Alma Rechav Ben Natan

BRCA1 and BRCA2 High-Throughput Mutation Classification

Breast cancer is the most frequently diagnosed cancer in women – as high as 25%, while ovarian cancer accounts for 2.5% of cancers in women. Women who carry BRCA1 or BRCA2 non-functional mutations are predisposed to early onset of hereditary breast and ovarian cancer. There are many variants of uncertain significance (VUS) in the population, which are limiting the clinical utility of genetic information – they might not be sensitive to the current clinically used therapeutic drugs. PARP inhibition (PARPi) is currently the only therapeutic drug that is used for patients with BRCA1 or BRCA2 mutations. The lack of other therapeutic approaches currently prevents a comprehensive drug sensitivity annotation. It is important to understand which type of mutations are PARPi sensitive in order to optimize the choice of therapeutic strategy of patients carrying different BRCA1 or BRCA2 mutations. I aim to address the clinical challenge of BRCA1 and BRCA2 mutation classification, focusing mainly on identifying mutations that are sensitive to PARPi in order to generate an initial drug sensitivity map.

Message to Sponsor

This past summer was instrumental for expanding my research skills through various mediums: I gained advanced experience in molecular cloning, designing experiments and troubleshooting, reading scientific articles and working in coordination with my post-doc in the lab. This summer brought upon many unexpected changes, but I was able to find a silver lining in the situation and volunteer with the other members in my lab to produce testing kits for COVID-19 which we developed. It gave a sense of purpose in this time of great uncertainty and helped me to solidify my passion for helping the community and individuals in need, which applies to my intended career as a physician. This part of my project that I was able to work on this summer in only the beginning of my honors thesis, and I look forward to keep working on it this academic year. Thank you so much for making this opportunity possible and transforming my summer experience completely.
  • Major: MCB - Neurobiology
  • Sponsor: Pergo Fund
  • Mentor: Dirk Hockemeyer