CHEK2*1100delC is not an important high-risk gene in families with hereditary prostate cancer in southern Sweden.

CHEK2*1100delC is a frame-shifting germ-line mutation which abolishes the function of cell-cycle-checkpoint kinase 2 (chk2) and hence impairs the cells' response to DNA damage. This variant occurs in 1% of the general Western population but has been reported to be more common among patients with breast and prostate cancer. The aim of this study was to investigate the significance of CHEK2*1100delC as a possible high-risk gene for hereditary prostate cancer in the population of southern Sweden. We screened for the CHEK2*1100delC variant in 419 men diagnosed with prostate cancer in southern Sweden, 145 of whom were sporadic cases that were divided into two subgroups depending on whether they were diagnosed before (n=64) or after (n=81) the age of 55 years. A further 126 men were classified as familial prostate cancer cases and 148 as hereditary prostate cancer cases. The control group consisted of 305 military conscripts aged 18 years (range 18-21 years). The CHEK2*1100delC variant was found in 1.2% of the cases (sporadic: 0.7%; familial: 1.6%; hereditary: 1.4%) and in 1.0% of the controls. The CHEK2 1100delC mutation is not a clinically important high-risk gene for hereditary prostate cancer susceptibility in the population of southern Sweden.