|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|
|Date Published||2016 Feb|
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.
|Alternate Journal||Nat. Rev. Genet.|