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
2022
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
Hakkaart C, Pearson J, Marquart L, Dennis J, Wiggins G, Barnes D, Robinson B, Mace P, Aittomäki K, Andrulis I, Arun B, Azzollini J, Balmaña J, Barkardottir R, Belhadj S, Berger L, Blok M, Boonen S, Borde J, Bradbury A, Brunet J, Buys S, Caligo M, Campbell I, Chung W, Claes K, Collonge-Rame M, Cook J, Cosgrove C, Couch F, Daly M, Dandiker S, Davidson R, de la Hoya M, de Putter R, Delnatte C, Dhawan M, Diez O, Ding Y, Domchek S, Donaldson A, Eason J, Easton D, Ehrencrona H, Engel C, Evans D, Faust U, Feliubadaló L, Fostira F, Friedman E, Frone M, Frost D, Garber J, Gayther S, Gehrig A, Gesta P, Godwin A, Goldgar D, Greene M, Hahnen E, Hake C, Hamann U, Hansen T, Hauke J, Hentschel J, Herold N, Honisch E, Hulick P, Imyanitov E, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James P, Janavicius R, John E, Joseph V, Karlan B, Kemp Z, Kirk J, Konstantopoulou I, Koudijs M, Kwong A, Laitman Y, Lalloo F, Lasset C, Lautrup C, Lazaro C, Legrand C, Leslie G, Lesueur F, Mai P, Manoukian S, Mari V, Martens J, McGuffog L, Mebirouk N, Meindl A, Miller A, Montagna M, Moserle L, Mouret-Fourme E, Musgrave H, Nambot S, Nathanson K, Neuhausen S, Nevanlinna H, Yie J, Nguyen-Dumont T, Nikitina-Zake L, Offit K, Olah E, Olopade O, Osorio A, Ott C, Park S, Parsons M, Pedersen I, Peixoto A, Perez-Segura P, Peterlongo P, Pocza T, Radice P, Ramser J, Rantala J, Rodriguez G, Rønlund K, Rosenberg E, Rossing M, Schmutzler R, Shah P, Sharif S, Sharma P, Side L, Simard J, Singer C, Snape K, Steinemann D, Stoppa-Lyonnet D, Sutter C, Tan Y, Teixeira M, Teo S, Thomassen M, Thull D, Tischkowitz M, Toland A, Trainer A, Tripathi V, Tung N, van Engelen K, van Rensburg E, Vega A, Viel A, Walker L, Weitzel J, Wevers M, Chenevix-Trench G, Spurdle A, Antoniou A, Walker L. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers. Communications Biology 2022, 5: 1061. PMID: 36203093, PMCID: PMC9537519, DOI: 10.1038/s42003-022-03978-6.Peer-Reviewed Original ResearchConceptsCopy number variantsBreast cancer riskPathogenic variant carriersVariant carriersGermline copy number variantsCancer riskRisk modifier genesGenome-wide analysisBRCA1 pathogenic variant carriersModifiers of breast cancer riskDNA-damaging agentsBRCA2 pathogenic variant carriersDecreased breast cancer riskBreast cancer risk estimationDeleterious variantsBRCA2 variantsPathogenic BRCA1Pathogenic variantsReduced mRNA expressionDamaging agentsAssociated with reduced cellular proliferationBRCA1Variant cellsBRCA1 carriersCancer risk estimates
2007
AURKA F31I Polymorphism and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers: A Consortium of Investigators of Modifiers of BRCA1/2 Study
Couch F, Sinilnikova O, Vierkant R, Pankratz V, Fredericksen Z, Stoppa-Lyonnet D, Coupier I, Hughes D, Hardouin A, Berthet P, Peock S, Cook M, Baynes C, Hodgson S, Morrison P, Porteous M, Jakubowska A, Lubinski J, Gronwald J, Spurdle A, kConFab, Schmutzler R, Versmold B, Engel C, Meindl A, Sutter C, Horst J, Schaefer D, Offit K, Kirchhoff T, Andrulis I, Ilyushik E, Glendon G, Devilee P, Vreeswijk M, Vasen H, Borg A, Backenhorn K, Struewing J, Greene M, Neuhausen S, Rebbeck T, Nathanson K, Domchek S, Wagner T, Garber J, Szabo C, Zikan M, Foretova L, Olson J, Sellers T, Lindor N, Nevanlinna H, Tommiska J, Aittomaki K, Hamann U, Rashid M, Torres D, Simard J, Durocher F, Guenard F, Lynch H, Isaacs C, Weitzel J, Olopade O, Narod S, Daly M, Godwin A, Tomlinson G, Easton D, Chenevix-Trench G, Antoniou A, behalf of the Consortium of Investigators of Modifiers of BRCA1/2 O. AURKA F31I Polymorphism and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers: A Consortium of Investigators of Modifiers of BRCA1/2 Study. Cancer Epidemiology Biomarkers & Prevention 2007, 16: 1416-1421. PMID: 17627006, PMCID: PMC2775799, DOI: 10.1158/1055-9965.epi-07-0129.Peer-Reviewed Original ResearchConceptsBRCA2 mutation carriersBreast cancer riskAssociated with breast cancer riskConsortium of Investigators of Modifiers of BRCA1/2BRCA2 carriersF31I polymorphismMutation carriersCancer riskModify risk of breast cancerRisk of breast cancerBreast cancer risk estimationModifiers of cancer riskAmplification of AURKABilateral prophylactic oophorectomyInactivation of BRCA1Sporadic breast tumorsPredisposition to cancerBRCA2 mutationsProphylactic oophorectomyCancer risk estimatesMenopausal statusBreast tumorsBreast cancerBRCA2Abnormal chromosome segregation
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