Major study uses Horizon's HAP1 cell lines to screen thousands of BRCA1 mutations

A major study has been undertaken to gain a better understanding of thousands of mutations in the BRCA1 gene - a key gene in breast and ovarian cancers.

Published in Nature this month, the study by the Department of Genome Sciences at the University of Washington School of Medicine, set out to analyze nearly 4,000 variants in 13 exons of BRCA1 that are "of unknown significance". These are variants that are not currently known to cause cancer, but theoretically could.

With genetic screening now a vital part of cancer diagnosis, treatment decisions and prognosis, it is essential that we gain a better understanding of genetic mutations and their functionality, to enhance patient treatment.

Using Horizon's HAP1 cells, the researchers used their novel saturation genome editing method to analyze almost 4,000 SNVs in only six months with plans to extend this work to cover the entire BRCA1 gene over the next couple of years. Having validated the HDR pathway in HAP1 cells, the authors selected Horizon's cell line for this study as the high efficiency of engineering was critical for this method to succeed.

The new variant information is being released though the Brotman Baty database to help both clinicians and patients better understand what an unknown significance test result could mean.

You can access the full paper through Nature here.