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Study Identifies Possible Genetic Markers in Breast Cancer Brain Metastases

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Key Points

  • Researchers have uncovered the possible genetic origins of breast cancer brain metastases.
  • The compendium of genetic targets may be used to identify potential methods of diagnosis and novel therapeutics for patients with breast cancer that spreads to the brain.
  • Some of the common genetic alterations identified in the study include gains and losses in chromosome 8, as well as cell proliferation and cell-cycle progression linked to the genes AURKA, AURKB, and FOXM1.

Scientists from the Translational Genomics Research Institute (TGen) have uncovered the possible genetic origins of breast cancers that metastasize to the brain. The compendium of new genetic targets may be be used to identify potential methods of diagnosis and novel therapeutics for patients with breast cancer brain metastases. The study by Salhia et al is published in PLOS ONE.

According to the researchers, each year, an estimated 45,000 patients with breast cancer in the United States will develop brain metastases. These brain metastases can occur rapidly and are often deadly, with fewer than 2% of patients surviving more than 2 years. The current study aimed to assemble a compendium of genomic and epigenomic events in a series of brain lesions to understand the causes of breast cancer brain metastases and identify potential new therapeutic targets.

Study Methods and Results

The researchers performed comprehensive genomic and epigenomic analysis using microarray technology to measure alterations at the level of mRNA expression, DNA copy number, and DNA methylation on 35 samples of breast-brain metastases. Some of the common genetic alterations they identified include gains and losses in chromosome 8, as well as cell proliferation and cell-cycle progression linked to the genes AURKA, AURKB, and FOXM1.

After lung cancer, breast cancer is the second most common cancer that spreads to the brain. Epidemiologic studies suggest that brain metastases occur in 10% to 16% of patients with breast cancer, although large autopsy studies indicate that the percentage may be as high as between 18% and 30%, according to the study.

“Our study has highlighted a number of fundamental genetic and epigenetic aberrations occurring in brain metastases from primary breast tumor with strong implications for future targeted therapies that are aimed at alleviating the burden of this critically unmet need,” wrote the researchers.

Bodour Salhia, PhD, and Nhan L. Tran, PhD, of the Translational Genomics Research Institute, are the corresponding authors for the PLOS ONE article.

Funding for this study was provided by the National Institutes of Health, CARE Board of Trustees, and TGen-Van Andel Integration. The study authors reported no potential conflicts of interest.

The content in this post has not been reviewed by the American Society of Clinical Oncology, Inc. (ASCO®) and does not necessarily reflect the ideas and opinions of ASCO®.


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