title: Cohesin mutations in human cancer.
abstract: Cohesin is a highly-conserved protein complex that plays important roles in sister chromatid cohesion, chromatin structure, gene expression, and DNA repair. In humans, cohesin is a ubiquitously expressed, multi-subunit protein complex composed of core subunits SMC1A, SMC3, RAD21, STAG1/2 and regulatory subunits WAPL, PDS5A/B, CDCA5, NIPBL, and MAU2. Recent studies have demonstrated that genes encoding cohesin subunits are somatically mutated in a wide range of human cancers. STAG2 is the most commonly mutated subunit, and in a recent analysis was identified as one of only 12 genes that are significantly mutated in four or more cancer types. In this review we summarize the findings reported to date and comment on potential functional implications of cohesin mutation in the pathogenesis of human cancer.
authors.affiliation: Lombardi Comprehensive Cancer Center, Georgetown University School of Medicine, 3970 Reservoir Road, NW, NRB E304, Washington, DC 20057, USA.
authors.forename: Victoria K
authors.initials: VK
authors.lastname: Hill
authors.affiliation: Lombardi Comprehensive Cancer Center, Georgetown University School of Medicine, 3970 Reservoir Road, NW, NRB E304, Washington, DC 20057, USA.
authors.forename: Jung-Sik
authors.initials: JS
authors.lastname: Kim
authors.affiliation: Lombardi Comprehensive Cancer Center, Georgetown University School of Medicine, 3970 Reservoir Road, NW, NRB E304, Washington, DC 20057, USA.
authors.forename: Todd
authors.initials: T
authors.lastname: Waldman
mesh_terms: D034961:Antigens, Nuclear / Q000235:genetics*; D018797:Cell Cycle Proteins / Q000235:genetics*; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D004260:DNA Repair / Q000235:genetics; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D046912:Multiprotein Complexes / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D009369:Neoplasms / Q000235:genetics* / Q000473:pathology; D012854:Sister Chromatid Exchange / Q000235:genetics; D000097722:Cohesins
chemical_list: D034961:Antigens, Nuclear; D018797:Cell Cycle Proteins; D002868:Chromosomal Proteins, Non-Histone; D046912:Multiprotein Complexes; D000097722:Cohesins; C508565:STAG2 protein, human
keywords: Cancer; Cohesin; Ewing sarcoma; Myeloid malignancy; STAG2; Urothelial carcinoma