title: Role of non-coding sequence variants in cancer.
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.
authors.affiliation: Meyer Cancer Center, Weill Cornell Medical College, New York, New York 10065, USA.|Institute for Precision Medicine, Weill Cornell Medical College, New York, New York 10065, USA.|Institute for Computational Biomedicine, Weill Cornell Medical College, New York, New York 10021, USA.|Department of Physiology and Biophysics, Weill Cornell Medical College, New York, New York 10065, USA.
authors.forename: Ekta
authors.initials: E
authors.lastname: Khurana
authors.affiliation: Bina Technologies, Roche Sequencing, Redwood City, California 94065, USA.
authors.forename: Yao
authors.initials: Y
authors.lastname: Fu
authors.affiliation: Institute for Precision Medicine, Weill Cornell Medical College, New York, New York 10065, USA.|Department of Pathology and Laboratory Medicine, Weill Cornell Medical College, New York, New York 10065, USA.
authors.forename: Dimple
authors.initials: D
authors.lastname: Chakravarty
authors.affiliation: Institute for Precision Medicine, Weill Cornell Medical College, New York, New York 10065, USA.|Institute for Computational Biomedicine, Weill Cornell Medical College, New York, New York 10021, USA.|Centre for Integrative Biology, University of Trento, 38123 Trento, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Demichelis
authors.affiliation: Meyer Cancer Center, Weill Cornell Medical College, New York, New York 10065, USA.|Institute for Precision Medicine, Weill Cornell Medical College, New York, New York 10065, USA.|Department of Pathology and Laboratory Medicine, Weill Cornell Medical College, New York, New York 10065, USA.
authors.forename: Mark A
authors.initials: MA
authors.lastname: Rubin
authors.affiliation: Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut 06520, USA.|Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, Connecticut 06520, USA.|Department of Computer Science, Yale University, New Haven, Connecticut 06520, USA.
authors.forename: Mark
authors.initials: M
authors.lastname: Gerstein
mesh_terms: D015972:Gene Expression Regulation, Neoplastic; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D042822:Genomic Instability; D018095:Germ-Line Mutation; D006801:Humans; D009369:Neoplasms / Q000235:genetics*; D022661:RNA, Untranslated
chemical_list: D022661:RNA, Untranslated