Big Strides Made in Identifying More BRCA1 Mutations

(September 19, 2018) Researchers at the University of Washington recently made a breakthrough in identifying and confirming variants of the BRCA1 mutation, a gene mutation that increases a woman’s risk of breast and ovarian cancers. Although the most common BRCA1 and BRCA2 mutations are already known to increase risk, there are thousands of variants of those genes that were previously considered “of unknown significance;” this new work characterizes these genetic mutation as either disease-causing or benign.

Focusing on BRCA1 and using CRISPR DNA editing technology, researchers were able to manually manipulate the genetic code to create specific mutations. They then tracked those mutations in the lab to see which changes led to cell death. The results from the study were consistent with the previously known mutations that caused cancer, which gives many people hope and confidence in its efficacy. These findings could potentially categorize most BRCA1 mutations into either benign or disease causing, giving patients the ability to make informed decisions about their health.

Given the important of this data, many doctors and researchers are ready and willing to use this information now. However, some are hesitant to use these results immediately because it has not been validated or duplicated by other teams. More about this study from NBC News here.