A long AAAG repeat allele in the 5′ UTR of the ERR-γ gene is correlated with breast cancer predisposition and ... View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2010-12-10

AUTHORS

C. L. Galindo, J. F. McCormick, V. J. Bubb, D. H. Abid Alkadem, Long-Shan Li, L. J. McIver, A. C. George, D. A. Boothman, J. P. Quinn, M. A. Skinner, H. R. Garner

ABSTRACT

We sequenced the 5′ UTR of the estrogen-related receptor gamma gene (ERR-γ) in ~500 patient and volunteer samples and found that longer alleles of the (AAAG)n microsatellite were statistically and significantly more likely to exist in the germlines of breast cancer patients when compared to healthy volunteers. This microsatellite region contains multiple binding sites for a number of transcription factors, and we hypothesized that the polymorphic AAAG-containing sequence in the 5′ UTR region of ERR-γ might modulate expression of ERR-γ. We found that the 369 bp PCR product containing the AAAG repeat drove expression of a reporter gene in estrogen receptor positive breast cancer cells. Our results support a role for the 5′ UTR region in ERR-γ expression, which is potentially mediated via binding to the variable tandem AAAG repeat, the length of which correlates with breast cancer pre-disposition. Our study indicates that the AAAG tetranucleotide repeat polymorphism in ERR-γ gene 5′ UTR region may be a new biomarker for genetic susceptibility to breast cancer. More... »

PAGES

41-48

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10549-010-1237-9

DOI

http://dx.doi.org/10.1007/s10549-010-1237-9

DIMENSIONS

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PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/21153485


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