HeritX researcher discovers new function for BRCA1
One of the earliest cancer prevention projects HeritX funded is in the lab of Dr. Ralph Scully at Beth Israel Deaconess Medical Center. We are excited to share that some of the work funded by HeritX recently resulted in a new discovery that was published on November 22, 2017 in Nature magazine. (You can view the abstract for the article at https://www.nature.com/articles/nature24477.) Nature is widely considered one of the top academic journals in the world and is also one of the world’s most cited scientific journals. Publication in Nature is extremely prestigious in the scientific community.
“We have been studying the role of BRCA1 in suppressing mutations at sites of replication fork stalling. We discovered that BRCA1 prevents a certain mutation pattern called “tandem duplication” from arising at stalled forks. Remarkably, our data fits very well a recently described mutation pattern in BRCA1-linked cancer.” ~ Dr. Ralph Scully, Professor of Medicine Harvard Medical School.
The significance of this study, entitled Mechanism of tandem duplication formation in BRCA1-mutant cells, is a new understanding of how BRCA proteins protect the genome from developing cancer. We have long known that BRCA1 and BRCA2 are involved in preventing cancer by repairing damaged DNA and thereby protecting the genome. Until Dr. Scully’s discovery, we did not know that BRCA1 also prevents DNA errors in the first place by preventing these “tandem duplications” during DNA replication.
HeritX is funding ongoing cancer prevention projects in Dr. Scully’s laboratory, including work to analyze variants of uncertain significance. The benefit of this work is twofold: First, for families for whom genetic testing results in the identification of variants of uncertain significance, this work will help to classify those variants as ether likely cancer causing or benign. This will make an immediate and significant difference in the lives of many families who are currently living with uncertainty about whether they are at significantly increased risk for cancer. Second, this work will benefit HeritX’s BRCA cancer prevention research because it can be adapted to determine if a potential prevention compound or therapy improves BRCA function in cells before taking new compounds into clinical trials and testing them in people.