2020
Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
Zhang H, Ahearn TU, Lecarpentier J, Barnes D, Beesley J, Qi G, Jiang X, O’Mara T, Zhao N, Bolla MK, Dunning AM, Dennis J, Wang Q, Ful ZA, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Arun BK, Auer PL, Azzollini J, Barrowdale D, Becher H, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bialkowska K, Blanco A, Blomqvist C, Bogdanova NV, Bojesen SE, Bonanni B, Bondavalli D, Borg A, Brauch H, Brenner H, Briceno I, Broeks A, Brucker SY, Brüning T, Burwinkel B, Buys SS, Byers H, Caldés T, Caligo MA, Calvello M, Campa D, Castelao JE, Chang-Claude J, Chanock SJ, Christiaens M, Christiansen H, Chung WK, Claes KBM, Clarke CL, Cornelissen S, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Diez O, Domchek SM, Dörk T, Dwek M, Eccles DM, Ekici AB, Evans DG, Fasching PA, Figueroa J, Foretova L, Fostira F, Friedman E, Frost D, Gago-Dominguez M, Gapstur SM, Garber J, García-Sáenz JA, Gaudet MM, Gayther SA, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Gronwald J, Guénel P, Häberle L, Hahnen E, Haiman CA, Hake CR, Hall P, Hamann U, Harkness EF, Heemskerk-Gerritsen BAM, Hillemanns P, Hogervorst FBL, Holleczek B, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Howell A, Huebner H, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Jager A, Jakimovska M, Jakubowska A, James P, Janavicius R, Janni W, John E, Jones M, Jung A, Kaaks R, Kapoor P, Karlan B, Keeman R, Khan S, Khusnutdinova E, Kitahara C, Ko Y, Konstantopoulou I, Koppert L, Koutros S, Kristensen V, Laenkholm A, Lambrechts D, Larsson S, Laurent-Puig P, Lazaro C, Lazarova E, Lejbkowicz F, Leslie G, Lesueur F, Lindblom A, Lissowska J, Lo W, Loud J, Lubinski J, Lukomska A, MacInnis R, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez M, Matricardi L, McGuffog L, McLean C, Mebirouk N, Meindl A, Menon U, Miller A, Mingazheva E, Montagna M, Mulligan A, Mulot C, Muranen T, Nathanson K, Neuhausen S, Nevanlinna H, Neven P, Newman W, Nielsen F, Nikitina-Zake L, Nodora J, Offit K, Olah E, Olopade O, Olsson H, Orr N, Papi L, Papp J, Park-Simon T, Parsons M, Peissel B, Peixoto A, Peshkin B, Peterlongo P, Peto J, Phillips K, Piedmonte M, Plaseska-Karanfilska D, Prajzendanc K, Prentice R, Prokofyeva D, Rack B, Radice P, Ramus S, Rantala J, Rashid M, Rennert G, Rennert H, Risch H, Romero A, Rookus M, Rübner M, Rüdiger T, Saloustros E, Sampson S, Sandler D, Sawyer E, Scheuner M, Schmutzler R, Schneeweiss A, Schoemaker M, Schöttker B, Schürmann P, Senter L, Sharma P, Sherman M, Shu X, Singer C, Smichkoska S, Soucy P, Southey M, Spinelli J, Stone J, Stoppa-Lyonnet D, Swerdlow A, Szabo C, Tamimi R, Tapper W, Taylor J, Teixeira M, Terry M, Thomassen M, Thull D, Tischkowitz M, Toland A, Tollenaar R, Tomlinson I, Torres D, Troester M, Truong T, Tung N, Untch M, Vachon C, van den Ouweland A, van der Kolk L, van Veen E, vanRensburg E, Vega A, Wappenschmidt B, Weinberg C, Weitzel J, Wildiers H, Winqvist R, Wolk A, Yang X, Yannoukakos D, Zheng W, Zorn K, Milne R, Kraft P, Simard J, Pharoah P, Michailidou K, Antoniou A, Schmidt M, Chenevix-Trench G, Easton D, Chatterjee N, García-Closas M. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses. Nature Genetics 2020, 52: 572-581. PMID: 32424353, PMCID: PMC7808397, DOI: 10.1038/s41588-020-0609-2.Peer-Reviewed Original ResearchConceptsSusceptibility lociAssociation studiesGenome-wide association studiesCell-specific enhancerWide association studyNovel breast cancer susceptibility lociNovel susceptibility lociBasal mammary cellsBreast cancer susceptibility lociCancer susceptibility lociTriple-negative diseaseCancer susceptibility variantsChip heritabilityNovel lociPolygenic risk scoresSilico analysisLociSusceptibility variantsGenetic correlationsRisk scoreMammary cellsHuman epidermal growth factor receptor 2 (HER2) statusEpidermal growth factor receptor 2 statusBreast cancer susceptibility variantsEuropean ancestry
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