Health
Mayo Clinic study reclassifies 'uncertain' BRCA2 gene mutations as associated with cancer risk
A Mayo Clinic-led research team is solving one of the most frustrating aspects of genetic cancer screening: results that give patients no guidance as to whether they are at high risk.
While some mutations in the BRCA2 gene clearly indicate a risk of breast or prostate cancer, thousands of less common mutations can cause cancer to occur even if a test reveals that you have them. This confuses patients and does not provide guidance to anxious patients.
Dr. Mayo used gene-editing techniques to analyze “variants of uncertain significance” in one region of this important gene, and last week found that only about 250 of them were pathogenic. They reported that this means an increased risk of cancer.
The remaining 3,500 cases were benign. This means that most of the mutations tested in this region of the BRCA2 gene do not show increased cancer risk.
The current goal is to communicate these latest findings to genetic testing laboratories so they can apply them when patients test positive for these mutations, providing clarity rather than confusion. That's true, said Fergus Couch, lead author of the study and president of the Mayo's Center. Department of Experimental Pathology and Laboratory Medicine.
If tests find these mutations, “it's a real problem for patients,” he said. “They pay to get a test and they actually get the results back. They found something and no one knew what it did. So for the patient, They feel very anxious. It actually causes a lot of stress…because they can't help but think, “Maybe that actually increases my risk of cancer.'' is. they don't know what to do with it. ”
of Latest results The paper was published in the prestigious scientific journal Nature and is based on Mayo's discovery that gene editing technology can be used to test thousands of mutations at once to see if they are pathogenic. are. Previously, researchers tested mutations one at a time, determining only whether hundreds of mutations were potentially harmful.
Genes are essentially codes passed from parents to children for human growth and development. Variations in the expression of these genes can cause differences in everything from eye color to blood type to cancer and disease risk.
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