Assessing DNA polymerase theta as a therapeutic target in BRCA1 mutant cancer

NIH RePORTER · NIH · R01 · $430,050 · view on reporter.nih.gov ↗

Abstract

PROJECT SUMMARY Genetic disruption of DNA polymerase theta (Polθ) activity has been shown to effectively target BRCA1 mutated cells, while leaving BRCA1 wild-type (WT) cells intact. Polθ facilitates theta-mediated DNA end joining (TMEJ) repair by promoting DNA synapsis and repair synthesis at break sites containing 3' single stranded (ss)DNA overhangs. Although small molecule inhibitors of Polθ activity are currently under development for the treatment of BRCA1 mutant cancers, very little is known regarding the mechanisms that activate TMEJ and result in Polθ- dependency in BRCA1 mutant cells. Moreover, the current paradigm assumes that homologous recombination (HR)-deficiency confers Polθi sensitivity, therefore PARPi responsiveness is expected to be a biomarker for Polθ inhibitor (Polθi) sensitivity. In our preliminary data, we unexpectedly identified commonly used Brca1 mutant cells that grow relatively unperturbed with genetic Polq (Polθ) knockout (KO), indicating that Polθi and PARPi sensitivity may not necessarily correlate. In this proposal, we will elucidate the molecular requirements for TMEJ activation and identify biological factors that distinguish PARPi and Polθi sensitivity. We will address the following Specific Aims: 1) reveal the molecular basis of TMEJ activation in Brca1 mutant cells; 2) uncover genetic Polθ- dependencies in Brca1 mutant cells; and 3) examine pharmacologic Polθ inhibition in Brca1 mutant cells. Collectively, these studies will be informative for future clinical studies employing Polθi.

Key facts

NIH application ID
10446399
Project number
1R01CA262466-01A1
Recipient
RESEARCH INST OF FOX CHASE CAN CTR
Principal Investigator
Neil Johnson
Activity code
R01
Funding institute
NIH
Fiscal year
2022
Award amount
$430,050
Award type
1
Project period
2022-03-01 → 2027-02-28