TY - JOUR
T1 - Role of non-coding sequence variants in cancer
AU - Khurana, Ekta
AU - Fu, Yao
AU - Chakravarty, Dimple
AU - Demichelis, Francesca
AU - Rubin, Mark A.
AU - Gerstein, Mark
N1 - Publisher Copyright:
© 2016 Macmillan Publishers Limited.
PY - 2016/2/1
Y1 - 2016/2/1
N2 - 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.
AB - 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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U2 - 10.1038/nrg.2015.17
DO - 10.1038/nrg.2015.17
M3 - Review article
C2 - 26781813
AN - SCOPUS:84955394114
SN - 1471-0056
VL - 17
SP - 93
EP - 108
JO - Nature Reviews Genetics
JF - Nature Reviews Genetics
IS - 2
ER -