Localisation of susceptibility genes for familial testicular germ cell tumour

APMIS. 2003 Jan;111(1):128-33; discussion 33-5. doi: 10.1034/j.1600-0463.2003.11101171.x.


Approximately 1700 men in the United Kingdom develop testicular germ cell tumours (TGCT) per year. Among the known risk factors a family history of disease remains one of the strongest (1, 2). Two-percent of TGCT cases report another affected family member. Epidemiological studies have shown that there is an eight to ten fold increase in relative risk of TGCT to brothers of patients and a fourfold increased risk to fathers and sons (2-5). This relative risk is considerably higher than for most other common cancers, which rarely exceeds four and strongly suggests that genes may play an important role in TGCT. Linkage analysis of the set of families compatible with X-linkage (i.e. no male to male transmission) provided the first statistically significant evidence for a TGCT predisposition locus (6). The gene called TGCT1 is located at Xq27 and seems to be associated with a risk of bilateral disease and undescended testis. However TGCT1 does not account for all TGCT pedigrees and additional susceptibility genes must exist. Our group has now genotyped 179 TGCT pedigrees and identified additional genomic regions that might also harbour TGCT susceptibility genes. This paper reviews the current data for the region at Xq27 and presents evidence for several other possible candidate regions.

Publication types

  • Comparative Study

MeSH terms

  • Chromosomes, Human, X*
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Germinoma / genetics*
  • Humans
  • Male
  • Pedigree
  • Testicular Neoplasms / genetics*