Judit Jimenez Sainz, Ph.D.
BRCA and DNA repair related cancers (Variants of uncertain Significance)
Research Interest
My long-term goal is to decipher how defects in homologous directed repair led to breast and ovarian cancer as an independent investigator. By studying the interplay between mutations in DNA repair genes and cancer risk, my objectives are to translate basic research findings in my lab to advance translational opportunities for female cancer patients. As a Hispanic woman, I also wish to train the next generation of STEM students and transmit awareness on women’s cancers. I will use a multifaceted experimental approach and groundbreaking technologies to investigate the functionality of DNA repair proteins, their regulation to maintain genome integrity and how mutations can lead to breast and ovarian cancer predisposition and can be utilized to stratify patients for targeted therapy. My current laboratory focusses on the importance of functional assessment of BRCA2 variants to define cancer risk and therapeutic interventions for patients.