The BRCA1 and BRCA2 genes have become the most well-known breast cancer genes to be tested for due to recent celebrity buzz as well as Supreme Court ruling on the patents on the genes themselves. While getting tested for the BRCA1 and BRCA2 reveals the possibility for a woman to contracting breast cancer, the mutations in these genes account for just a small fraction of all breast cancers, and a negative test does not mean never contracting breast cancer. Likewise, testing positive does not presage a future tumor.

By combining family history data and laboratory techniques, Mayo Clinic geneticist Fergus J. Couch, Ph.D., is innovating research to give women the genetic information necessary to make crucial personal health decisions.

 

"You can imagine this information will be useful for developing risk models in the future," Dr. Couch explains, "because it is all about risk and individualization of risk. Rather than giving a woman some number that really just represents the average risk of disease, we want to be able to give her a risk that takes into account her specific environmental and genetic influences."

 

As part of this project, Dr. Couch and epidemiologist Celine M. Vachon, Ph.D., also of Mayo Clinic in Rochester, Minn., are investigating risk factors for a specific subset of the disease known as triple-negative breast cancer. Although it makes up only 12 percent of all cases, triple-negative breast cancer is the most aggressive form of the disease and is difficult to treat because the tumors don't contain estrogen, progesterone and HER2 receptors. By scanning the entire genome of 5,000 triple-negative breast cancer patients, the researchers have been able to identify nine new markers of the disease.

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