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Mutation report
Germline mutation of microRNA-125a is associated with breast cancer
  1. W Li1,
  2. R Duan1,
  3. F Kooy2,
  4. S L Sherman1,
  5. W Zhou3,
  6. P Jin1
  1. 1
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA
  2. 2
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
  3. 3
    Department of Hematology and Oncology, Winship Cancer Institute, Emory University School of Medicine, Atlanta, Georgia, USA
  1. 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

Abstract

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.

http://dx.doi.org/10.1136/jmg.2008.063123

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    Footnotes

    • Funding: PJ is supported by NIH grants (NS051630 and MH076090). PJ is the recipient of a Beckman Young Investigator Award and a Basil O’Connor Scholar Research Award and is an Alfred P Sloan Research Fellow in Neuroscience.

    • Competing interests: None.

    • Patient consent: Obtained.

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    2009 BMJ Publishing Group