Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers.

Juliet D French; Maya Ghoussaini; Stacey L Edwards; Kerstin B Meyer; Kyriaki Michailidou; Shahana Ahmed; Sofia Khan; Mel J Maranian; Martin O'Reilly; Kristine M Hillman; +203 more... Joshua A Betts; Thomas Carroll; Peter J Bailey; Ed Dicks; Jonathan Beesley; Jonathan Tyrer; Ana-Teresa Maia; Andrew Beck; Nicholas W Knoblauch; Constance Chen; Peter Kraft; Daniel Barnes; Anna González-Neira; M Rosario Alonso; Daniel Herrero; Daniel C Tessier; Daniel Vincent; Francois Bacot; Craig Luccarini; Caroline Baynes; Don Conroy; Joe Dennis; Manjeet K Bolla; Qin Wang; John L Hopper; Melissa C Southey; Marjanka K Schmidt; Annegien Broeks; Senno Verhoef; Sten Cornelissen; Kenneth Muir; Artitaya Lophatananon; Sarah Stewart-Brown; Pornthep Siriwanarangsan; Peter A Fasching; Christian R Loehberg; Arif B Ekici; Matthias W Beckmann; Julian Peto ORCID logo; Isabel dos Santos Silva ORCID logo; Nichola Johnson; Zoe Aitken; Elinor J Sawyer; Ian Tomlinson; Michael J Kerin; Nicola Miller; Frederik Marme; Andreas Schneeweiss; Christof Sohn; Barbara Burwinkel; Pascal Guénel; Thérèse Truong; Pierre Laurent-Puig; Florence Menegaux; Stig E Bojesen; Børge G Nordestgaard; Sune F Nielsen; Henrik Flyger; Roger L Milne; M Pilar Zamora; Jose Ignacio Arias Perez; Javier Benitez; Hoda Anton-Culver; Hermann Brenner; Heiko Müller; Volker Arndt; Christa Stegmaier; Alfons Meindl; Peter Lichtner; Rita K Schmutzler; Christoph Engel; Hiltrud Brauch; Ute Hamann; Christina Justenhoven; GENICA Network; Kirsimari Aaltonen; Päivi Heikkilä; Kristiina Aittomäki; Carl Blomqvist; Keitaro Matsuo; Hidemi Ito; Hiroji Iwata; Aiko Sueta; Natalia V Bogdanova; Natalia N Antonenkova; Thilo Dörk; Annika Lindblom; Sara Margolin; Arto Mannermaa; Vesa Kataja; Veli-Matti Kosma; Jaana M Hartikainen; kConFab Investigators; Anna H Wu; Chiu-chen Tseng; David Van Den Berg; Daniel O Stram; Diether Lambrechts; Stephanie Peeters; Ann Smeets; Giuseppe Floris; Jenny Chang-Claude; Anja Rudolph; Stefan Nickels; Dieter Flesch-Janys; Paolo Radice; Paolo Peterlongo; Bernardo Bonanni; Domenico Sardella; Fergus J Couch; Xianshu Wang; Vernon S Pankratz; Adam Lee; Graham G Giles; Gianluca Severi; Laura Baglietto; Christopher A Haiman; Brian E Henderson; Fredrick Schumacher; Loic Le Marchand; Jacques Simard; Mark S Goldberg; France Labrèche; Martine Dumont; Soo Hwang Teo; Cheng Har Yip; Char-Hong Ng; Eranga Nishanthie Vithana; Vessela Kristensen; Wei Zheng; Sandra Deming-Halverson; Martha Shrubsole; Jirong Long; Robert Winqvist; Katri Pylkäs; Arja Jukkola-Vuorinen; Mervi Grip; Irene L Andrulis; Julia A Knight; Gord Glendon; Anna Marie Mulligan; Peter Devilee; Caroline Seynaeve; Montserrat García-Closas; Jonine Figueroa; Stephen J Chanock; Jolanta Lissowska; Kamila Czene; Daniel Klevebring; Nils Schoof; Maartje J Hooning; John WM Martens; J Margriet Collée; Madeleine Tilanus-Linthorst; Per Hall; Jingmei Li; Jianjun Liu; Keith Humphreys; Xiao-Ou Shu; Wei Lu; Yu-Tang Gao; Hui Cai; Angela Cox; Sabapathy P Balasubramanian; William Blot; Lisa B Signorello; Qiuyin Cai; Paul DP Pharoah; Catherine S Healey; Mitul Shah; Karen A Pooley; Daehee Kang; Keun-Young Yoo; Dong-Young Noh; Mikael Hartman; Hui Miao; Jen-Hwei Sng; Xueling Sim; Anna Jakubowska; Jan Lubinski; Katarzyna Jaworska-Bieniek; Katarzyna Durda; Suleeporn Sangrajrang; Valerie Gaborieau; James McKay; Amanda E Toland; Christine B Ambrosone; Drakoulis Yannoukakos; Andrew K Godwin; Chen-Yang Shen; Chia-Ni Hsiung; Pei-Ei Wu; Shou-Tung Chen; Anthony Swerdlow; Alan Ashworth; Nick Orr; Minouk J Schoemaker; Bruce AJ Ponder; Heli Nevanlinna; Melissa A Brown; Georgia Chenevix-Trench; Douglas F Easton; Alison M Dunning; (2013) Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. American journal of human genetics, 92 (4). pp. 489-503. ISSN 0002-9297 DOI: 10.1016/j.ajhg.2013.01.002
Copy

Analysis of 4,405 variants in 89,050 European subjects from 41 case-control studies identified three independent association signals for estrogen-receptor-positive tumors at 11q13. The strongest signal maps to a transcriptional enhancer element in which the G allele of the best candidate causative variant rs554219 increases risk of breast cancer, reduces both binding of ELK4 transcription factor and luciferase activity in reporter assays, and may be associated with low cyclin D1 protein levels in tumors. Another candidate variant, rs78540526, lies in the same enhancer element. Risk association signal 2, rs75915166, creates a GATA3 binding site within a silencer element. Chromatin conformation studies demonstrate that these enhancer and silencer elements interact with each other and with their likely target gene, CCND1.

Full text not available from this repository.

Atom BibTeX OpenURL ContextObject in Span Multiline CSV OpenURL ContextObject Dublin Core Dublin Core MPEG-21 DIDL EndNote HTML Citation JSON MARC (ASCII) MARC (ISO 2709) METS MODS RDF+N3 RDF+N-Triples RDF+XML RIOXX2 XML Reference Manager Refer Simple Metadata ASCII Citation EP3 XML
Export

Downloads