2021
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
2016
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
Couch F, Kuchenbaecker K, Michailidou K, Mendoza-Fandino G, Nord S, Lilyquist J, Olswold C, Hallberg E, Agata S, Ahsan H, Aittomäki K, Ambrosone C, Andrulis I, Anton-Culver H, Arndt V, Arun B, Arver B, Barile M, Barkardottir R, Barrowdale D, Beckmann L, Beckmann M, Benitez J, Blank S, Blomqvist C, Bogdanova N, Bojesen S, Bolla M, Bonanni B, Brauch H, Brenner H, Burwinkel B, Buys S, Caldes T, Caligo M, Canzian F, Carpenter J, Chang-Claude J, Chanock S, Chung W, Claes K, Cox A, Cross S, Cunningham J, Czene K, Daly M, Damiola F, Darabi H, de la Hoya M, Devilee P, Diez O, Ding Y, Dolcetti R, Domchek S, Dorfling C, dos-Santos-Silva I, Dumont M, Dunning A, Eccles D, Ehrencrona H, Ekici A, Eliassen H, Ellis S, Fasching P, Figueroa J, Flesch-Janys D, Försti A, Fostira F, Foulkes W, Friebel T, Friedman E, Frost D, Gabrielson M, Gammon M, Ganz P, Gapstur S, Garber J, Gaudet M, Gayther S, Gerdes A, Ghoussaini M, Giles G, Glendon G, Godwin A, Goldberg M, Goldgar D, González-Neira A, Greene M, Gronwald J, Guénel P, Gunter M, Haeberle L, Haiman C, Hamann U, Hansen T, Hart S, Healey S, Heikkinen T, Henderson B, Herzog J, Hogervorst F, Hollestelle A, Hooning M, Hoover R, Hopper J, Humphreys K, Hunter D, Huzarski T, Imyanitov E, Isaacs C, Jakubowska A, James P, Janavicius R, Jensen U, John E, Jones M, Kabisch M, Kar S, Karlan B, Khan S, Khaw K, Kibriya M, Knight J, Ko Y, Konstantopoulou I, Kosma V, Kristensen V, Kwong A, Laitman Y, Lambrechts D, Lazaro C, Lee E, Le Marchand L, Lester J, Lindblom A, Lindor N, Lindstrom S, Liu J, Long J, Lubinski J, Mai P, Makalic E, Malone K, Mannermaa A, Manoukian S, Margolin S, Marme F, Martens J, McGuffog L, Meindl A, Miller A, Milne R, Miron P, Montagna M, Mazoyer S, Mulligan A, Muranen T, Nathanson K, Neuhausen S, Nevanlinna H, Nordestgaard B, Nussbaum R, Offit K, Olah E, Olopade O, Olson J, Osorio A, Park S, Peeters P, Peissel B, Peterlongo P, Peto J, Phelan C, Pilarski R, Poppe B, Pylkäs K, Radice P, Rahman N, Rantala J, Rappaport C, Rennert G, Richardson A, Robson M, Romieu I, Rudolph A, Rutgers E, Sanchez M, Santella R, Sawyer E, Schmidt D, Schmidt M, Schmutzler R, Schumacher F, Scott R, Senter L, Sharma P, Simard J, Singer C, Sinilnikova O, Soucy P, Southey M, Steinemann D, Stenmark-Askmalm M, Stoppa-Lyonnet D, Swerdlow A, Szabo C, Tamimi R, Tapper W, Teixeira M, Teo S, Terry M, Thomassen M, Thompson D, Tihomirova L, Toland A, Tollenaar R, Tomlinson I, Truong T, Tsimiklis H, Teulé A, Tumino R, Tung N, Turnbull C, Ursin G, van Deurzen C, van Rensburg E, Varon-Mateeva R, Wang Z, Wang-Gohrke S, Weiderpass E, Weitzel J, Whittemore A, Wildiers H, Winqvist R, Yang X, Yannoukakos D, Yao S, Zamora M, Zheng W, Hall P, Kraft P, Vachon C, Slager S, Chenevix-Trench G, Pharoah P, Monteiro A, García-Closas M, Easton D, Antoniou A. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. Nature Communications 2016, 7: 11375. PMID: 27117709, PMCID: PMC4853421, DOI: 10.1038/ncomms11375.Peer-Reviewed Original ResearchConceptsGenome-wide significant associationGenome-wide association studiesBreast cancer risk lociSusceptibility lociCancer risk lociNovel susceptibility lociEQTL studiesICOGS arrayRisk lociAssociation studiesUnidentified locusLociPPIL3WDR43Common variantsNegative breast cancerFamilial relative riskCancer etiologyER-negative casesTRMT61BEstrogen receptor-negative breast cancerER-negative breast cancerKLF5BRCA1Breast cancer