Title | Role of non-coding sequence variants in cancer. |
Publication Type | Journal Article |
Year of Publication | 2016 |
Authors | Khurana E, Fu Y, Chakravarty D, Demichelis F, Rubin MA, Gerstein M |
Journal | Nat Rev Genet |
Volume | 17 |
Issue | 2 |
Pagination | 93-108 |
Date Published | 2016 Feb |
ISSN | 1471-0064 |
Abstract | 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. |
DOI | 10.1038/nrg.2015.17 |
Alternate Journal | Nat. Rev. Genet. |
PubMed ID | 26781813 |