Genetic changes associated with testicular cancer susceptibility

Semin Oncol. 2016 Oct;43(5):575-581. doi: 10.1053/j.seminoncol.2016.08.004. Epub 2016 Sep 20.

Abstract

Testicular germ cell tumor (TGCT) is a highly heritable cancer primarily affecting young white men. Genome-wide association studies (GWAS) have been particularly effective in identifying multiple common variants with strong contribution to TGCT risk. These loci identified through association studies have implicated multiple genes as associated with TGCT predisposition, many of which are unique among cancer types, and regulate processes such as pluripotency, sex specification, and microtubule assembly. Together these biologically plausible genes converge on pathways involved in male germ cell development and maturation, and suggest that perturbation of them confers susceptibility to TGCT, as a developmental defect of germ cell differentiation.

Keywords: Germ cell tumor; Sex development; Testicular cancer.

Publication types

  • Review

MeSH terms

  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study
  • Humans
  • Male
  • Meiosis
  • Neoplasms, Germ Cell and Embryonal / etiology
  • Neoplasms, Germ Cell and Embryonal / genetics*
  • Neoplasms, Germ Cell and Embryonal / pathology
  • Risk Factors
  • Sex Determination Processes
  • Testicular Neoplasms / etiology
  • Testicular Neoplasms / genetics*
  • Testicular Neoplasms / pathology

Supplementary concepts

  • Testicular Germ Cell Tumor