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
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
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