Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element
Baxter J, Johnson N, Tomczyk K, Gillespie A, Maguire S, Brough R, Fachal L, Michailidou K, Bolla M, Wang Q, Dennis J, Ahearn T, Andrulis I, Anton-Culver H, Antonenkova N, Arndt V, Aronson K, Augustinsson A, Becher H, Beckmann M, Behrens S, Benitez J, Bermisheva M, Bogdanova N, Bojesen S, Brenner H, Brucker S, Cai Q, Campa D, Canzian F, Castelao J, Chan T, Chang-Claude J, Chanock S, Chenevix-Trench G, Choi J, Clarke C, Collaborators N, Colonna S, Conroy D, Couch F, Cox A, Cross S, Czene K, Daly M, Devilee P, Dörk T, Dossus L, Dwek M, Eccles D, Ekici A, Eliassen A, Engel C, Fasching P, Figueroa J, Flyger H, Gago-Dominguez M, Gao C, García-Closas M, García-Sáenz J, Ghoussaini M, Giles G, Goldberg M, González-Neira A, Guénel P, Gündert M, Haeberle L, Hahnen E, Haiman C, Hall P, Hamann U, Hartman M, Hatse S, Hauke J, Hollestelle A, Hoppe R, Hopper J, Hou M, Investigators K, Investigators A, Ito H, Iwasaki M, Jager A, Jakubowska A, Janni W, John E, Joseph V, Jung A, Kaaks R, Kang D, Keeman R, Khusnutdinova E, Kim S, Kosma V, Kraft P, Kristensen V, Kubelka-Sabit K, Kurian A, Kwong A, Lacey J, Lambrechts D, Larson N, Larsson S, Le Marchand L, Lejbkowicz F, Li J, Long J, Lophatananon A, Lubiński J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Matsuo K, Mavroudis D, Mayes R, Menon U, Milne R, Taib N, Muir K, Muranen T, Murphy R, Nevanlinna H, O’Brien K, Offit K, Olson J, Olsson H, Park S, Park-Simon T, Patel A, Peterlongo P, Peto J, Plaseska-Karanfilska D, Presneau N, Pylkäs K, Rack B, Rennert G, Romero A, Ruebner M, Rüdiger T, Saloustros E, Sandler D, Sawyer E, Schmidt M, Schmutzler R, Schneeweiss A, Schoemaker M, Shah M, Shen C, Shu X, Simard J, Southey M, Stone J, Surowy H, Swerdlow A, Tamimi R, Tapper W, Taylor J, Teo S, Teras L, Terry M, Toland A, Tomlinson I, Truong T, Tseng C, Untch M, Vachon C, van den Ouweland A, Wang S, Weinberg C, Wendt C, Winham S, Winqvist R, Wolk A, Wu A, Yamaji T, Zheng W, Ziogas A, Pharoah P, Dunning A, Easton D, Pettitt S, Lord C, Haider S, Orr N, Fletcher O. Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element. American Journal Of Human Genetics 2021, 108: 1190-1203. PMID: 34146516, PMCID: PMC8322933, DOI: 10.1016/j.ajhg.2021.05.013.Peer-Reviewed Original ResearchConceptsBreast cancer risk lociCredible causal variantsCancer risk lociRegulatory elementsCausal variantsRisk lociCell type-specific transcriptionDeletion alleleTranscription factor binding regionsIdentified putative regulatory elementsChIP-seq dataPutative regulatory elementsCell type-specific expressionSignal 2ChIP-seqFunctional annotationStructural variantsDNase IBinding regionCRISPR assayIGFBP5 promoterEstrogen receptor-positive breast cancerReceptor-positive breast cancerRisk of estrogen receptor-positive breast cancerLoci
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