Cancer/testis-associated genes: identification, expression profile, and putative function

J Cell Physiol. 2003 Mar;194(3):272-88. doi: 10.1002/jcp.10215.


Cancer/testis-associated genes (CTAs) are a subgroup of tumor antigens with a restricted expression in testis and malignancies. During the last decade, many of these immunotherapy candidate genes have been discovered using various approaches. Most of these genes are localized on the X-chromosome, often as multigene families. Methylation status seems to be the main, but not the only regulator of their specific expression pattern. In testis, CTAs are exclusively present in cells of the germ cell lineage, though there is a lot of variation in the moment of expression during different stages of sperm development. Likewise, there is also a lot of heterogeneity in the expression of CTAs in melanoma samples. Clues regarding functionality of CTAs for many of these proteins point to a role in cell cycle regulation or transcriptional control. Better insights in the function of these genes may shed light on the link between spermatogenesis and tumor growth and could be of use in anti-tumor therapies. This review outlines the CTA family and focuses on their expression and putative function during male germ cell development and melanocytic tumor progression.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Antigens, Neoplasm / analysis
  • Antigens, Neoplasm / genetics*
  • Antigens, Neoplasm / metabolism*
  • Gene Expression Regulation, Neoplastic
  • Humans
  • Male
  • Melanoma / diagnosis
  • Melanoma / physiopathology
  • Skin Neoplasms / diagnosis
  • Skin Neoplasms / physiopathology
  • Spermatogenesis
  • Testis


  • Antigens, Neoplasm