@article{aaae7069441b4a1cae9515f185100c41,
title = "A long AAAG repeat allele in the 5′ UTR of the ERR-γ gene is correlated with breast cancer predisposition and drives promoter activity in MCF-7 breast cancer cells",
abstract = "We sequenced the 5′ UTR of the estrogenrelated 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.",
keywords = "AAAG, Breast cancer, Genetic predisposition, Microsatellite, Polymorphism",
author = "Galindo, {C. L.} and McCormick, {J. F.} and Bubb, {V. J.} and {Abid Alkadem}, {D. H.} and Li, {Long Shan} and McIver, {L. J.} and George, {A. C.} and Boothman, {D. A.} and Quinn, {J. P.} and Skinner, {M. A.} and Garner, {H. R.}",
note = "Funding Information: Acknowledgments This work was funded by the P.O{\textquoteright}B. Montgomery Distinguished Chair, the Hudson Foundation and directors funds at the Virginia Bioinformatics Institute. This work was also partially supported by the University of Texas NIH/NCI SPORE in Lung Cancer (P50CA70907). We would like to extend a special thanks to Linda Gunn, Zhaohui Sun, and Tanishia Choice, M.D. for their valuable technical assistance. We also appreciate the assistance of Jennifer Sayne, manager of the UTSW Tissue Repository, who provided the majority of patient samples used in this study, and Jingshen Yan with the Division of Biostatistics, Department of Clinical Sciences at UTSW, who provided statistical assistance. Dr. Adi Gazdar, with the Department of Pathology at UTSW and Dr. Cheryl Lewis, with the Department of Surgery at UTSW, provided additional cell lines and patient samples.",
year = "2011",
month = nov,
doi = "10.1007/s10549-010-1237-9",
language = "English (US)",
volume = "130",
pages = "41--48",
journal = "Breast Cancer Research and Treatment",
issn = "0167-6806",
publisher = "Springer New York",
number = "1",
}