The Library
Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers
Tools
(2013) Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. American Journal of Human Genetics, Volume 92 (Number 4). pp. 489-503. doi:10.1016/j.ajhg.2013.01.002 ISSN 0002-9297.
Research output not available from this repository.
Request-a-Copy directly from author or use local Library Get it For Me service.
Official URL: http://dx.doi.org/10.1016/j.ajhg.2013.01.002
Abstract
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.
Item Type: | Journal Article | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Divisions: | Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School > Biomedical Sciences > Cell & Developmental Biology Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School > Health Sciences Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School |
||||||||||
Journal or Publication Title: | American Journal of Human Genetics | ||||||||||
Publisher: | Elsevier | ||||||||||
ISSN: | 0002-9297 | ||||||||||
Official Date: | April 2013 | ||||||||||
Dates: |
|
||||||||||
Volume: | Volume 92 | ||||||||||
Number: | Number 4 | ||||||||||
Page Range: | pp. 489-503 | ||||||||||
DOI: | 10.1016/j.ajhg.2013.01.002 | ||||||||||
Status: | Peer Reviewed | ||||||||||
Publication Status: | Published | ||||||||||
Access rights to Published version: | Open Access (Creative Commons) |
Request changes or add full text files to a record
Repository staff actions (login required)
View Item |