Researchers have developed a new technology that detects genetic changes in cancer patients, helping to distinguish them from healthy individuals. The technology may eventually lead to a cancer predisposition test, investigators say.

The multidisciplinary research team, led by scientists from the Virginia Bioinformatics Institute (VBI) at Virginia Polytechnic Institute and State University (Virginia Tech) in Blacksburg, Virginia, also includes researchers from the University of Texas Southwestern Medical Center in Dallas. Their work, featured in the journal Genes, Chromosomes & Cancer, involves a design for a new DNA microarray using 300,000 probes that measure 2 million microsatellites found within the human genome.1

Microsatellites tend to vary greatly among people and have been used in forensics and paternity tests and for gathering information on other genetic diseases such as fragile X syndrome or Huntington disease. This new knowledge helped the research team find a unique pattern of microsatellite variation in patients with breast cancer that was not present in the DNA of cancer-free individuals.

An analysis of global changes in the genome led researchers to determine that this pattern change signifies a new mechanism that disrupts the genome in cancer patients and may someday serve as a new biomarker for breast cancer risk. Researchers can now quickly, efficiently, and inexpensively measure the 2 million microsatellites using the uniquely designed microarray, notes study coauthor and VBI Executive Director Harold Garner, PhD.

Only a small percentage of microsatellites have been linked to cancer and other diseases because there previously has not been an effective method of evaluating large numbers of these sequences, according to a news release issued by Virginia Tech.

The new technology will enable scientists to better understand the role of microsatellites and to identify genetic changes in many different types of cancer. It also has the potential to serve as a universal cancer biomarker, researchers say. It already has been useful in the discovery of a new biomarker in the estrogen-related receptor gamma gene, which demonstrates an increased risk of breast cancer.

The team is investigating a variety of these cancer predisposition risk markers in colon, lung, and other cancers


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  • 1
    Galindo CL, McIver LJ, Tae H, et al. Sporadic breast cancer patients' germline DNA exhibit an AT-rich microsatellite signature. Genes Chromosomes Cancer. 2011; 50: 275-283.