Cohesin mutations in human cancer.

Cohesinis a highly-conserved protein complex that plays important roles in sister chromatidcohesion, chromatin structure, geneexpression, and DNA repair. In humans, cohesinis 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 cohesinsubunits 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 cohesinmutation in the pathogenesis of human cancer.