Dr. Scully’s research project involves the development of quantitative assays of BRCA1 and BRCA2 function in both homologous recombination and in stalled replication fork repair. These are two mechanisms by which BRCA proteins protect cells from developing cancer.
His laboratory was awarded a two-year grant to develop tests to determine whether a given variation in the BRCA1 gene is normal or abnormal, and to develop similar tests for BRCA2. This project is yielding important information that will ultimately be useful in the clinic, helping to decipher the cancer risk associated with individual BRCA variants.
His laboratory is also developing tests for the roles of BRCA1 and BRCA2 in the repair of DNA during DNA replication. CPI/HeritX funding recently contributed to a major new discovery, published in the journal Nature (Willis et al., 551, 2017, 590-595). In this paper, they uncovered the mechanism by which BRCA1 suppresses localized DNA rearrangements called “tandem duplications”. Importantly, these rearrangements are strongly associated with BRCA1-linked cancer but not with BRCA2-linked cancer. They believe a deeper understanding of the biology of tandem duplications will help us to understand the origins of cancer and will also guide us to the discovery of new therapies to prevent or if necessary, treat BRCA1-linked cancer.