Expression and function of a large non-coding RNA gene XIST in human cancer

World J Surg. 2011 Aug;35(8):1751-6. doi: 10.1007/s00268-010-0951-0.


Background: X inactive-specific transcript (XIST) RNA is involved in X chromosome silencing in female cells and allows X chromosome equilibration with males. X inactive-specific transcript expression has been found to be dysregulated in a variety of human cancers when compared to normal cells; meanwhile, the inactivated X chromosome has been noted to be conspicuously absent in human cancer specimens, whereas X chromosome duplications are widely noted. The specific pathways whereby changes in X chromosome status and XIST expression occur in cancer remain incompletely described. Nevertheless, a role for XIST in BRCA1-mediated epigenetic activity has been proposed.

Methods: Here we review the data regarding XIST expression and X chromosome status in a variety of female, male, and non-sex-related human cancers.

Conclusions: It is not yet known whether X chromosome duplication, XIST dysregulation, and over-expression of X-linked genes represent important factors in tumorgenesis or are simply a consequence of overall epigenetic instability in these cancers.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • BRCA1 Protein / genetics
  • Breast Neoplasms / genetics
  • Cell Line, Tumor
  • Cell Transformation, Neoplastic / genetics
  • Chromosomes, Human, X / genetics
  • Epigenesis, Genetic
  • Female
  • Gene Expression Regulation, Neoplastic / genetics*
  • Gene Silencing
  • Humans
  • Klinefelter Syndrome / genetics
  • Male
  • Mice
  • Neoplasms / genetics*
  • Neoplasms, Germ Cell and Embryonal / genetics
  • Ovarian Neoplasms / genetics
  • Precision Medicine / trends*
  • Prostatic Neoplasms / genetics
  • RNA, Long Noncoding
  • RNA, Untranslated / genetics*
  • Testicular Neoplasms / genetics
  • Uterine Cervical Neoplasms / genetics


  • BRCA1 Protein
  • BRCA1 protein, human
  • RNA, Long Noncoding
  • RNA, Untranslated
  • XIST non-coding RNA