Researchers showed that a specific subset of mutations in the POLE gene is strongly associated with durable responses to immunotherapy in patients with metastatic colorectal cancer (CRC). This type of mutation, called loss-of-proofreading (LOP) mutations, affects specific functions of the POLE protein.
The study, led by John Paul Shen, M.D., assistant professor in Gastrointestinal Medical Oncology, and Giulia Maddalena, M.D., Ph.D., former graduate student and attending physician, aimed to help identify and predict which patients benefit from immune checkpoint therapy, avoiding potentially ineffective treatments for those with non-LOP POLE mutations.