Identification of FAM46D as a novel cancer/testis antigen using EST data and serological analysis

Genomics. 2009 Sep;94(3):153-60. doi: 10.1016/j.ygeno.2009.06.001. Epub 2009 Jun 18.


Cancer/testis Antigens (CTAs) are immunogenic proteins with a restricted expression pattern in normal tissues and aberrant expression in different types of tumors being considered promising candidates for immunotherapy. We used the alignment between EST sequences and the human genome sequence to identify novel CT genes. By examining the EST tissue composition of known CT clusters we defined parameters for the selection of 1184 EST clusters corresponding to putative CT genes. The expression pattern of 70 CT gene candidates was evaluated by RT-PCR in 21 normal tissues, 17 tumor cell lines and 160 primary tumors. We were able to identify 4 CT genes expressed in different types of tumors. The presence of antibodies against the protein encoded by 1 of these 4 CT genes (FAM46D) was exclusively detected in plasma samples from cancer patients. Due to its restricted expression pattern and immunogenicity FAM46D represents a novel target for cancer immunotherapy.

Publication types

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

MeSH terms

  • Antigens, Neoplasm / genetics
  • Antigens, Neoplasm / immunology*
  • Case-Control Studies
  • Databases, Nucleic Acid
  • Expressed Sequence Tags*
  • Genome, Human
  • Humans
  • Male
  • Neoplasm Proteins / genetics
  • Neoplasm Proteins / immunology*
  • Neoplasm Proteins / metabolism
  • Neoplasms / blood*
  • Neoplasms / pathology
  • Nucleotidyltransferases
  • Recombinant Proteins / genetics
  • Recombinant Proteins / immunology
  • Testis / immunology
  • Tumor Cells, Cultured


  • Antigens, Neoplasm
  • Neoplasm Proteins
  • Recombinant Proteins
  • Nucleotidyltransferases
  • TENT5D protein, human