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