{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"bioRxiv"}],"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T14:02:45Z","timestamp":1768485765890,"version":"3.49.0"},"posted":{"date-parts":[[2019,9,24]]},"group-title":"Genetics","reference-count":47,"publisher":"openRxiv","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2019,10,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                <jats:p>\n                  Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype. To identify novel loci, we performed a genome-wide association study (GWAS) including 133,384 breast cancer cases and 113,789 controls, plus 18,908\n                  <jats:italic>BRCA1<\/jats:italic>\n                  mutation carriers (9,414 with breast cancer) of European ancestry, using both standard and novel methodologies that account for underlying tumor heterogeneity by estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2) status and tumor grade. We identified 32 novel susceptibility loci (\n                  <jats:italic>P<\/jats:italic>\n                  &lt;5.0\u00d710\n                  <jats:sup>-8<\/jats:sup>\n                  ), 15 of which showed evidence for associations with at least one tumor feature (false discovery rate &lt;0.05). Five loci showed associations (\n                  <jats:italic>P<\/jats:italic>\n                  &lt;0.05) in opposite directions between luminal- and non-luminal subtypes.\n                  <jats:italic>In-silico<\/jats:italic>\n                  analyses showed these five loci contained cell-specific enhancers that differed between normal luminal and basal mammary cells. The genetic correlations between five intrinsic-like subtypes ranged from 0.35 to 0.80. The proportion of genome-wide chip heritability explained by all known susceptibility loci was 37.6% for triple-negative and 54.2% for luminal A-like disease. These findings provide an improved understanding of genetic predisposition to breast cancer subtypes and will inform the development of subtype-specific polygenic risk scores.\n                <\/jats:p>","DOI":"10.1101\/778605","type":"posted-content","created":{"date-parts":[[2019,9,25]],"date-time":"2019-09-25T01:43:08Z","timestamp":1569375788000},"source":"Crossref","is-referenced-by-count":2,"title":["Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses"],"prefix":"10.64898","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6423-0444","authenticated-orcid":false,"given":"Haoyu","family":"Zhang","sequence":"first","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0771-7752","authenticated-orcid":false,"given":"Thomas U.","family":"Ahearn","sequence":"additional","affiliation":[]},{"given":"Julie","family":"Lecarpentier","sequence":"additional","affiliation":[]},{"given":"Daniel","family":"Barnes","sequence":"additional","affiliation":[]},{"given":"Jonathan","family":"Beesley","sequence":"additional","affiliation":[]},{"given":"Xia","family":"Jiang","sequence":"additional","affiliation":[]},{"given":"Tracy A.","family":"O\u2019Mara","sequence":"additional","affiliation":[]},{"given":"Guanghao","family":"Qi","sequence":"additional","affiliation":[]},{"given":"Ni","family":"Zhao","sequence":"additional","affiliation":[]},{"given":"Manjeet K.","family":"Bolla","sequence":"additional","affiliation":[]},{"given":"Alison M.","family":"Dunning","sequence":"additional","affiliation":[]},{"given":"Joe","family":"Dennis","sequence":"additional","affiliation":[]},{"given":"Qin","family":"Wang","sequence":"additional","affiliation":[]},{"given":"Zumuruda Abu","family":"Ful","sequence":"additional","affiliation":[]},{"given":"Kristiina","family":"Aittom\u00e4ki","sequence":"additional","affiliation":[]},{"given":"Irene L.","family":"Andrulis","sequence":"additional","affiliation":[]},{"given":"Hoda","family":"Anton-Culver","sequence":"additional","affiliation":[]},{"given":"Volker","family":"Arndt","sequence":"additional","affiliation":[]},{"given":"Kristan J.","family":"Aronson","sequence":"additional","affiliation":[]},{"given":"Banu K.","family":"Arun","sequence":"additional","affiliation":[]},{"given":"Paul L.","family":"Auer","sequence":"additional","affiliation":[]},{"given":"Jacopo","family":"Azzollini","sequence":"additional","affiliation":[]},{"given":"Daniel","family":"Barrowdale","sequence":"additional","affiliation":[]},{"given":"Heiko","family":"Becher","sequence":"additional","affiliation":[]},{"given":"Matthias W.","family":"Beckmann","sequence":"additional","affiliation":[]},{"given":"Sabine","family":"Behrens","sequence":"additional","affiliation":[]},{"given":"Javier","family":"Benitez","sequence":"additional","affiliation":[]},{"given":"Marina","family":"Bermisheva","sequence":"additional","affiliation":[]},{"given":"Katarzyna","family":"Bialkowska","sequence":"additional","affiliation":[]},{"given":"Ana","family":"Blanco","sequence":"additional","affiliation":[]},{"given":"Carl","family":"Blomqvist","sequence":"additional","affiliation":[]},{"given":"Natalia V.","family":"Bogdanova","sequence":"additional","affiliation":[]},{"given":"Stig E.","family":"Bojesen","sequence":"additional","affiliation":[]},{"given":"Bernardo","family":"Bonanni","sequence":"additional","affiliation":[]},{"given":"Davide","family":"Bondavalli","sequence":"additional","affiliation":[]},{"given":"Ake","family":"Borg","sequence":"additional","affiliation":[]},{"given":"Hiltrud","family":"Brauch","sequence":"additional","affiliation":[]},{"given":"Hermann","family":"Brenner","sequence":"additional","affiliation":[]},{"given":"Ignacio","family":"Briceno","sequence":"additional","affiliation":[]},{"given":"Annegien","family":"Broeks","sequence":"additional","affiliation":[]},{"given":"Sara Y.","family":"Brucker","sequence":"additional","affiliation":[]},{"given":"Thomas","family":"Br\u00fcning","sequence":"additional","affiliation":[]},{"given":"Barbara","family":"Burwinkel","sequence":"additional","affiliation":[]},{"given":"Saundra S.","family":"Buys","sequence":"additional","affiliation":[]},{"given":"Helen","family":"Byers","sequence":"additional","affiliation":[]},{"given":"Trinidad","family":"Cald\u00e9s","sequence":"additional","affiliation":[]},{"given":"Maria A.","family":"Caligo","sequence":"additional","affiliation":[]},{"given":"Mariarosaria","family":"Calvello","sequence":"additional","affiliation":[]},{"given":"Daniele","family":"Campa","sequence":"additional","affiliation":[]},{"given":"Jose E.","family":"Castelao","sequence":"additional","affiliation":[]},{"given":"Jenny","family":"Chang-Claude","sequence":"additional","affiliation":[]},{"given":"Stephen J.","family":"Chanock","sequence":"additional","affiliation":[]},{"given":"Melissa","family":"Christiaens","sequence":"additional","affiliation":[]},{"given":"Hans","family":"Christiansen","sequence":"additional","affiliation":[]},{"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[]},{"given":"Kathleen B.M.","family":"Claes","sequence":"additional","affiliation":[]},{"given":"Christine L.","family":"Clarke","sequence":"additional","affiliation":[]},{"given":"Sten","family":"Cornelissen","sequence":"additional","affiliation":[]},{"given":"Fergus J.","family":"Couch","sequence":"additional","affiliation":[]},{"given":"Angela","family":"Cox","sequence":"additional","affiliation":[]},{"given":"Simon S.","family":"Cross","sequence":"additional","affiliation":[]},{"given":"Kamila","family":"Czene","sequence":"additional","affiliation":[]},{"given":"Mary B.","family":"Daly","sequence":"additional","affiliation":[]},{"given":"Peter","family":"Devilee","sequence":"additional","affiliation":[]},{"given":"Orland","family":"Diez","sequence":"additional","affiliation":[]},{"given":"Susan M.","family":"Domchek","sequence":"additional","affiliation":[]},{"given":"Thilo","family":"D\u00f6rk","sequence":"additional","affiliation":[]},{"given":"Miriam","family":"Dwek","sequence":"additional","affiliation":[]},{"given":"Diana M.","family":"Eccles","sequence":"additional","affiliation":[]},{"given":"Arif B.","family":"Ekici","sequence":"additional","affiliation":[]},{"given":"D.Gareth","family":"Evans","sequence":"additional","affiliation":[]},{"given":"Peter A.","family":"Fasching","sequence":"additional","affiliation":[]},{"given":"Jonine","family":"Figueroa","sequence":"additional","affiliation":[]},{"given":"Lenka","family":"Foretova","sequence":"additional","affiliation":[]},{"given":"Florentia","family":"Fostira","sequence":"additional","affiliation":[]},{"given":"Eitan","family":"Friedman","sequence":"additional","affiliation":[]},{"given":"Debra","family":"Frost","sequence":"additional","affiliation":[]},{"given":"Manuela","family":"Gago-Dominguez","sequence":"additional","affiliation":[]},{"given":"Susan M.","family":"Gapstur","sequence":"additional","affiliation":[]},{"given":"Judy","family":"Garber","sequence":"additional","affiliation":[]},{"given":"Jos\u00e9 A.","family":"Garc\u00eda-S\u00e1enz","sequence":"additional","affiliation":[]},{"given":"Mia M.","family":"Gaudet","sequence":"additional","affiliation":[]},{"given":"Simon A.","family":"Gayther","sequence":"additional","affiliation":[]},{"given":"Graham G.","family":"Giles","sequence":"additional","affiliation":[]},{"given":"Andrew K.","family":"Godwin","sequence":"additional","affiliation":[]},{"given":"Mark S.","family":"Goldberg","sequence":"additional","affiliation":[]},{"given":"David E.","family":"Goldgar","sequence":"additional","affiliation":[]},{"given":"Anna","family":"Gonz\u00e1lez-Neira","sequence":"additional","affiliation":[]},{"given":"Mark H.","family":"Greene","sequence":"additional","affiliation":[]},{"given":"Jacek","family":"Gronwald","sequence":"additional","affiliation":[]},{"given":"Pascal","family":"Gu\u00e9nel","sequence":"additional","affiliation":[]},{"given":"Lothar","family":"H\u00e4berle","sequence":"additional","affiliation":[]},{"given":"Eric","family":"Hahnen","sequence":"additional","affiliation":[]},{"given":"Christopher A.","family":"Haiman","sequence":"additional","affiliation":[]},{"given":"Christopher R.","family":"Hake","sequence":"additional","affiliation":[]},{"given":"Per","family":"Hall","sequence":"additional","affiliation":[]},{"given":"Ute","family":"Hamann","sequence":"additional","affiliation":[]},{"given":"Elaine F.","family":"Harkness","sequence":"additional","affiliation":[]},{"given":"Bernadette A.M.","family":"Heemskerk-Gerritsen","sequence":"additional","affiliation":[]},{"given":"Peter","family":"Hillemanns","sequence":"additional","affiliation":[]},{"given":"Frans B.L.","family":"Hogervorst","sequence":"additional","affiliation":[]},{"given":"Bernd","family":"Holleczek","sequence":"additional","affiliation":[]},{"given":"Antoinette","family":"Hollestelle","sequence":"additional","affiliation":[]},{"given":"Maartje J.","family":"Hooning","sequence":"additional","affiliation":[]},{"given":"Robert N.","family":"Hoover","sequence":"additional","affiliation":[]},{"given":"John L.","family":"Hopper","sequence":"additional","affiliation":[]},{"given":"Anthony","family":"Howell","sequence":"additional","affiliation":[]},{"given":"Hanna","family":"Huebner","sequence":"additional","affiliation":[]},{"given":"Peter J.","family":"Hulick","sequence":"additional","affiliation":[]},{"given":"Evgeny N.","family":"Imyanitov","sequence":"additional","affiliation":[]},{"name":"kConFab Investigators","sequence":"additional","affiliation":[]},{"name":"ABCTB Investigators","sequence":"additional","affiliation":[]},{"given":"Claudine","family":"Isaacs","sequence":"additional","affiliation":[]},{"given":"Louise","family":"Izatt","sequence":"additional","affiliation":[]},{"given":"Agnes","family":"Jager","sequence":"additional","affiliation":[]},{"given":"Milena","family":"Jakimovska","sequence":"additional","affiliation":[]},{"given":"Anna","family":"Jakubowska","sequence":"additional","affiliation":[]},{"given":"Paul","family":"James","sequence":"additional","affiliation":[]},{"given":"Ramunas","family":"Janavicius","sequence":"additional","affiliation":[]},{"given":"Wolfgang","family":"Janni","sequence":"additional","affiliation":[]},{"given":"Esther M.","family":"John","sequence":"additional","affiliation":[]},{"given":"Michael E.","family":"Jones","sequence":"additional","affiliation":[]},{"given":"Audrey","family":"Jung","sequence":"additional","affiliation":[]},{"given":"Rudolf","family":"Kaaks","sequence":"additional","affiliation":[]},{"given":"Pooja Middha","family":"Kapoor","sequence":"additional","affiliation":[]},{"given":"Beth Y.","family":"Karlan","sequence":"additional","affiliation":[]},{"given":"Renske","family":"Keeman","sequence":"additional","affiliation":[]},{"given":"Sofia","family":"Khan","sequence":"additional","affiliation":[]},{"given":"Elza","family":"Khusnutdinova","sequence":"additional","affiliation":[]},{"given":"Cari M.","family":"Kitahara","sequence":"additional","affiliation":[]},{"given":"Yon-Dschun","family":"Ko","sequence":"additional","affiliation":[]},{"given":"Irene","family":"Konstantopoulou","sequence":"additional","affiliation":[]},{"given":"Linetta B.","family":"Koppert","sequence":"additional","affiliation":[]},{"given":"Stella","family":"Koutros","sequence":"additional","affiliation":[]},{"given":"Vessela N.","family":"Kristensen","sequence":"additional","affiliation":[]},{"given":"Anne-Vibeke","family":"Laenkholm","sequence":"additional","affiliation":[]},{"given":"Diether","family":"Lambrechts","sequence":"additional","affiliation":[]},{"given":"Susanna C.","family":"Larsson","sequence":"additional","affiliation":[]},{"given":"Pierre","family":"Laurent-Puig","sequence":"additional","affiliation":[]},{"given":"Conxi","family":"Lazaro","sequence":"additional","affiliation":[]},{"given":"Emilija","family":"Lazarova","sequence":"additional","affiliation":[]},{"given":"Flavio","family":"Lejbkowicz","sequence":"additional","affiliation":[]},{"given":"Goska","family":"Leslie","sequence":"additional","affiliation":[]},{"given":"Fabienne","family":"Lesueur","sequence":"additional","affiliation":[]},{"given":"Annika","family":"Lindblom","sequence":"additional","affiliation":[]},{"given":"Jolanta","family":"Lissowska","sequence":"additional","affiliation":[]},{"given":"Wing-Yee","family":"Lo","sequence":"additional","affiliation":[]},{"given":"Jennifer T.","family":"Loud","sequence":"additional","affiliation":[]},{"given":"Jan","family":"Lubinski","sequence":"additional","affiliation":[]},{"given":"Alicja","family":"Lukomska","sequence":"additional","affiliation":[]},{"given":"Robert J.","family":"MacInnis","sequence":"additional","affiliation":[]},{"given":"Arto","family":"Mannermaa","sequence":"additional","affiliation":[]},{"given":"Mehdi","family":"Manoochehri","sequence":"additional","affiliation":[]},{"given":"Siranoush","family":"Manoukian","sequence":"additional","affiliation":[]},{"given":"Sara","family":"Margolin","sequence":"additional","affiliation":[]},{"given":"Maria Elena","family":"Martinez","sequence":"additional","affiliation":[]},{"given":"Laura","family":"Matricardi","sequence":"additional","affiliation":[]},{"given":"Lesley","family":"McGuffog","sequence":"additional","affiliation":[]},{"given":"Catriona","family":"McLean","sequence":"additional","affiliation":[]},{"given":"Noura","family":"Mebirouk","sequence":"additional","affiliation":[]},{"given":"Alfons","family":"Meindl","sequence":"additional","affiliation":[]},{"given":"Usha","family":"Menon","sequence":"additional","affiliation":[]},{"given":"Austin","family":"Miller","sequence":"additional","affiliation":[]},{"given":"Elvira","family":"Mingazheva","sequence":"additional","affiliation":[]},{"given":"Marco","family":"Montagna","sequence":"additional","affiliation":[]},{"given":"Anna Marie","family":"Mulligan","sequence":"additional","affiliation":[]},{"given":"Claire","family":"Mulot","sequence":"additional","affiliation":[]},{"given":"Taru A.","family":"Muranen","sequence":"additional","affiliation":[]},{"given":"Katherine L.","family":"Nathanson","sequence":"additional","affiliation":[]},{"given":"Susan L.","family":"Neuhausen","sequence":"additional","affiliation":[]},{"given":"Heli","family":"Nevanlinna","sequence":"additional","affiliation":[]},{"given":"Patrick","family":"Neven","sequence":"additional","affiliation":[]},{"given":"William G.","family":"Newman","sequence":"additional","affiliation":[]},{"given":"Finn C.","family":"Nielsen","sequence":"additional","affiliation":[]},{"given":"Liene","family":"Nikitina-Zake","sequence":"additional","affiliation":[]},{"given":"Jesse","family":"Nodora","sequence":"additional","affiliation":[]},{"given":"Kenneth","family":"Offit","sequence":"additional","affiliation":[]},{"given":"Edith","family":"Olah","sequence":"additional","affiliation":[]},{"given":"Olufunmilayo I.","family":"Olopade","sequence":"additional","affiliation":[]},{"given":"H\u00e5kan","family":"Olsson","sequence":"additional","affiliation":[]},{"given":"Nick","family":"Orr","sequence":"additional","affiliation":[]},{"given":"Laura","family":"Papi","sequence":"additional","affiliation":[]},{"given":"Janos","family":"Papp","sequence":"additional","affiliation":[]},{"given":"Tjoung-Won","family":"Park-Simon","sequence":"additional","affiliation":[]},{"given":"Michael T.","family":"Parsons","sequence":"additional","affiliation":[]},{"given":"Bernard","family":"Peissel","sequence":"additional","affiliation":[]},{"given":"Ana","family":"Peixoto","sequence":"additional","affiliation":[]},{"given":"Beth","family":"Peshkin","sequence":"additional","affiliation":[]},{"given":"Paolo","family":"Peterlongo","sequence":"additional","affiliation":[]},{"given":"Julian","family":"Peto","sequence":"additional","affiliation":[]},{"given":"Kelly-Anne","family":"Phillips","sequence":"additional","affiliation":[]},{"given":"Marion","family":"Piedmonte","sequence":"additional","affiliation":[]},{"given":"Dijana","family":"Plaseska-Karanfilska","sequence":"additional","affiliation":[]},{"given":"Karolina","family":"Prajzendanc","sequence":"additional","affiliation":[]},{"given":"Ross","family":"Prentice","sequence":"additional","affiliation":[]},{"given":"Darya","family":"Prokofyeva","sequence":"additional","affiliation":[]},{"given":"Brigitte","family":"Rack","sequence":"additional","affiliation":[]},{"given":"Paolo","family":"Radice","sequence":"additional","affiliation":[]},{"given":"Susan J.","family":"Ramus","sequence":"additional","affiliation":[]},{"given":"Johanna","family":"Rantala","sequence":"additional","affiliation":[]},{"given":"Muhammad U.","family":"Rashid","sequence":"additional","affiliation":[]},{"given":"Gad","family":"Rennert","sequence":"additional","affiliation":[]},{"given":"Hedy S.","family":"Rennert","sequence":"additional","affiliation":[]},{"given":"Harvey A.","family":"Risch","sequence":"additional","affiliation":[]},{"given":"Atocha","family":"Romero","sequence":"additional","affiliation":[]},{"given":"Matti A.","family":"Rookus","sequence":"additional","affiliation":[]},{"given":"Matthias","family":"R\u00fcbner","sequence":"additional","affiliation":[]},{"given":"Thomas","family":"R\u00fcdiger","sequence":"additional","affiliation":[]},{"given":"Emmanouil","family":"Saloustros","sequence":"additional","affiliation":[]},{"given":"Sarah","family":"Sampson","sequence":"additional","affiliation":[]},{"given":"Dale P.","family":"Sandler","sequence":"additional","affiliation":[]},{"given":"Elinor J.","family":"Sawyer","sequence":"additional","affiliation":[]},{"given":"Maren T.","family":"Scheuner","sequence":"additional","affiliation":[]},{"given":"Rita K.","family":"Schmutzler","sequence":"additional","affiliation":[]},{"given":"Andreas","family":"Schneeweiss","sequence":"additional","affiliation":[]},{"given":"Minouk J.","family":"Schoemaker","sequence":"additional","affiliation":[]},{"given":"Ben","family":"Sch\u00f6ttker","sequence":"additional","affiliation":[]},{"given":"Peter","family":"Sch\u00fcrmann","sequence":"additional","affiliation":[]},{"given":"Leigha","family":"Senter","sequence":"additional","affiliation":[]},{"given":"Priyanka","family":"Sharma","sequence":"additional","affiliation":[]},{"given":"Mark E.","family":"Sherman","sequence":"additional","affiliation":[]},{"given":"Xiao-Ou","family":"Shu","sequence":"additional","affiliation":[]},{"given":"Christian F.","family":"Singer","sequence":"additional","affiliation":[]},{"given":"Snezhana","family":"Smichkoska","sequence":"additional","affiliation":[]},{"given":"Penny","family":"Soucy","sequence":"additional","affiliation":[]},{"given":"Melissa C.","family":"Southey","sequence":"additional","affiliation":[]},{"given":"John J.","family":"Spinelli","sequence":"additional","affiliation":[]},{"given":"Jennifer","family":"Stone","sequence":"additional","affiliation":[]},{"given":"Dominique","family":"Stoppa-Lyonnet","sequence":"additional","affiliation":[]},{"name":"EMBRACE Study","sequence":"additional","affiliation":[]},{"name":"GEMO Study Collaborators","sequence":"additional","affiliation":[]},{"given":"Anthony J.","family":"Swerdlow","sequence":"additional","affiliation":[]},{"given":"Csilla I.","family":"Szabo","sequence":"additional","affiliation":[]},{"given":"Rulla M.","family":"Tamimi","sequence":"additional","affiliation":[]},{"given":"William J.","family":"Tapper","sequence":"additional","affiliation":[]},{"given":"Jack A.","family":"Taylor","sequence":"additional","affiliation":[]},{"given":"Manuel R.","family":"Teixeira","sequence":"additional","affiliation":[]},{"given":"MaryBeth","family":"Terry","sequence":"additional","affiliation":[]},{"given":"Mads","family":"Thomassen","sequence":"additional","affiliation":[]},{"given":"Darcy L.","family":"Thull","sequence":"additional","affiliation":[]},{"given":"Marc","family":"Tischkowitz","sequence":"additional","affiliation":[]},{"given":"Amanda E.","family":"Toland","sequence":"additional","affiliation":[]},{"given":"Rob A.E.M.","family":"Tollenaar","sequence":"additional","affiliation":[]},{"given":"Ian","family":"Tomlinson","sequence":"additional","affiliation":[]},{"given":"Diana","family":"Torres","sequence":"additional","affiliation":[]},{"given":"Melissa A.","family":"Troester","sequence":"additional","affiliation":[]},{"given":"Th\u00e9r\u00e8se","family":"Truong","sequence":"additional","affiliation":[]},{"given":"Nadine","family":"Tung","sequence":"additional","affiliation":[]},{"given":"Michael","family":"Untch","sequence":"additional","affiliation":[]},{"given":"Celine M.","family":"Vachon","sequence":"additional","affiliation":[]},{"given":"Ans M.W.","family":"van den Ouweland","sequence":"additional","affiliation":[]},{"given":"Lizet E.","family":"van der Kolk","sequence":"additional","affiliation":[]},{"given":"Elke M.","family":"van Veen","sequence":"additional","affiliation":[]},{"given":"Elizabeth J.","family":"van Rensburg","sequence":"additional","affiliation":[]},{"given":"Ana","family":"Vega","sequence":"additional","affiliation":[]},{"given":"Barbara","family":"Wappenschmidt","sequence":"additional","affiliation":[]},{"given":"Clarice R.","family":"Weinberg","sequence":"additional","affiliation":[]},{"given":"Jeffrey N.","family":"Weitzel","sequence":"additional","affiliation":[]},{"given":"Hans","family":"Wildiers","sequence":"additional","affiliation":[]},{"given":"Robert","family":"Winqvist","sequence":"additional","affiliation":[]},{"given":"Alicja","family":"Wolk","sequence":"additional","affiliation":[]},{"given":"Xiaohong R.","family":"Yang","sequence":"additional","affiliation":[]},{"given":"Drakoulis","family":"Yannoukakos","sequence":"additional","affiliation":[]},{"given":"Wei","family":"Zheng","sequence":"additional","affiliation":[]},{"given":"Kristin K.","family":"Zorn","sequence":"additional","affiliation":[]},{"given":"Monica","family":"Zuradelli","sequence":"additional","affiliation":[]},{"given":"Roger L.","family":"Milne","sequence":"additional","affiliation":[]},{"given":"Peter","family":"Kraft","sequence":"additional","affiliation":[]},{"given":"Jacques","family":"Simard","sequence":"additional","affiliation":[]},{"given":"Paul D.P.","family":"Pharoah","sequence":"additional","affiliation":[]},{"given":"Kyriaki","family":"Michailidou","sequence":"additional","affiliation":[]},{"given":"Antonis C.","family":"Antoniou","sequence":"additional","affiliation":[]},{"given":"Marjanka K.","family":"Schmidt","sequence":"additional","affiliation":[]},{"given":"Georgia","family":"Chenevix-Trench","sequence":"additional","affiliation":[]},{"given":"Douglas F.","family":"Easton","sequence":"additional","affiliation":[]},{"given":"Nilanjan","family":"Chatterjee","sequence":"additional","affiliation":[]},{"given":"Montserrat","family":"Garc\u00eda-Closas","sequence":"additional","affiliation":[]}],"member":"54368","reference":[{"key":"2019100612350439000_778605v2.1","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1038\/nature24284","article-title":"Association analysis identifies 65 new breast cancer risk loci","volume":"551","year":"2017","journal-title":"Nature"},{"key":"2019100612350439000_778605v2.2","doi-asserted-by":"crossref","first-page":"1767","DOI":"10.1038\/ng.3785","article-title":"Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer","volume":"49","year":"2017","journal-title":"Nat Genet"},{"key":"2019100612350439000_778605v2.3","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2561"},{"key":"2019100612350439000_778605v2.4","doi-asserted-by":"crossref","unstructured":"Zhang, H. et al. A mixed-model approach for powerful testing of genetic associations with cancer risk incorporating tumor characteristics. bioRxiv, 446039 (2018).","DOI":"10.1101\/446039"},{"key":"2019100612350439000_778605v2.5","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2563"},{"key":"2019100612350439000_778605v2.6","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3242"},{"key":"2019100612350439000_778605v2.7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.2517-6161.1977.tb01600.x","article-title":"Maximum Likelihood from Incomplete Data Via Em Algorithm","volume":"39","year":"1977","journal-title":"Journal of the Royal Statistical Society Series B-Methodological"},{"key":"2019100612350439000_778605v2.8","doi-asserted-by":"publisher","DOI":"10.1186\/s13058-014-0474-y"},{"key":"2019100612350439000_778605v2.9","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3826"},{"key":"2019100612350439000_778605v2.10","doi-asserted-by":"publisher","DOI":"10.1038\/ng.926"},{"key":"2019100612350439000_778605v2.11","doi-asserted-by":"crossref","first-page":"2060","DOI":"10.1016\/j.celrep.2016.10.058","article-title":"Analysis of Normal Human Mammary Epigenomes Reveals Cell-Specific Active Enhancer States and Associated Transcription Factor Networks","volume":"17","year":"2016","journal-title":"Cell Rep"},{"key":"2019100612350439000_778605v2.12","doi-asserted-by":"crossref","unstructured":"Beesley, J. et al. Chromatin interactome mapping at 139 independent breast cancer risk signals. bioRxiv, 520916 (2019).","DOI":"10.1101\/520916"},{"key":"2019100612350439000_778605v2.13","unstructured":"Fachal, L. et al. Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes. bioRxiv, 521054 (2019)."},{"key":"2019100612350439000_778605v2.14","doi-asserted-by":"publisher","DOI":"10.1038\/nature17676"},{"key":"2019100612350439000_778605v2.15","doi-asserted-by":"crossref","first-page":"1741","DOI":"10.1038\/s41467-018-08053-5","article-title":"Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer","volume":"10","year":"2019","journal-title":"Nat Commun"},{"key":"2019100612350439000_778605v2.16","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-018-0132-x"},{"key":"2019100612350439000_778605v2.17","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3406"},{"key":"2019100612350439000_778605v2.18","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3211"},{"key":"2019100612350439000_778605v2.19","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3404"},{"key":"2019100612350439000_778605v2.20","unstructured":"Ahearn, T.U. et al. Common breast cancer risk loci predispose to distinct tumor subtypes. bioRxiv, 733402 (2019)."},{"key":"2019100612350439000_778605v2.21","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.11.002"},{"key":"2019100612350439000_778605v2.22","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.11.001"},{"key":"2019100612350439000_778605v2.23","doi-asserted-by":"publisher","DOI":"10.1198\/016214504000000124"},{"key":"2019100612350439000_778605v2.24","doi-asserted-by":"crossref","unstructured":"Zhang, H. et al. A mixed-model approach for powerful testing of genetic associations with cancer risk incorporating tumor characteristics. bioRxiv, 446039 (2018).","DOI":"10.1101\/446039"},{"key":"2019100612350439000_778605v2.25","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.21620"},{"key":"2019100612350439000_778605v2.26","doi-asserted-by":"publisher","DOI":"10.1038\/ng.669"},{"key":"2019100612350439000_778605v2.27","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btq340"},{"key":"2019100612350439000_778605v2.28","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.144"},{"key":"2019100612350439000_778605v2.29","doi-asserted-by":"publisher","DOI":"10.2307\/2346101"},{"key":"2019100612350439000_778605v2.30","doi-asserted-by":"crossref","first-page":"1700","DOI":"10.1093\/annonc\/mdx308","article-title":"De-escalating and escalating treatments for early-stage breast cancer: the St. Gallen International Expert Consensus Conference on the Primary Therapy of Early Breast Cancer 2017","volume":"28","year":"2017","journal-title":"Ann Oncol"},{"key":"2019100612350439000_778605v2.31","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.20504"},{"key":"2019100612350439000_778605v2.32","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2435"},{"key":"2019100612350439000_778605v2.33","doi-asserted-by":"publisher","DOI":"10.1038\/nature11412"},{"key":"2019100612350439000_778605v2.34","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2011-12-4-r41"},{"key":"2019100612350439000_778605v2.35","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2653"},{"key":"2019100612350439000_778605v2.36","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.12.034"},{"key":"2019100612350439000_778605v2.37","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bts163"},{"key":"2019100612350439000_778605v2.38","doi-asserted-by":"publisher","DOI":"10.1038\/nature08497"},{"key":"2019100612350439000_778605v2.39","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2014.11.021"},{"key":"2019100612350439000_778605v2.40","doi-asserted-by":"publisher","DOI":"10.1101\/gr.164079.113"},{"key":"2019100612350439000_778605v2.41","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1320308111"},{"key":"2019100612350439000_778605v2.42","doi-asserted-by":"publisher","DOI":"10.1038\/nature12787"},{"key":"2019100612350439000_778605v2.43","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2013.09.053"},{"key":"2019100612350439000_778605v2.44","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-018-0195-8"},{"key":"2019100612350439000_778605v2.45","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-016-0974-4"},{"key":"2019100612350439000_778605v2.46","doi-asserted-by":"publisher","DOI":"10.1038\/ng853"},{"key":"2019100612350439000_778605v2.47","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2322"}],"container-title":[],"original-title":[],"link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1101\/778605","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T23:33:54Z","timestamp":1768433634000},"score":1,"resource":{"primary":{"URL":"http:\/\/biorxiv.org\/lookup\/doi\/10.1101\/778605"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9,24]]},"references-count":47,"URL":"https:\/\/doi.org\/10.1101\/778605","relation":{"is-preprint-of":[{"id-type":"doi","id":"10.1038\/s41588-020-0609-2","asserted-by":"subject"}]},"subject":[],"published":{"date-parts":[[2019,9,24]]},"subtype":"preprint"}}