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
2013
Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer
Purrington K, Slager S, Eccles D, Yannoukakos D, Fasching P, Miron P, Carpenter J, Chang-Claude J, Martin N, Montgomery G, Kristensen V, Anton-Culver H, Goodfellow P, Tapper W, Rafiq S, Gerty S, Durcan L, Konstantopoulou I, Fostira F, Vratimos A, Apostolou P, Konstanta I, Kotoula V, Lakis S, Dimopoulos M, Skarlos D, Pectasides D, Fountzilas G, Beckmann M, Hein A, Ruebner M, Ekici A, Hartmann A, Schulz-Wendtland R, Renner S, Janni W, Rack B, Scholz C, Neugebauer J, Andergassen U, Lux M, Haeberle L, Clarke C, Pathmanathan N, Rudolph A, Flesch-Janys D, Nickels S, Olson J, Ingle J, Olswold C, Slettedahl S, Eckel-Passow J, Anderson S, Visscher D, Cafourek V, Sicotte H, Prodduturi N, Weiderpass E, Bernstein L, Ziogas A, Ivanovich J, Giles G, Baglietto L, Southey M, Kosma V, Fischer H, Network T, Reed M, Cross S, Deming-Halverson S, Shrubsole M, Cai Q, Shu X, Daly M, Weaver J, Ross E, Klemp J, Sharma P, Torres D, Rüdiger T, Wölfing H, Ulmer H, Försti A, Khoury T, Kumar S, Pilarski R, Shapiro C, Greco D, Heikkilä P, Aittomäki K, Blomqvist C, Irwanto A, Liu J, Pankratz V, Wang X, Severi G, Mannermaa A, Easton D, Hall P, Brauch H, Cox A, Zheng W, Godwin A, Hamann U, Ambrosone C, Toland A, Nevanlinna H, Vachon C, Couch F. Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer. Carcinogenesis 2013, 35: 1012-1019. PMID: 24325915, PMCID: PMC4004200, DOI: 10.1093/carcin/bgt404.Peer-Reviewed Original ResearchConceptsTN breast cancerTriple-negative breast cancerBreast cancerBreast cancer susceptibility lociRisk factorsPolygenic risk scoresSingle nucleotide polymorphismsGenome-wide association studiesBreast cancer riskCancer susceptibility lociBreast cancer risk predictionGenetic risk factorsCancer risk predictionAbsolute riskAggressive subtypeAssociation studiesTwo-stage genome-wide association studyCancer riskRisk scoreSusceptibility lociGenome-wide significant associationSignificant associationCancerBreast cancer risk variantsPTHLH locus
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