominguez M, Gentry-Maharaj A, González-Neira A, Guénel P, Hahnen E, Haiman C, Hamann U, Hartikainen J, Ho V, Hodge J, Hollestelle A, Honisch E, Hooning M, Hoppe R, Hopper J, Howell S, Howell A, Jakovchevska S, Jakubowska A, Jernström H, Johnson N, Kaaks R, Khusnutdinova E, Kitahara C, Koutros S, Kristensen V, Lacey J, Lambrechts D, Lejbkowicz F, Lindblom A, Lush M, Mannermaa A, Mavroudis D, Menon U, Murphy R, Nevanlinna H, Obi N, Offit K, Park-Simon T, Patel A, Peng C, Peterlongo P, Pita G, Plaseska-Karanfilska D, Pylkäs K, Radice P, Rashid M, Rennert G, Roberts E, Rodriguez J, Romero A, Rosenberg E, Saloustros E, Sandler D, Sawyer E, Schmutzler R, Scott C, Shu X, Southey M, Stone J, Taylor J, Teras L, van de Beek I, Willett W, Winqvist R, Zheng W, Vachon C, Schmidt M, Hall P, MacInnis R, Milne R, Pharoah P, Simard J, Antoniou A, Easton D, Michailidou K. Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction. Breast Cancer Research 2024, 26: 189. PMID: 39734228, PMCID: PMC11682615, DOI: 10.1186/s13058-024-01947-x.Peer-Reviewed Original ResearchConceptsBreast Cancer Association ConsortiumBreast cancer risk predictionCancer risk predictionBreast cancer diagnosisEuropean ancestry populationsUK BiobankAncestry populationsBreast cancer risk estimationCancer diagnosisRisk predictionRisk estimatesPrincipal component adjustmentPolygenic risk scoresCancer risk estimatesCountry of birthInfluence risk estimatesRisk categoriesEuropean populationsOverestimation of riskEuropean ancestryUnderestimation of riskRisk scorePredicted riskEuropean countriesGenotype data
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, CollĂ©e 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, GarcĂa-Closas M, GarcĂa-Sáenz J, Giles G, Goldgar D, González-Neira A, Haiman C, HĂĄkansson 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, LubiĹ„ski 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, KĂĄresen R, Schlichting E, Holmen M, Sauer T, Haakensen V, EngebrĂĄten O, Naume B, FossĂĄ A, Kiserud C, Reinertsen K, Helland Ă…, 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
Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis
Shu X, Wu L, Khankari N, Shu X, Wang T, Michailidou K, Bolla M, Wang Q, Dennis J, Milne R, Schmidt M, Pharoah P, Andrulis I, Hunter D, Simard J, Easton D, Zheng W, Alicia B, Anton-Culver H, Antonenkova N, Arndt V, Aronson K, Auer P, Barrdahl M, Baynes C, Freeman L, Beckmann M, Behrens S, Benitez J, Bermisheva M, Blomqvist C, Bogdanova N, Bojesen S, Brauch H, Brenner H, Brinton L, Broberg P, Brucker S, BrĂĽning T, Burwinkel B, Cai Q, CaldĂ©s T, Canzian F, Carter B, Castelao J, Chang-Claude J, Chenevix-Trench G, Cheng T, Clarke C, Conroy D, Couch F, Cox D, Cox A, Cross S, Cunningham J, Czene K, Daly M, Doheny K, Dörk T, dos-Santos-Silva I, Dumont M, Dunning A, Dwek M, Earp H, Eccles D, Eliassen A, Engel C, Eriksson M, Evans D, Fachal L, Fasching P, Figueroa J, Fletcher O, Flyger H, Fritschi L, Gabrielson M, Gago-Dominguez M, Gapstur S, GarcĂa-Closas M, Gaudet M, Ghoussaini M, Giles G, Goldberg M, Goldgar D, González-Neira A, GuĂ©nel P, Hahnen E, Haiman C, HĂĄkansson N, Hall P, Hallberg E, Hamann U, Harrington P, He W, Hein A, Hicks B, Hillemanns P, Hogervorst F, Hollestelle A, Hoover R, Hopper J, Howell A, Huang G, Jakubowska A, Janni W, John E, Johnson N, Jones K, Jung A, Kaaks R, Kabisch M, Kerin M, Khusnutdinova E, Kitahara C, Kosma V, Koutros S, Kraft P, Kristensen V, Lambrechts D, Le Marchand L, Lindström S, Linet M, Lissowska J, Loibl S, Lubinski J, Luccarini C, Lux M, Maishman T, Kostovska I, Mannermaa A, Manoukian S, Manson J, Margolin S, Mavroudis D, Meijers-Heijboer H, Meindl A, Menon U, Meyer J, Mulligan A, Neuhausen S, Nevanlinna H, Neven P, Newman W, Nielsen S, Nordestgaard B, Olopade O, Olshan A, Olson J, Olsson H, Olswold C, Orr N, Perou C, Peto J, Plaseska-Karanfilska D, Prentice R, Presneau N, Pylkäs K, Rack B, Radice P, Rahman N, Rennert G, Rennert H, Romero A, Romm J, Saloustros E, Sandler D, Sawyer E, Schmutzler R, Schneeweiss A, Scott R, Scott C, Seal S, Seynaeve C, Smeets A, Southey M, Spinelli J, Stone J, Surowy H, Swerdlow A, Tamimi R, Tapper W, Taylor J, Terry M, Tessier D, Thöne K, Tollenaar R, Torres D, Troester M, Truong T, Untch M, Vachon C, Van Den Berg D, van den Ouweland A, van Veen E, Vincent D, Waisfisz Q, Weinberg C, Wendt C, Whittemore A, Wildiers H, Winqvist R, Wolk A, Xia L, Yang X, Ziogas A, Ziv E. Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis. International Journal Of Epidemiology 2018, 48: 795-806. PMID: 30277539, PMCID: PMC6734940, DOI: 10.1093/ije/dyy201.Peer-Reviewed Original ResearchConceptsBreast cancer riskAssociated with breast cancer riskBody mass indexMendelian randomization analysisCancer riskRandomization analysisAssociation of breast cancer riskInverse associationFamily history of breast cancerGenome-wide association study consortiaAssociated with risk of type 2 diabetesBreast Cancer Association ConsortiumHistory of breast cancerFasting insulinAetiology of breast cancerType 2 diabetes riskControls of European descentRisk of type 2 diabetesWaist-hip ratioAssociation of obesityCirculating fasting insulinAssociated with riskBreast cancerIndividual-level dataGenetic instruments
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