Mapping and Making Sense of Noncoding Mutations in the Genome

Cancer Res. 2019 Sep 1;79(17):4309-4314. doi: 10.1158/0008-5472.CAN-19-0905. Epub 2019 Aug 6.


Whole-genome sequencing efforts of tumors and normal tissues have identified numerous genetic mutations, both somatic and germline, that do not overlap with coding genomic sequences. Attributing a functional role to these noncoding mutations and characterizing them using experimental methods has been more challenging compared with coding mutations. In this review, we provide a brief introduction to the world of noncoding mutations. We discuss recent progress in identifying noncoding mutations and the analytic and experimental approaches utilized to interpret their functional roles. We also highlight the potential mechanisms by which a noncoding mutation may exert its effect and discuss future challenges and opportunities.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Review

MeSH terms

  • Genome, Human*
  • Genome-Wide Association Study
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Mutation*
  • Neoplasms / genetics
  • Quantitative Trait Loci
  • Telomerase / genetics


  • TERT protein, human
  • Telomerase