Testicular Cancer molecular biology and genetics

This page contains information on the molecular biology and genetics of testicular cancer such as inherited genetic factors.

Inherited genetic factors play a role in the development of testicular cancer in some patients.

Men with an affected first degree relative have a higher risk of developing testicular cancer than the general population. About 2% of testicular cancer patients report having an affected relative. A number of studies have been carried out to assess the risk of testicular cancers in first-degree relatives. 1 The increased risk seen in siblings of patients is particularly high, with a relative risk of 8-10. For father-son pairs, the relative risk is 4-6. 1

Rather than being the result of mutation of a major susceptibility gene, it is thought that a number of genes, each with a relatively weak effect, are responsible for the development of testicular cancer. 2, 3 Work is ongoing to try to identify susceptibility genes, using technologies such as single nucleotide polymorphism (SNP) genotyping. 2

Sporadic cases of testicular cancer often display amplification of the short arm of chromosome 12. This suggests that genes in this region are important in the development of GCT. 4

 
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References for testicular cancer molecular biology and genetics

  1.  Lutke Holzik, M.F., et al., Genetic predisposition to testicular germ-cell tumours. Lancet Oncol, 2004. 5(6): p. 363-71.
  2.  Crockford, G.P., et al., Genome-wide linkage screen for testicular germ cell tumour susceptibility loci. Hum Mol Genet, 2006. 15(3): p. 443-51.
  3.  Lutke Holzik, M.F., et al., Re-analysis of the Xq27-Xq28 region suggests a weak association of an X-linked gene with sporadic testicular germ cell tumour without cryptorchidism. Eur J Cancer, 2006. 42(12): p. 1869-74.
  4.  Reuter, V.E., Origins and molecular biology of testicular germ cell tumors. Mod Pathol, 2005. 18 Suppl 2: p. S51-60.