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
2021
Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
Coignard J, Lush M, Beesley J, O’Mara T, Dennis J, Tyrer J, Barnes D, McGuffog L, Leslie G, Bolla M, Adank M, Agata S, Ahearn T, Aittomäki K, Andrulis I, Anton-Culver H, Arndt V, Arnold N, Aronson K, Arun B, Augustinsson A, Azzollini J, Barrowdale D, Baynes C, Becher H, Bermisheva M, Bernstein L, Białkowska K, Blomqvist C, Bojesen S, Bonanni B, Borg A, Brauch H, Brenner H, Burwinkel B, Buys S, Caldés T, Caligo M, Campa D, Carter B, Castelao J, Chang-Claude J, Chanock S, Chung W, Claes K, Clarke C, Collée J, Conroy D, Czene K, Daly M, Devilee P, Diez O, Ding Y, Domchek S, Dörk T, dos-Santos-Silva I, Dunning A, Dwek M, Eccles D, Eliassen A, Engel C, Eriksson M, Evans D, Fasching P, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gago-Dominguez M, Gapstur S, Garber J, Garcia-Barberan V, García-Closas M, García-Sáenz J, Gaudet M, Gayther S, Gehrig A, Georgoulias V, Giles G, Godwin A, Goldberg M, Goldgar D, González-Neira A, Greene M, Guénel P, Haeberle L, Hahnen E, Haiman C, Håkansson N, Hall P, Hamann U, Harrington P, Hart S, He W, Hogervorst F, Hollestelle A, Hopper J, Horcasitas D, Hulick P, Hunter D, Imyanitov E, Jager A, Jakubowska A, James P, Jensen U, John E, Jones M, Kaaks R, Kapoor P, Karlan B, Keeman R, Khusnutdinova E, Kiiski J, Ko Y, Kosma V, Kraft P, Kurian A, Laitman Y, Lambrechts D, Le Marchand L, Lester J, Lesueur F, Lindstrom T, Lopez-Fernández A, Loud J, Luccarini C, Mannermaa A, Manoukian S, Margolin S, Martens J, Mebirouk N, Meindl A, Miller A, Milne R, Montagna M, Nathanson K, Neuhausen S, Nevanlinna H, Nielsen F, O’Brien K, Olopade O, Olson J, Olsson H, Osorio A, Ottini L, Park-Simon T, Parsons M, Pedersen I, Peshkin B, Peterlongo P, Peto J, Pharoah P, Phillips K, Polley E, Poppe B, Presneau N, Pujana M, Punie K, Radice P, Rantala J, Rashid M, Rennert G, Rennert H, Robson M, Romero A, Rossing M, Saloustros E, Sandler D, Santella R, Scheuner M, Schmidt M, Schmidt G, Scott C, Sharma P, Soucy P, Southey M, Spinelli J, Steinsnyder Z, Stone J, Stoppa-Lyonnet D, Swerdlow A, Tamimi R, Tapper W, Taylor J, Terry M, Teulé A, Thull D, Tischkowitz M, Toland A, Torres D, Trainer A, Truong T, Tung N, Vachon C, Vega A, Vijai J, Wang Q, Wappenschmidt B, Weinberg C, Weitzel J, Wendt C, Wolk A, Yadav S, Yang X, Yannoukakos D, Zheng W, Ziogas A, Zorn K, Park S, Thomassen M, Offit K, Schmutzler R, Couch F, Simard J, Chenevix-Trench G, Easton D, Andrieu N, Antoniou A. Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. Nature Communications 2021, 12: 2986. PMID: 33990587, PMCID: PMC8121813, DOI: 10.1038/s41467-021-23162-4.Peer-Reviewed Original Research