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Journal of Medical Genetics 2009;46:358-360; doi:10.1136/jmg.2008.063123
Copyright © 2009 by the BMJ Publishing Group Ltd.

MUTATION REPORTS

Germline mutation of microRNA-125a is associated with breast cancer

W Li1, R Duan1, F Kooy2, S L Sherman1, W Zhou3, P Jin1

1 Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA
2 Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
3 Department of Hematology and Oncology, Winship Cancer Institute, Emory University School of Medicine, Atlanta, Georgia, USA

Correspondence to:
Dr P Jin, Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Suite 301, Atlanta, GA 30322, USA; peng.jin{at}emory.edu

MicroRNAs (miRNAs) are small non-coding RNAs that inhibit expression of specific target genes at the posttranscriptional level. MiRNAs are often found to be misregulated in human cancer, and they can act as either potent oncogenes or tumour suppressor genes. Here we show that a germline mutation in mature miR-125a is highly associated with breast cancer tumorigenesis, suggesting that miR-125a is likely to function as a tumour suppressor gene in human cancer.


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