Role of non-coding sequence variants in cancer Review uri icon


MeSH Major

  • Genetic Variation
  • Neoplasms
  • RNA, Untranslated


  • Patients with cancer carry somatic sequence variants in their tumour in addition to the germline variants in their inherited genome. Although variants in protein-coding regions have received the most attention, numerous studies have noted the importance of non-coding variants in cancer. Moreover, the overwhelming majority of variants, both somatic and germline, occur in non-coding portions of the genome. We review the current understanding of non-coding variants in cancer, including the great diversity of the mutation types - from single nucleotide variants to large genomic rearrangements - and the wide range of mechanisms by which they affect gene expression to promote tumorigenesis, such as disrupting transcription factor-binding sites or functions of non-coding RNAs. We highlight specific case studies of somatic and germline variants, and discuss how non-coding variants can be interpreted on a large-scale through computational and experimental methods.

publication date

  • February 2016



  • Review



  • eng

Digital Object Identifier (DOI)

  • 10.1038/nrg.2015.17

PubMed ID

  • 26781813

Additional Document Info

start page

  • 93

end page

  • 108


  • 17


  • 2