POLE proofreading domain mutations identify a subset of immunogenic colorectal cancers with excellent prognosis
A multicentre biomarker study, including data from the research teams of professors Ragnhild A. Lothe and Arild Nesbakken at the K.G. Jebsen Colorectal Cancer Research Centre, OUH, was recently published in Lancet Gastroenterology & Hepatology.
A small subgroup of patients with exceptionally mutated (ultramutated) cancers caused by mutations that impair DNA polymerase epsilon (POLE) proofreading are shown to have excellent prognosis. More than 6500 patients were included in the study and only 1% show the POLE mutation. Such rare biomarkers are important to define in precision cancer medicine, but also raise important questions about how to identify and implement them in practice.
Somatic POLE proofreading domain mutation, immune response, and prognosis in colorectal cancer: a retrospective, pooled biomarker study
The Lancet Gastroenterology & Hepatology
Available online 20 July 2016