Mutation load estimation model as a predictor of the response to cancer immunotherapy

Abstract

Cancer genetics: Predicting patient response to immunotherapy Estimating patients’ mutation load from a small set of genes can accurately predict their response to cancer immunotherapy. Harnessing patients’ immune response to target tumor cells is an effective treatment approach in some cases but not others. A patient’s number of deleterious genetic mutations across all their protein-coding genes has been shown to correlate with their responsiveness to immunotherapy. However, whole-exome sequencing is time-consuming and costly. Yu-Chao Wang at the National Yang-Ming University, Taiwan, and colleagues have developed cancer-specific mutation load estimation models for adenocarcinoma, melanoma and colorectal cancer that require sequencing only a small number of genes. They show that the mutation load in lung adenocarcinoma patients can be estimated from 24 genes and that they can predict immunotherapy responsiveness with similar accuracy to that obtained using whole-exome sequencing.