MYC Point Mutations in Cancer: A Reboot and a Sequel.

Abstract

The impact of MYC point mutations on cancer development and progression is poorly explored, particularly compared with other MYC genetic alterations such as translocations and amplifications. MYC point mutations were first observed more than 40 years ago in lymphoid malignancies, and some of these were functionally characterized. In the following decades, only a few studies on MYC point mutations were reported until recently, when analyses of the myriad cancer-related high-throughput sequencing studies brought new life to this research topic and expanded the range of malignancies involved. However, to date, all this information can only be retrieved consulting the specific literature or navigating publicly available databases, and a proper collection and systematic description of these genetic changes is urgently needed. In this review, we run through the steps of the MYC point mutations line of research with a comprehensive illustration of the recurrent variants occurring at the MYC coding, non-coding and regulatory regions in cancer. With this work, we also aim to highlight the current gaps of knowledge to stimulate the research in this field which could ultimately result in the release of its translational potential.