Garolla A et al. (2005) Molecular analysis of the androgen receptor gene in testicular cancer. Endocr Relat Cancer 12: 645–655

Garolla et al. report a high prevalence of mutations of the androgen-receptor (AR) gene in young patients with testicular cancer in Italy. An association between AR gene mutations and testicular cancer has previously been proposed, because of the known increased risk of testicular cancer in patients with androgen insensitivity syndrome. Furthermore, epidemiologic studies have suggested that the number of CAG and GGC repeats in the AR gene might also be implicated in the development of testicular cancer.

The authors used polymerase chain reaction to analyze AR gene mutations and CAG and GGC repeat number in 123 testicular cancer patients with stage I tumors, and compared the results with those from age-matched controls.

AR gene mutations were found in three patients (2.4%), two of which were novel mutations. These patients all had SEMINOMA and none had a history of CRYPTORCHIDISM, a known risk factor. The authors found no AR mutations in 300 fertile control subjects, suggesting a specific association with testicular cancer.

No significant differences were seen in the CAG and GGC repeat lengths in testicular cancer patients compared with control subjects; however, when the investigators looked at the joint distribution of CAG and GGC repeats they observed a significant difference between those in testicular cancer patients and controls, suggesting that certain CAG and GGC haplotypes might be associated with an increased risk of testicular cancer.