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

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 level...

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Publisher copy:
10.1016/j.ajhg.2013.01.002

Authors


Journal:
American Journal of Human Genetics
Volume:
92
Issue:
4
Pages:
489-503
Publication date:
2013-04-04
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
Pubs id:
pubs:396056
UUID:
uuid:630bdaf9-1695-48c9-8374-5eb21f7d3423
Local pid:
pubs:396056
Source identifiers:
396056
Deposit date:
2014-02-08

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