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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

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  • 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
  • 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
  • Stig E Bojesen
  • Børge G Nordestgaard
  • Sune F Nielsen
  • Henrik Flyger
  • GENICA Network
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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.
OriginalsprogEngelsk
TidsskriftAmerican Journal of Human Genetics
Vol/bind92
Udgave nummer4
Sider (fra-til)489-503
Antal sider15
ISSN0002-9297
DOI
StatusUdgivet - 4 apr. 2013

ID: 38624919