期刊
NATURE REVIEWS GENETICS
卷 17, 期 2, 页码 93-108出版社
NATURE PORTFOLIO
DOI: 10.1038/nrg.2015.17
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资金
- AIRC (Associazione Italiana per la Ricerca sul Cancro) [IG 13562]
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.
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