Hossam Zaki, a Junior Computer Science and Biology double major at Brown University, studied structural variants in the DNA repair gene, RAD51B.
DNA Double Strand Breaks (DSBs) are fairly common. Fortunately, there are several DNA damage repair pathways to fix these breaks and maintain genomic integrity. This summer was definitely a memorable one. Not just for the fact that it’s 2020, but also because of the experiences that’ll last a lifetime. Working at the Broad gave me the opportunity to learn from those at the top of their field, while also conducting a research project that took me well out of my comfort zone. The skills I have obtained in BSRP will be essential to my development as a scientist, and I am so grateful for this program.However, alteration of these pathways can cause genomic instability, leading to apoptosis or malignant phenotypes. It was found that in the International Cancer Genome Consortium, structural variants (SVs) were more prevalent in RAD51B than other genes involved in DSB repair. Furthermore, tumors with any mutation in RAD51B had a higher SV burden than tumors without RAD51B mutations. RAD51B has not been well characterized so we set out to assess its role in genomic instability using the PCAWG dataset. In this project, we characterized the variants of RAD51B as well as SV burden and other features of genomic instability within each tumor. Further studies will assess the role of the RAD51B variants we found to be associated with genomic instability in DSB repair. Further understanding of these variants could lead to biomarkers of tumors likely to respond to agents targeting DNA damage repair.
Project: Characterizing Structural Variants in RAD51B
Mentors: Simona Dalin, Rameen Beroukhim, Beroukhim Lab