Frequent truncating mutations of STAG2 in bladder cancer

Nat Genet. 2013 Dec;45(12):1428-30. doi: 10.1038/ng.2800. Epub 2013 Oct 13.


Here we report the discovery of truncating mutations of the gene encoding the cohesin subunit STAG2, which regulates sister chromatid cohesion and segregation, in 36% of papillary non-invasive urothelial carcinomas and 16% of invasive urothelial carcinomas of the bladder. Our studies suggest that STAG2 has a role in controlling chromosome number but not the proliferation of bladder cancer cells. These findings identify STAG2 as one of the most commonly mutated genes in bladder cancer.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural

MeSH terms

  • Animals
  • Antigens, Nuclear / genetics*
  • Cell Cycle Proteins
  • Cell Line, Tumor
  • Codon, Nonsense*
  • Female
  • Gene Frequency
  • Humans
  • Mice
  • Mice, Inbred BALB C
  • Mice, Nude
  • Neoplasm Invasiveness
  • Urinary Bladder Neoplasms / genetics*
  • Urinary Bladder Neoplasms / pathology
  • Urothelium / pathology


  • Antigens, Nuclear
  • Cell Cycle Proteins
  • Codon, Nonsense
  • STAG2 protein, human

Associated data

  • GEO/GSE41581