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7519755 
Journal Article 
Review 
Role of non-coding sequence variants in cancer 
Khurana, E; Fu, Y; Chakravarty, D; Demichelis, F; Rubin, MA; Gerstein, M 
2016 
1 
Nature Reviews. Genetics
ISSN: 1471-0056
EISSN: 1471-0064 
17 
2 
93-108 
English 
26781813 
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.